La sindrome di Ehlers-Danlos (EDS) costituisce un eterogeneo gruppo di patologie congenite del tessuto connettivo, caratterizzate da ipermobilità articolare, iperestensibilità della cute e fragilità dei tessuti.Attualmente la nuova classificazione nosologica (Villefranche 1997) definisce 6 principali forme di EDS.Le differenti forme della EDS sono classificate sulla base dei segni e sintomi manifestati. Tali forme non sono gradazioni di severità ma rappresentano malattie distinte che ricorrono in maniera precisa in una certa famiglia. Questo implica che un individuo con la forma vascolare della EDS non possa avere un figlio con la forma classica della EDS. Sono colpiti sia i maschi che le femmine di tutti gruppi razziali ed etnici (Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998; 77(1):31-7).

Le manifestazioni cliniche della EDS sono principalmente a carico delle articolazioni e della cute e possono comprendere: ipermobilità articolare; instabilità articolare con tendenza a frequenti dislocazioni e/o sub-lussazioni; dolore articolare; iperestensibilità articolare (ampiezza di movimento attivo superiore al raggio normale); artrosi precoce; cute soffice, vellutata; variabile iperestensibilità cutanea; fragilità cutanea con facilità alla lacerazione e al sanguinamento anche grave; lenta e scarsa cicatrizzazione; sviluppo di pseudo-tumori molluscoidi (lesioni carnose associate a cicatrici in corrispondenza delle zone di pressione come ad esempio i gomiti).Meno comunemente sono presenti dolore muscolo-scheletrico cronico ad esordio precoce (di solito in associazione con la forma Ipermobile); fragilità o rottura di arterie o intestino o utero (di solito nella forma Vascolare); scoliosi dalla nascita e fragilità della sclera (di solito in associazione con la forma Cifoscoliotica); ipotonia muscolare (associata alla forma Artrocalasica); prolasso mitralico.L'iperestensibilità della cute dovrebbe essere testata in un sito neutrale, non soggetto a trazione meccanica o cicatrice, come per esempio la superficie volare degli avambracci. Si misura sollevando la cute fino all'insorgenza di resistenza. Nel bambino è difficile da valutare a causa dell'abbondanza del grasso sottocutaneo. L'ipermobilità articolare dovrebbe essere valutata con la scala di Beighton in rapporto all'età, al sesso e alla predisposizione familiare ed etnica. L'ipermobilità è definita da un punteggio uguale o superiore a 5/9.Il punteggio totale si ottiene dalla somma:a) dorsiflessione passiva delle dita oltre i 90°; un punto per mano.b) apposizione passiva dei pollici sulla superficie flessoria dell'avambraccio; un punto per ciascuna mano.c) iperestensione dei gomiti oltre i 10°; un punto per ciascun gomito.d) iperestensione delle ginocchia oltre i 10°; un punto per ciascun ginocchio.e) flessione delle gambe sul tronco con le ginocchia completamente estese mantenendo le palme delle mani appoggiate piatte sul pavimento; un punto.La facilità al sanguinamento si manifesta come ecchimosi spontanee, frequenti e ricorrenti nella stessa sede che causano una caratteristica colorazione brunastra.Il sanguinamento può costituire il sintomo di presentazione durante l'infanzia. Vi è la tendenza a un tempo di sanguinamento prolungato nonostante un normale stato dei parametri coagulativi. La fragilità tissutale si manifesta come tendenza al sanguinamento, difficile riparazione delle ferite e cicatrici distrofiche. Le cicatrici si trovano principalmente sui punti di pressione (ginocchia, gomiti, fronte, mento). Il prolasso della valvola mitrale è una manifestazione frequente mentre non lo è la dilatazione dell'aorta che in una piccola percentuale di pazienti affetti da EDS può tuttavia essere progressiva. Artralgie e dolore agli arti cronici, con radiografie normali, sono comuni e molto spesso è difficile stabilire la precisa sede anatomica del dolore.Benchè siano entità ben definite, le forme Cifoscoliotica, Artrocalasica e Dermatosparasica sono meno comuni rispetto alle forme Classica, Ipermobile e Vascolare (Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998; 77(1):31-7).

La prognosi della EDS dipende dalla specifica forma. L'aspettativa di vita può essere ridotta nel caso della forma Vascolare a causa della possibilità di rottura dei vasi o degli organi. Nelle altre forme invece l'aspettativa di vita non è alterata (Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998; 77(1):31-7).

I malati affetti da EDS hanno un difetto genetico a carico del tessuto connettivo ovvero il tessuto che sostiene le principali parti del corpo come la cute, i muscoli e i legamenti. La fragilità cutanea e l'instabilità articolare che sono caratteristiche della EDS sono il risultato di un collagene alterato. Si conoscono tre meccanismi principali che portano alla malattia: la deficienza di enzimi processanti il collagene, effetti negativi dominanti dovuti a catene del collagene a mutate ed aploinsufficienza (Mao JR, Bristow J. The Ehlers-Danlos syndrome:on beyond collagens. J Clin Inv 2001; 107(9):1063-1069).

La diagnosi della EDS e della specifica forma della malattia, si basa sui dati clinici suffragati, quando possibile, dagli aspetti biochimici e molecolari.Per ciascun tipo di EDS sono stati definiti criteri diagnostici maggiori e minori.Un criterio diagnostico maggiore ha un elevata specificità poiché è raro in altre patologie o nella popolazione generale. La presenza di uno o più criteri maggiori è necessaria per la diagnosi clinica e allo stesso tempo altamente suggestiva per cui richiede una conferma di laboratorio quando sia possibile.Un criterio minore è caratterizzato da una minore specificità diagnostica. La presenza di uno o più criteri minori contribuisce alla diagnosi di una specifica forma di EDS benché, in assenza di criteri maggiori, non sia sufficienti a porre diagnosi.La presenza di criteri minori può suggerire la diagnosi di una condizione EDS-simile, la natura della quale potrebbe chiarirsi una volta nota la base molecolare.Il prolasso della valvola mitrale (MVP) e la dilatazione dell'aorta prossimale dovrebbero essere diagnosticate mediante ecocardiografia, tomografia computerizzata o risonanza magnetica.La dilatazione della radice dell'aorta dovrebbe essere diagnosticata quando il diametro massimo a livello del seno di Valsava supera il limite superiore normale in rapporto ad età e taglia corporea. Per la diagnosi del prolasso della mitrale si dovrebbero usare dei criteri stringenti. Negli individui nei quali è presente una dilatazione dell'aorta bisogna considerare come diagnosi alternativa la ectasia dell'anulus aortico (Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998; 77(1):31-7).

E' possibile la conferma di laboratorio di alcune forme della sindrome di Ehlers-Danlos: quella Vascolare, la Cifoscoliotica, l'Artrocalasica e la Dermosparasica (Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998; 77(1):31-7).

In linea generale l'intervento medico è limitato alla terapia sintomatica ma comprende anche la valutazione chirurgica circa un eventuale rottura arteriosa, la rimozione ritardata delle suture e la riparazione chirurgica delle frequenti sublussazioni articolari.I medici dovrebbero inoltre prescrivere tutori per stabilizzare le articolazioni, consultare un fisioterapista per aiutare il malato a rinforzare i muscoli e ad apprendere un consono utilizzo delle articolazioni per preservarle.In previsione di una gravidanza i pazienti con EDS dovrebbero consultare un genetista. I bambini affetti da EDS dovrebbero essere informati circa la loro malattia in maniera da comprendere che sono da evitare gli sport che prevedono urti e le attività fisiche stressanti. Inoltre bisognerebbe spiegargli da subito che non devono assumere le posture inusuali dovute alla loro instabilità articolare perché questo può portare ad una precoce degenerazione delle articolazioni.Bisognerebbe usare quotidianamente creme protettive nel caso di eccessiva esposizione solare ed evitare quelle attività che causano l'iperestensione delle articolazioni. Alcuni pazienti traggono beneficio sulla tendenza al sanguinamento e sulla riparazione delle ferite dall'uso di acido ascorbico (vitamina C) (Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998; 77(1):31-7).

Parikh F, Sivaramakrishnan A, Pai-dhungat JV. Type VI Ehler Danlos Syndrome. J Assoc Physicians India. 2004;52:631.
Whiteley WN, Sandercock PA. An unusual vascular cause of Horner's syndrome. Cerebrovasc Dis. 2005;19(5):351-2.
Casana R, Nano G, Dalainas I, Tealdi DG. Endovascular treatment of hepatic artery aneurysm in a patient with Ehlers-Danlos syndrome. Case report. Int Angiol. 2004;23(3):291-5.
Defuentes G, Damiano J, Moulin O, Hervouet M, Zing E, Berets O. [Right diverticular colitis revealing an Ehlers-Danlos syndrome]. Presse Med. 2004;33(22):1591-2.
Klemenov AV, Tkacheva ON, Vertkin AL. [Connective tissue dysplasia and pregnancy (review)]. Ter Arkh. 2004;76(11):80-3.
Makolkin VI, Podzolkov VI, Rodionov AV, Sheianov MV, Samoilenko VV, Napalkov DA. [Polymorphism of clinical symptoms of connective tissue dysplasia syndrome]. Ter Arkh. 2004;76(11):77-80.
Lee HH. Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module. Mol Genet Metab. 2005;84(1):4-8.
Mitsuhashi T, Miyajima M, Saitoh R, Nakao Y, Hishii M, Arai H. Spontaneous carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV--case report. Neurol Med Chir (Tokyo). 2004;44(10):548-53.
Khocht A, Calem B, Deasy M. Use of anti-inflammatory medications in managing atypical gingivitis associated with hypermobile Ehlers-Danlos syndrome: a case report. J Periodontol. 2004;75(11):1547-52.
Whitelaw SE. Ehlers-Danlos syndrome, classical type: case management. Dermatol Nurs. 2004;16(5):433-6, 449.
Hermanns-Le T. [How I explore.some vascular disorders by ultrastructural examination of the skin]. Rev Med Liege. 2004;59(10):598-600.
Brown SC, Stinson J. Treatment of pediatric chronic pain with tramadol hydrochloride: siblings with Ehlers-Danlos syndrome - Hypermobility type. Pain Res Manag. 2004 Winter;9(4):209-11.
Walker LC, Teebi AS, Marini JC, De Paepe A, Malfait F, Atsawasuwan P, Yamauchi M, Yeowell HN. Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene. Mol Genet Metab. 2004;83(4):312-21.
De Paepe A, Malfait F. Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. Br J Haematol. 2004;127(5):491-500.
De Coster PJ, Martens LC, Van den Berghe L. Prevalence of temporomandibular joint dysfunction in Ehlers-Danlos syndromes. Orthod Craniofac Res. 2004;7(4):237-40; author reply 240-1.
Zweers MC, Schalkwijk J, van Kuppevelt TH, van Vlijmen-Willems IM, Bergers M, Lethias C, Lamme EN. Transplantation of reconstructed human skin on nude mice: a model system to study expression of human tenascin-X and elastic fiber components. Cell Tissue Res. 2005;319(2):279-87.
Nematbakhsh A, Crawford AH. Non-adjacent spondylolisthesis in ehlers-danlos syndrome. J Pediatr Orthop B. 2004;13(5):336-9.
Solan K, Davies P. Anaesthetic and intensive care management of a patient with Ehlers-Danlos type IV syndrome after laparotomy. Anaesthesia. 2004;59(12):1224-7.
Shukla AR, Bellah RA, Canning DA, Carr MC, Snyder HM, Zderic SA. Giant bladder diverticula causing bladder outlet obstruction in children. J Urol. 2004;172(5 Pt 1):1977-9.
Ulbricht D, Diederich NJ, Hermanns-Le T, Metz RJ, Macian F, Pierard GE. Cervical artery dissection: An atypical presentation with Ehlers-Danlos-like collagen pathology? Neurology. 2004;63(9):1708-10.
Walker LC, Overstreet MA, Willing MC, Marini JC, Cabral WA, Pals G, Bristow J, Atsawasuwan P, Yamauchi M, Yeowell HN. Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation. Am J Med Genet A. 2004;131(2):155-62.
Safdar Z, O'Sullivan M, Shapiro JM. Emergent bullectomy for acute respiratory failure in Ehlers-Danlos syndrome. J Intensive Care Med. 2004;19(6):349-51.
Skoumal M, Haberhauer G, Mayr H. [Concomitant diseases in primary joint hypermobility syndrome]. Med Klin (Munich). 2004;99(10):585-90.
De Felice C, Bianciardi G, Dileo L, Latini G, Parrini S. Abnormal oral vascular network geometric complexity in Ehlers-Danlos syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004;98(4):429-34.
Banjar HH. Cystic fibrosis: presentation with other diseases, the experience in Saudi Arabia. J Cyst Fibros. 2003;2(3):155-9.
Zweers MC, Hakim AJ, Grahame R, Schalkwijk J. Joint hypermobility syndromes: the pathophysiologic role of tenascin-X gene defects. Arthritis Rheum. 2004;50(9):2742-9.
Iagoda AV, Gladkikh NN. [Assessment of a complex of external phenotypic signs for the detection of minor cardiac anomalies]. Klin Med (Mosk). 2004;82(7):30-3.
Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, Nusgens B, Martens L, De Paepe A. The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). Am J Med Genet A. 2004;131(1):18-28.
Colige A, Nuytinck L, Hausser I, van Essen AJ, Thiry M, Herens C, Ades LC, Malfait F, Paepe AD, Franck P, Wolff G, Oosterwijk JC, Smitt JH, Lapiere CM, Nusgens BV. Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. J Invest Dermatol. 2004;123(4):656-63.
Alkadhi H, Wildermuth S, Desbiolles L, Schertler T, Crook D, Marincek B, Boehm T. Vascular emergencies of the thorax after blunt and iatrogenic trauma: multi-detector row CT and three-dimensional imaging. Radiographics. 2004;24(5):1239-55.
Peeters AC, Kucharekova M, Timmermans J, van den Berkmortel FW, Boers GH, Novakova IR, Egging D, den Heijer M, Schalkwijk J. A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X. Neth J Med. 2004;62(5):160-2.
Hamel BC. Ehlers-Danlos syndrome. Neth J Med. 2004;62(5):140-2.
Persikov AV, Pillitteri RJ, Amin P, Schwarze U, Byers PH, Brodsky B. Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. Hum Mutat. 2004;24(4):330-7.
Hagberg C, Berglund B, Korpe L, Andersson-Norinder J. Ehlers-Danlos Syndrome (EDS) focusing on oral symptoms: a questionnaire study. Orthod Craniofac Res. 2004;7(3):178-85.
Bolton-Maggs PH, Perry DJ, Chalmers EA, Parapia LA, Wilde JT, Williams MD, Collins PW, Kitchen S, Dolan G, Mumford AD. The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation. Haemophilia. 2004;10(5):593-628.
Bethea BT, Fitton TP, Alejo DE, Barreiro CJ, Cattaneo SM, Dietz HC, Spevak PJ, Lima JA, Gott VL, Cameron DE. Results of aortic valve-sparing operations: experience with remodeling and reimplantation procedures in 65 patients. Ann Thorac Surg. 2004;78(3):767-72; discussion 767-72.
Dill-Russell P, Jones LS. Anaesthesia for caesarean section in a patient with Ehlers-Danlos syndrome and mitral valve prolapse. Int J Obstet Anesth. 2001;10(3):192-7.
Kuczkowski KM, Benumof JL. Cesarean section and Ehlers-Danlos syndrome: choice of anesthesia. Int J Obstet Anesth. 2002;11(3):222-4.
Kobayasi T. Abnormality of dermal collagen fibrils in Ehlers Danlos syndrome. Anticipation of the abnormality for the inherited hypermobile disorders. Eur J Dermatol. 2004;14(4):221-9.
Pesudovs K. Orbscan mapping in Ehlers-Danlos syndrome. J Cataract Refract Surg. 2004;30(8):1795-8.
Vyskocil V, Varvarovska J, Koudela K. [Marfan's syndrome--application of revised criteria and differential diagnosis in clinical practice]. Acta Chir Orthop Traumatol Cech. 2004;71(3):157-64.
White SD, Affolter VK, Bannasch DL, Schultheiss PC, Hamar DW, Chapman PL, Naydan D, Spier SJ, Rosychuk RA, Rees C, Veneklasen GO, Martin A, Bevier D, Jackson HA, Bettenay S, Matousek J, Campbell KL, Ihrke PJ. Hereditary equine regional dermal asthenia ("hyperelastosis cutis") in 50 horses: clinical, histological, immunohistological and ultrastructural findings. Vet Dermatol. 2004;15(4):207-17.
Iurassich S. [Hypermobile syndrome: functional and aesthetic damages. Observations on 50 cases]. Med Lav. 2004;95(3):223-32.
Pallotta R, Ehresmann T, Fusilli P, De Paepe A, Nuytinck L. Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome. Am J Med Genet A. 2004;128(4):436-8.
Symoens S, Nuytinck L, Legius E, Malfait F, Coucke PJ, De Paepe A. Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype. J Med Genet. 2004;41(7):e96.
Fernandez-Garcia R, Ramos-Zabala A, Perez-Mencia T, Sanz-Baena C, Lopez-Garcia A. [Subarachnoid anesthesia for cesarean section in a patient with Ehlers-Danlos syndrome type II]. Rev Esp Anestesiol Reanim. 2004;51(5):268-71.
Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. Am J Med Genet A. 2004;128(1):39-45.
Gniadecka M, Johansson CK, Ullman S, Halberg P, Wulf HC. Enlarged hair follicles in patients with Ehlers-Danlos syndrome. Acta Derm Venereol. 2004;84(3):249-50.
Chanut-Delalande H, Bonod-Bidaud C, Cogne S, Malbouyres M, Ramirez F, Fichard A, Ruggiero F. Development of a functional skin matrix requires deposition of collagen V heterotrimers. Mol Cell Biol. 2004;24(13):6049-57.
Baruch MB, Beck-Little R. A 12-year-old boy with multiple bruises and a dislocated knee but no reported injury. J Emerg Nurs. 2004;30(3):213-5.
Doukas DJ, Holmes J, Leonard JA. A nonsurgical approach to painful piezogenic pedal papules. Cutis. 2004;73(5):339-40, 346.
McLean ID. Chiropractic management of Ehlers-Danlos syndrome: a report of two cases. J Manipulative Physiol Ther. 2004;27(4):281; author reply 281-2.
Barrera R, Mane C, Duran E, Vives MA, Zaragoza C. Ehlers-Danlos syndrome in a dog. Can Vet J. 2004;45(4):355-6.
Germain DP, Herrera-Guzman Y. Vascular Ehlers-Danlos syndrome. Ann Genet. 2004;47(1):1-9.
Kassam A, Horowitz M, Chang YF, Peters D. Altered arterial homeostasis and cerebral aneurysms: a review of the literature and justification for a search of molecular biomarkers. Neurosurgery. 2004;54(5):1199-11; discussion 1211-2.
Cohen PR, Milewicz DM. Dolichonychia in women with Marfan syndrome. South Med J. 2004;97(4):354-8.
Mondon K, de Toffol B, Georgesco G, Cassarini JF, Machet MC, Cottier JP, Arbeille B, Autret A. [Ehlers Danlos type IV syndrome presenting with simultaneous dissection of both internal carotid and both vertebral arteries]. Rev Neurol (Paris). 2004;160(4 Pt 1):478-82.
Uitto J, Ringpfeil F. Ehlers-Danlos syndrome-molecular genetics beyond the collagens. J Invest Dermatol. 2004;122(4):xii-xiii.
Zweers MC, van Vlijmen-Willems IM, van Kuppevelt TH, Mecham RP, Steijlen PM, Bristow J, Schalkwijk J. Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol. 2004;122(4):885-91.
Schievink WI. Cerebrovascular Involvement in Ehlers-Danlos Syndrome. Curr Treat Options Cardiovasc Med. 2004;6(3):231-236.
Wenstrup RJ, Florer JB, Cole WG, Willing MC, Birk DE. Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome. J Cell Biochem. 2004;92(1):113-24.
Chiquet-Ehrismann R, Tucker RP. Connective tissues: signalling by tenascins. Int J Biochem Cell Biol. 2004;36(6):1085-9.
Chiquet-Ehrismann R. Tenascins. Int J Biochem Cell Biol. 2004;36(6):986-90.
Gardella R, Zoppi N, Assanelli D, Muiesan ML, Barlati S, Colombi M. Exclusion of candidate genes in a family with arterial tortuosity syndrome. Am J Med Genet A. 2004;126(3):221-8.
Boudoulas H. Etiology of valvular heart disease. Expert Rev Cardiovasc Ther. 2003;1(4):523-32.
Parrini S, Bellosi A, Barducci A, Bianciardi G, Latini G, De Felice C. Abnormal oral mucosal light reflectance: a new clinical sign of Ehlers-Danlos syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004;97(3):335-8.
Boutouyrie P, Germain DP, Fiessinger JN, Laloux B, Perdu J, Laurent S. Increased carotid wall stress in vascular Ehlers-Danlos syndrome. Circulation. 2004;109(12):1530-5.
Hagberg C, Korpe L, Berglund B. Temporomandibular joint problems and self-registration of mandibular opening capacity among adults with Ehlers-Danlos syndrome. A questionnaire study. Orthod Craniofac Res. 2004;7(1):40-6.
Rose PS, Johnson CA, Hungerford DS, McFarland EG. Total knee arthroplasty in Ehlers-Danlos syndrome. J Arthroplasty. 2004;19(2):190-6.
Zoppi N, Gardella R, De Paepe A, Barlati S, Colombi M. Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin. J Biol Chem. 2004;279(18):18157-68.
Fuchs JR, Fishman SJ. Management of spontaneous colonic perforation in Ehlers-Danlos syndrome type IV. J Pediatr Surg. 2004;39(2):e1-3.
Brunk I, Stover B, Ikonomidou C, Brinckmann J, Neumann LM. Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl. Eur J Pediatr. 2004;163(4-5):214-7.
Whitelaw SE. Ehlers-Danlos Syndrome, classical type: case management. Pediatr Nurs. 2003;29(6):423-6.
Matziolis G, Drahn T, Perka C. [Spontaneous patellar tendon rupture in a patient with Ehlers-Danlos syndrome]. Unfallchirurg. 2003;106(12):1051-3.
Sugawara Y, Ban K, Imai K, Okada K, Watari M, Orihashi K, Sueda T, Naitoh A. Successful coil embolization for spontaneous arterial rupture in association with Ehlers-Danlos syndrome type IV: report of a case. Surg Today. 2004;34(1):94-6.
Kurata A, Oka H, Ohmomo T, Ozawa H, Suzuki S, Fujii K, Kan S, Miyasaka Y, Arai H. Successful stent placement for cervical artery dissection associated with the Ehlers-Danlos syndrome. Case report and review of the literature. J Neurosurg. 2003;99(6):1077-81.
Perdu J. [Mendelian arterial diseases. Pseudoxanthoma elasticum, Ehlers-Danlos vascular syndrome, Rendu-Osler disease]. Arch Mal Coeur Vaiss. 2003;96(11):1096-104.
Jondeau G, Muti C, Boileau C. [Aortic aneurysms excluding Marfan's syndrome]. Arch Mal Coeur Vaiss. 2003;96(11):1074-80.
Schievink WI, Gordon OK, Tourje J. Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: a prospective study. Neurosurgery. 2004;54(1):65-70; discussion 70-1.
Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. Am J Med Genet A. 2004;124(1):28-34.
Kuczkowski KM. Labor analgesia for the parturient with an uncommon disorder: a common dilemma in the delivery suite. Obstet Gynecol Surv. 2003;58(12):800-3.
Dieter RS, Murtaugh T, Black J, Russell DC. Coronary arteriomegaly in a patient with Ehlers-Danlos syndrome and multiple aneurysms--a case report. Angiology. 2003;54(6):733-6.
Schmutz JL. [Dermatological diseases influenced by pregnancy]. Presse Med. 2003;32(38):1809-12. French.
Sienaert P, De Hert M, Houben M, Bouckaert F, Wyckaert S, Hagon B, Hagon A, Peuskens J. Safe ECT in a patient with the Ehlers-Danlos syndrome. J ECT. 2003;19(4):230-3.
Goodyear PW, Strachan DR, Firth AL. Intermittent self-nasal packing for intractable epistaxis in a patient with Ehlers-Danlos syndrome. J Laryngol Otol. 2003;117(10):827-8.
Franceschini P, Guala A, Licata D, Di Cara GG, Franceschini D. A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries? Acta Paediatr. 2003;92(10):1230; author reply 1230.
Eisenbeiss C, Martinez A, Hagedorn-Greiwe M, Reinhardt DP, Batge B, Brinckmann J. Reduced skin thickness: a new minor diagnostic criterion for the classical and hypermobility types of Ehlers-Danlos syndrome. Br J Dermatol. 2003;149(4):850-2.
Walsh S. A 6-year-old contortionist. J Pediatr Health Care. 2003;17(6):320, 341-2.
Czarny-Ratajczak M, Latos-Bielenska A. Collagens, the basic proteins of the human body. J Appl Genet. 2000;41(4):317-30.
Yeh TC, Yeung CY, Sheu JC, Lee HC, Lin SP, Hsu CH, Lee YJ, Chiu NC, Ho CS. Percutaneous endoscopic gastrostomy in children: 15 cases experience. Acta Paediatr Taiwan. 2003;44(3):135-9.
Shepherd RF, Rooke T. Uncommon arteriopathies: what the vascular surgeon needs to know. Semin Vasc Surg. 2003;16(3):240-51.
Colloca CJ, Polkinghorn BS. Chiropractic management of Ehlers-Danlos syndrome: a report of two cases. J Manipulative Physiol Ther. 2003;26(7):448-59.
De Coster PJ, Malfait F, Martens LC, De Paepe A. Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC). J Oral Pathol Med. 2003;32(9):568-70.
Joussen AM, Walter P, Jonescu-Cuypers CP, Koizumi K, Poulaki V, Bartz-Schmidt KU, Krieglstein GK, Kirchhof B. Retinectomy for treatment of intractable glaucoma: long term results. Br J Ophthalmol. 2003;87(9):1094-102.
Berglund B, Mattiasson AC, Nordstrom G. Acceptance of disability and sense of coherence in individuals with Ehlers-Danlos syndrome. J Clin Nurs. 2003;12(5):770-7.
Guan H, Zheng Y, Liu C, Li Y, Li B, Liu B. Surgical management of Ehlers-Danlos syndrome: first report of a pedigree in China. Chin Med Sci J. 2002;17(3):178-82.
Nienaber CA, Eagle KA. Aortic dissection: new frontiers in diagnosis and management: Part I: from etiology to diagnostic strategies. Circulation. 2003;108(5):628-35.
Carrel T, Berdat P, Pavlovic M, Sukhanov S, Englberger L, Pfammatter JP. Surgery of the dilated aortic root and ascending aorta in pediatric patients: techniques and results. Eur J Cardiothorac Surg. 2003;24(2):249-54.
Wilcken DE. Overview of inherited metabolic disorders causing cardiovascular disease. J Inherit Metab Dis. 2003;26(2-3):245-57.
Jaeken J. Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it! J Inherit Metab Dis. 2003;26(2-3):99-118.
Kakko S, Raisanen T, Tamminen M, Airaksinen J, Groundstroem K, Juvonen T, Ylitalo A, Uusimaa P, Savolainen MJ. Candidate locus analysis of familial ascending aortic aneurysms and dissections confirms the linkage to the chromosome 5q13-14 in Finnish families. J Thorac Cardiovasc Surg. 2003;126(1):106-13.
Zweers MC, Bristow J, Steijlen PM, Dean WB, Hamel BC, Otero M, Kucharekova M, Boezeman JB, Schalkwijk J. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. Am J Hum Genet. 2003;73(1):214-7.
Chiquet-Ehrismann R, Chiquet M. Tenascins: regulation and putative functions during pathological stress. J Pathol. 2003;200(4):488-99.
Fichard A, Chanut-Delalande H, Ruggiero F. [The Ehlers-Danlos syndrome: the extracellular matrix scaffold in question]. Med Sci (Paris). 2003;19(4):443-52.
Sharma Y, Sudan R, Gaur A. Post traumatic subconjunctival dislocation of lens in Ehlers-Danlos syndrome. Indian J Ophthalmol. 2003;51(2):185-6.
Furukawa K, Okajima T, Nakamura Y. [XGalT-1 involved in the synthesis of glyosaminoglycans of proteoglycans and Ehlers-Danlos syndrome (progeroid type)]. Tanpakushitsu Kakusan Koso. 2003;48(8 Suppl):1152-7.
Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Ul Haque NF, Teebi AS. A new type of Ehlers-Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar. Acta Paediatr. 2003;92(4):456-62.
Gogin EE, Belov IuV, Temerin VP, Gordeev AV. [A case of Ehlers-Danlos syndrome with subsequent formation of aneurysms of femoral, carotid ]. Ter Arkh. 2003;75(4):60-2.
Palmeri S, Mari F, Meloni I, Malandrini A, Ariani F, Villanova M, Pompilio A, Schwarze U, Byers PH, Renieri A. Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism. Clin Genet. 2003;63(6):510-5.
Gorbatenkova SV, Drapkina OM, Kuznetsov NE, Ivashkin VT. [Connective tissue dysplasia syndrome in cardiological practice]. Klin Med (Mosk). 2003;81(4):67-9.
Sidwell RU, Francis N, Grahame R, Pope FM, Bunker CB. Connective tissue naevus (collagenoma) in a patient with benign joint hypermobility syndrome (Ehlers-Danlos syndrome type III). Clin Exp Dermatol. 2003;28(3):323-5.
Rahman N, Dunstan M, Teare MD, Hanks S, Douglas J, Coleman K, Bottomly WE, Campbell ME, Berglund B, Nordenskjold M, Forssell B, Burrows N, Lunt P, Young I, Williams N, Bignell GR, Futreal PA, Pope FM. Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. Am J Hum Genet. 2003;73(1):198-204.
Wiedeman JE, Ritter EM. Use of porcine small intestinal submucosa in Ehlers-Danlos syndrome Type IV. Am Surg. 2003;69(5):424-6.
Uzawa K, Yeowell HN, Yamamoto K, Mochida Y, Tanzawa H, Yamauchi M. Lysine hydroxylation of collagen in a fibroblast cell culture system. Biochem Biophys Res Commun. 2003;305(3):484-7.
Turpin JI, Gonzalez-Herrero BR, Saez VV, Herrero JC. Radiology quiz case 2: Ehlers-Danlos syndrome (EDS) type IV, vascular form. Arch Otolaryngol Head Neck Surg. 2003;129(5):595, 597.
Aldridge JM 3rd, Perry JJ, Osbahr DC, Speer KP. Thermal capsulorraphy of bilateral glenohumeral joints in a pediatric patient with Ehlers-Danlos syndrome. Arthroscopy. 2003;19(5):E41.
Paluru P, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Makitie O, Cole WG, King RA, Young TL. New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci. 2003;44(5):1830-6.
Akpinar S, Gogus A, Talu U, Hamzaoglu A, Dikici F. Surgical management of the spinal deformity in Ehlers-Danlos syndrome type VI. Eur Spine J. 2003;12(2):135-40.
Kroes HY, Pals G, van Essen AJ. Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. Clin Genet. 2003;63(3):224-7.
Paciello O, Lamagna F, Lamagna B, Papparella S. Ehlers-Danlos-like syndrome in 2 dogs: clinical, histologic, and ultrastructural findings. Vet Clin Pathol. 2003;32(1):13-8.
Wang WM, Lee S, Steiglitz BM, Scott IC, Lebares CC, Allen ML, Brenner MC, Takahara K, Greenspan DS. Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase. J Biol Chem. 2003;278(21):19549-57.
Zuccoli G, Guidetti D, Nicoli F, Giovanardi F, Ferrozzi F. Carotid and vertebral artery dissection: Magnetic Resonance findings in 15 cases. Radiol Med (Torino). 2002;104(5-6):466-71.
Caro I, Zembowicz A. Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 5-2003 - a 16-year-old girl with a rash and chest pain. N Engl J Med. 2003;348(7):630-7.
Touze E, Gauvrit JY; National study group. [Natural history of cervical arterial dissections of the literature and preliminary results from a national study group]. J Neuroradiol. 2002;29(4):251-6.
Wasilewski K. [Effect of osteotomy metal plate anastomosis with the femur on stimulation of lower femur growth in children]. Ann Acad Med Stetin. 2001;47:189-205.
Yasui H, Adachi Y, Minami T, Ishida T, Kato Y, Imai K. Combination therapy of DDAVP and conjugated estrogens for a recurrent large subcutaneous hematoma in Ehlers-Danlos syndrome. Am J Hematol. 2003;72(1):71-2.
Kolekar S, Sundaram P, Joshi JM. Bullous lungs: diverse aetiology. Postgrad Med J. 2002;78(925):689, 692.
Nishida T, Ishihara S, Kaji T, Tajima S, Tanabe H, Motoyoshi K, Kamakura K. Polycystic kidney disease associated with cervical arteriovenous shunt and bilateral jugular vein occlusion. Intern Med. 2002;41(11):1036-8.
Van der Eecken H, Schatteman P, Carpentier P, Mottrie A, Fonteyne E. Major intra-abdominal complications following extracorporeal shockwave lithotripsy (ESWL) in a patient with Ehlers-Danlos syndrome. Eur Urol. 2002;42(6):635-6.
Hussein Gonzalez Z, Monzon Rubio E, Farina Castro R, Ojeda Betancor N, Rodriguez-Perez A. [Anesthesia considerations in Ehlers-Danlos syndrome]. Rev Esp Anestesiol Reanim. 2002;49(8):438-9.
Jazayeri S, Gomez MC, Tatou E, Saleh M, Parthiot JP, Brenot R, David M. Fatal cardiovascular complications in a patient with Ehlers-Danlos syndrome type IV and dextrocardia. Cardiovasc Surg. 2002;10(6):640-3.
Furukawa K, Okajima T. Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations. Biochim Biophys Acta. 2002;1573(3):377-81.
Zheng Y, Guan H, Zhang J, Liu C, Li Y, Li B, Huang Z. Ehlers-Danlos syndrome: case and pedigree report and review. Zhonghua Yu Fang Yi Xue Za Zhi. 2002;36(7):491-4.
Wijesuriya SD, Bristow J, Miller WL. Localization and analysis of the principal promoter for human tenascin-X. Genomics. 2002;80(4):443-52.
Akar A, G l D, Erdem Z, Sarathchandra P, Tysoe C, Pope M. Acrogeric Ehlers-Danlos syndrome type IV: report of a new patient with additional findings. Eur J Dermatol. 2002;12(5):428-31.
Koppens PF, Hoogenboezem T, Degenhart HJ. Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions. Hum Mol Genet. 2002;11(21):2581-90.
Dahan D, Fenichel GM, El-Said R. Neurocutaneous syndromes. Adolesc Med. 2002;13(3):495-509.
Sultan S, Morasch M, Colgan MP, Madhavan P, Moore D, Shanik G. Operative and endovascular management of extracranial vertebral artery aneurysm in Ehlers-Danlos syndrome:a clinical dilemma--case report and literature review. Vasc Endovascular Surg. 2002;36(5):389-92.
Megarbane A, Vabres P, Slaba S, Smahi A, Loeys B, Okais N. Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms. Am J Med Genet. 2002;112(1):95-8.
Wieczorek P, Chlubek D. [Molecular basis of the classical type of Ehlers-Danlos syndrome]. Wiad Lek. 2002;55(5-6):332-7.
Grond-Ginsbach C, Schnippering H, Hausser I, Weber R, Werner I, Steiner HH, Luttgen N, Busse O, Grau A, Brandt T. Ultrastructural connective tissue aberrations in patients with intracranial aneurysms. Stroke. 2002;33(9):2192-6.
Ameye L, Young MF. Mice deficient in small leucine-rich proteoglycans: novel in vivo models for osteoporosis, osteoarthritis, Ehlers-Danlos syndrome, muscular dystrophy, and corneal diseases. Glycobiology. 2002;12(9):107R-16R.
Sastry PS. Matrix metalloproteinase inhibitor therapy to prevent complications as well as therapy for Ehler-Danlos syndrome. Med Hypotheses. 2002;59(3):314-5.
Tsai-Goodman B, Martin RP, Pope FM, Stuart AG. Pulmonary valvuloplasty in a case of vascular Ehlers-Danlos syndrome. Catheter Cardiovasc Interv. 2002;57(1):92-4.
Patel AB, Renge RL. Ehler-Danlos syndrome. Indian Pediatr. 2002;39(8):784-5.
Schievink WI, Link MJ, Piepgras DG, Spetzler RF. Intracranial aneurysm surgery in Ehlers-Danlos syndrome Type IV. Neurosurgery. 2002;51(3):607-11; discussion 611-3.
Soonawalla Z, Pope FM, Puntis M. Type IV Ehlers-Danlos syndrome: a surgical emergency. Postgrad Med J. 2002;78(922):501-2, 506.
Wenstrup RJ, Meyer RA, Lyle JS, Hoechstetter L, Rose PS, Levy HP, Francomano CA. Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. Genet Med. 2002;4(3):112-7.
Hassan I, Rasmussen TE, Schwarze U, Rose PS, Whiteman DA, Gloviczki P. Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy. Mayo Clin Proc. 2002;77(8):861-3.
Caksen H, Cesur Y, Tombul T, Uner A, Kirimi E, Tuncer O, Odabas D. A case of Melkersson-Rosenthal syndrome associated with Ehlers-Danlos syndrome. Genet Couns. 2002;13(2):183-6.
Straub AM, Grahame R, Scully C, Tonetti MS. Severe periodontitis in Marfan's syndrome: a case report. J Periodontol. 2002;73(7):823-6.
Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H, Smith LT, Byers PH, Greenspan DS. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. Am J Hum Genet. 2002;71(3):451-65.
Chuman H, Trobe JD, Petty EM, Schwarze U, Pepin M, Byers PH, Deveikis JP. Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature. J Neuroophthalmol. 2002;22(2):75-81.
Purdy PD. Managing carotid-cavernous fistulas in Ehlers-Danlos syndrome type IV. J Neuroophthalmol. 2002;22(2):73-4.
Eyre D, Shao P, Weis MA, Steinmann B. The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine. Mol Genet Metab. 2002;76(3):211-6.
Corsi A, Xu T, Chen XD, Boyde A, Liang J, Mankani M, Sommer B, Iozzo RV, Eichstetter I, Robey PG, Bianco P, Young MF. Phenotypic effects of biglycan deficiency are linked to collagen fibril abnormalities, are synergized by decorin deficiency, and mimic Ehlers-Danlos-like changes in bone and other connective tissues. J Bone Miner Res. 2002;17(7):1180-9.
Jepsen KJ, Wu F, Peragallo JH, Paul J, Roberts L, Ezura Y, Oldberg A, Birk DE, Chakravarti S. A syndrome of joint laxity and impaired tendon integrity in lumican- and fibromodulin-deficient mice. J Biol Chem. 2002;277(38):35532-40.
Cikrit DF, Glover JR, Dalsing MC, Silver D. The Ehlers-Danlos specter revisited. Vasc Endovascular Surg. 2002;36(3):213-7.
Hovan MJ. Photo quiz. Foot bumps: now you see them, now you don't. Am Fam Physician. 2002;65(11):2327-8.
Armstrong DN, Frankum C, Schertzer ME, Ambroze WL, Orangio GR. Harmonic scalpel hemorrhoidectomy: five hundred consecutive cases. Dis Colon Rectum. 2002;45(3):354-9.
Mozes G, Gloviczki P, Park WM, Schultz HL, Andrews JC. Spontaneous dissection of the infrarenal abdominal aorta. Semin Vasc Surg. 2002;15(2):128-36.
Perez LA, Al-Shammari KF, Giannobile WV, Wang HL. Treatment of periodontal disease in a patient with Ehlers-Danlos syndrome. A case report and literature review. J Periodontol. 2002;73(5):564-70.
Carvalho G, Silva AA, Bestetti RB, Leme-Neto AC. Long-term survival in truncus arteriosus communis type A1 associated with Ehlers-Danlos syndrome--a case report. Angiology. 2002;53(3):363-5.
Germain DP. Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Vasc Surg. 2002;16(3):391-7.
Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. Am J Med Genet. 2002;109(4):284-90.
Campbell N, Rosaeg OP. Anesthetic management of a parturient with Ehlers Danlos syndrome type IV. Can J Anaesth. 2002;49(5):493-6.
Barakat J, Belleguic C, Le Garff G, Bassen R, Briens E, Meunier C, Delaval P. [Treatment of tracheobronchomegaly with an Ultraflex prosthesis. A case report]. Rev Pneumol Clin. 2002;58(1):19-22.
Bohm S, Behrens P, Martinez-Schramm A, Lohr JF. [Ehlers-Danlos syndrome. A review]. Orthopade. 2002;31(1):108-20.
Lind J, Wallenburg HC. Pregnancy and the Ehlers-Danlos syndrome: a retrospective study in a Dutch population. Acta Obstet Gynecol Scand. 2002;81(4):293-300.
Seidel J, Moller LB, Mentzel HJ, Kauf E, Vogt S, Patzer S, Wollina U, Zintl F, Horn N. Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. Cell Mol Biol (Noisy-le-grand). 2001;47 Online Pub:OL141-8.
Mao JR, Taylor G, Dean WB, Wagner DR, Afzal V, Lotz JC, Rubin EM, Bristow J. Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition. Nat Genet. 2002;30(4):421-5.
Verbraecken J, Declerck A, Van de Heyning P, De Backer W, Wouters EF. Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and Marfan: a questionnaire study. Clin Genet. 2001;60(5):360-5.
Shaikh S, Braun M, Eliason J. Spontaneous retrobulbar hemorrhage in type IV Ehlers-Danlos syndrome. Am J Ophthalmol. 2002;133(3):422-4.
Watanabe A, Kawabata Y, Okada O, Tanabe N, Kimura H, Hatamochi A, Shinkai H, Sakai N, Shimada T, Hiroshima K, Kuriyama T. Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene. Eur Respir J. 2002;19(1):195-8.
Cheetham D. Ehlers Danlos syndrome. Br Dent J. 2002;192(1):3.
Sakai LY, Byers PH, Ramirez F. A report on the 3rd Workshop on Heritable Disorders of Connective Tissue. Matrix Biol. 2002;21(1):7-13.
Hermanns-Le T, Pierard GE. Factor XIIIa-positive dendrocyte rarefaction in Ehlers-Danlos syndrome, classic type. Am J Dermatopathol. 2001;23(5):427-30.
Wollina U. [Skin alterations in Ehlers-Danlos syndrome]. Dtsch Med Wochenschr. 2002;127(3):100-1.
Rosel L, Blanco JR, Najera MJ, Metola L, Casas E. [Ecchymosis and dyspnea in a 66-year old male]. Rev Clin Esp. 2001;201(11):671-2.
Ostermaier R. Uses of error: examination. Lancet. 2001 Dec 22-29;358(9299):2109.
Noordzij MJ, Hanlo-Ploeger AE, Peters JA, Jansen NJ, Hitchcock JF, Meijboom EJ. [Rupture of thoracic aneurysm in a 10-year old boy]. Ned Tijdschr Geneeskd. 2001;145(49):2388-91.
Kay RM, Skaggs DL. Bilateral hip dislocations in a father and son with Ehlers-Danlos syndrome. Orthopedics. 2001;24(12):1165-6.
Puri P, Gupta M, Chan J. Spontaneous perforation of the globe in Ehlers Danlos syndrome. Eye. 2001;15(Pt 4):553-4.
Colige A, Vandenberghe I, Thiry M, Lambert CA, Van Beeumen J, Li SW, Prockop DJ, Lapiere CM, Nusgens BV. Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3. J Biol Chem. 2002;277(8):5756-66.
Dame C, Hausser I, Geukens J, Brenner RE. Special feature: pathological case of the month. Arch Pediatr Adolesc Med. 2001;155(11):1275-6.
Bohm S, Martinez-Schramm A, Gille J, Behrens P. Missing inferior labial and lingual frenula in Ehlers-Danlos syndrome. Lancet. 2001;358(9293):1647-8.
Kato T, Hattori H, Yorifuji T, Tashiro Y, Nakahata T. Intracranial aneurysms in Ehlers-Danlos syndrome type IV in early childhood. Pediatr Neurol. 2001;25(4):336-9.
Wolf P. Creativity and chronic disease. Niccolo Paganini (1782-1840). West J Med. 2001;175(5):345.
Mehta RK, Burrows NP, Payne CM, Mendelsohn SS, Pope FM, Rytina E. Elastosis perforans serpiginosa and associated disorders. Clin Exp Dermatol. 2001;26(6):521-4.
Philippon MJ. The role of arthroscopic thermal capsulorrhaphy in the hip. Clin Sports Med. 2001;20(4):817-29.
Palmer CA, Percy AK. Neuropathology of occipital horn syndrome. J Child Neurol. 2001;16(10):764-6.
Byers PH. An exception to the rule. N Engl J Med. 2001;345(16):1203-5.
Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med. 2001;345(16):1167-75.
Munz W, Schlembach D, Beinder E, Fischer T. Ehlers-Danlos syndrome type I in pregnancy: a case report. Eur J Obstet Gynecol Reprod Biol. 2001;99(1):126-8.
Golfier F, Peyrol S, Attia-Sobol J, Marret H, Raudrant D, Plauchu H. Hypermobility type of Ehlers-Danlos syndrome: influence of pregnancies. Clin Genet. 2001;60(3):240-1.
Schwarze U, Schievink WI, Petty E, Jaff MR, Babovic-Vuksanovic D, Cherry KJ, Pepin M, Byers PH. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Am J Hum Genet. 2001;69(5):989-1001.
Valkkila M, Melkoniemi M, Kvist L, Kuivaniemi H, Tromp G, Ala-Kokko L. Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. Matrix Biol. 2001;20(5-6):357-66.
Sayin AG, Bozkurt AK, Cangel U, Koksal C, Oz B. A brachial aneurysm in childhood caused by Ehlers-Danlos syndrome. J Cardiovasc Surg (Torino). 2001;42(5):687-9.
Wu J, Utani A, Endo H, Shinkai H. Deficiency of the decorin core protein in the variant form of Ehlers-Danlos syndrome with chronic skin ulcer. J Dermatol Sci. 2001;27(2):95-103.
Izumikawa Y. [Progeroid syndrome with Ehlers-Danlos features]. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):536.
Sarras MP Jr, Deutzmann R. Hydra and Niccolo Paganini (1782-1840)--two peas in a pod? The molecular basis of extracellular matrix structure in the invertebrate, Hydra. Bioessays. 2001;23(8):716-24.
Maltz SB, Fantus RJ, Mellett MM, Kirby JP. Surgical complications of Ehlers-Danlos syndrome type IV: case report and review of the literature. J Trauma. 2001;51(2):387-90.
Brounts SH, Rashmir-Raven AM, Black SS. Zonal dermal separation: a distinctive histopathological lesion associated with hyperelastosis cutis in a Quarter Horse. Vet Dermatol. 2001;12(4):219-24.
Jacome DE. Blepharoclonus and Arnold-Chiari malformation. Acta Neurol Scand. 2001;104(2):113-7.
Izumi M, Terao S, Osano Y, Hoshino A, Koshimura J, Tong J, Ikeda H, Itoh G. [An autopsy case of Ehlers-Danlos syndrome showing various types of cerebrovascular disease]. Rinsho Shinkeigaku. 2001 Feb-Mar;41(2-3):140-3.
Trichon BH, Zidar JP, Bashore TM, Donahue M, Sketch MH Jr. Acute myocardial infarction in a young female. J Invasive Cardiol. 2001;13(8):597-9, discussion 599-600.
Okamoto N. [Ehlers-Danlos syndrome]. Ryoikibetsu Shokogun Shirizu. 2001;(33):618-21.
Meyle J, Gonzales JR. Influences of systemic diseases on periodontitis in children and adolescents. Periodontol 2000. 2001;26:92-112.
Letourneau Y, Perusse R, Buithieu H. Oral manifestations of Ehlers-Danlos syndrome. J Can Dent Assoc. 2001;67(6):330-4.
McKee SA, Barnicoat A, Fryer A, Flinter F, McCormick D, McKeown C. Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome? Clin Dysmorphol. 2001;10(3):177-80.
Brandt T, Orberk E, Weber R, Werner I, Busse O, Muller BT, Wigger F, Grau A, Grond-Ginsbach C, Hausser I. Pathogenesis of cervical artery dissections: association with connective tissue abnormalities. Neurology. 2001;57(1):24-30.
Bick R. Vascular thrombohemorrhagic disorders: hereditary and acquired. Clin Appl Thromb Hemost. 2001;7(3):178-94.
Dagenais SL, Adam AN, Innis JW, Glover TW. A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease. Am J Hum Genet. 2001;69(2):420-7.
Aoki T, Yamaguchi Y, Omura I, Watanabe A, Shimizu N. [Menkes' disease and brain dysfunction]. No To Shinkei. 2001;53(5):427-35.
Iurassich S, Rocco D, Aurilia A. Type III Ehlers-Danlos syndrome: correlations among clinical signs, ultrasound, and histologic findings in a study of 35 cases. Int J Dermatol. 2001;40(3):175-8.
van der Peet DL, Klinkenberg-Knol EC, Berends FJ, Cuesta MA. Epiphrenic diverticula: minimal invasive approach and repair in five patients. Dis Esophagus. 2001;14(1):60-2.
Fernandes RJ, Hirohata S, Engle JM, Colige A, Cohn DH, Eyre DR, Apte SS. Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis. J Biol Chem. 2001;276(34):31502-9.
Stoler JM, Bromley B, Castro MA, Cole WG, Florer J, Wenstrup RJ. Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression. Am J Med Genet. 2001;101(2):174-7.
Oka N, Aomi S, Tomioka H, Endo M, Koyanagi H. Surgical treatment of multiple aneurysms in a patient with Ehlers-Danlos syndrome. J Thorac Cardiovasc Surg. 2001;121(6):1210-1.
De Felice C, Toti P, Di Maggio G, Parrini S, Bagnoli F. Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome. Lancet. 2001;357(9267):1500-2.
Adachi T, Hashiguchi K, Arai Y, Ohta H. Clinical study of venous thromboembolism during pregnancy and puerperium. Semin Thromb Hemost. 2001;27(2):149-53.
Grahame R, Bird H. British consultant rheumatologists' perceptions about the hypermobility syndrome: a national survey. Rheumatology (Oxford). 2001;40(5):559-62.
Vaughan CJ, Casey M, He J, Veugelers M, Henderson K, Guo D, Campagna R, Roman MJ, Milewicz DM, Devereux RB, Basson CT. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation. 2001;103(20):2469-75.
Marian AJ. On genetics, inflammation, and abdominal aortic aneurysm: can single nucleotide polymorphisms predict the outcome? Circulation. 2001;103(18):2222-4.
Jansen T, Paepe AD, Nuytinck L, Altmeyer P. Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene. Br J Dermatol. 2001;144(5):1086-7.
Handa S, Sethuraman G, Mohan A, Sharma VK. Ehlers-Danlos syndrome with bladder diverticula. Br J Dermatol. 2001;144(5):1084-5.
Reichel JL, Weston WL, Bellus G, Morelli J. What syndrome is this? Ehlers-Danlos syndrome. Pediatr Dermatol. 2001;18(2):156-8.
Wordsworth P, Halliday D. The real connective tissue diseases. Clin Med. 2001;1(1):21-4.
Traub K, Stage KH. The Ehlers-Danlos syndrome presenting with flank pain. J Urol. 2001;165(5):1614.
Mao JR, Bristow J. The Ehlers-Danlos syndrome: on beyond collagens. J Clin Invest. 2001;107(9):1063-9.
Habib K, Memon MA, Reid DA, Fairbrother BJ. Spontaneous common iliac arteries rupture in Ehlers-Danlos syndrome type IV: report of two cases and review of the literature. Ann R Coll Surg Engl. 2001;83(2):96-104.
Myllyharju J, Kivirikko KI. Collagens and collagen-related diseases. Ann Med. 2001;33(1):7-21.
Dubois PE, Veyckemans F, Ledent MM, Michel M, de Clety SC. Anaesthetic management of a child with type VIIc Ehlers-Danlos syndrome. Acta Anaesthesiol Belg. 2001;52(1):21-4.
De Paepe A, Nuytinck L. Heritable collagen disorders: from genotype to phenotype. Acta Clin Belg. 2001;56(1):10-6.
Giordano N, Geraci S, Santacroce C, Gennari C, Bianciardi L. [Usefulness of online bibliographic research in biomedical research, with an application to the epidemiologic study of genetic osteopathy]. Ann Ist Super Sanita. 2000;36(3):351-61.
Nicholls AC, Valler D, Wallis S, Pope FM. Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype. J Med Genet. 2001;38(2):132-6.
Bloch R, Hoffer E, Borsa J, Fontaine A. Ehlers-Danlos syndrome mimicking mesenteric vasculitis: therapy, then diagnosis. J Vasc Interv Radiol. 2001;12(4):527-9.
Rauma T, Kumpumaki S, Anderson R, Davidson BL, Ruotsalainen H, Myllyla R, Hautala T. Adenoviral gene transfer restores lysyl hydroxylase activity in type VI Ehlers-Danlos syndrome. J Invest Dermatol. 2001;116(4):602-5.
Bouma P, Cabral WA, Cole WG, Marini JC. COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II. J Biol Chem. 2001;276(16):13356-64.
de Paiva Magalhaes E, Fernandes SR, Zanardi VA, Furtado Medeiros CA, Midori RY, Sachetto Z, Samara AM. Ehlers-Danlos syndrome type IV and multiple aortic aneurysms--a case report. Angiology. 2001;52(3):223-8.
Gu YH, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC. ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. Am J Med Genet. 2001;99(3):217-22.
Pfohman M, Criddle LM. Epidemiology of intracranial aneurysm and subarachnoid hemorrhage. J Neurosci Nurs. 2001;33(1):39-41.
Pasch MC, Sillevis Smitt JH, Veenhuizen L, Kuiters GR, van Essen AJ. [Boy with dermatosparaxis (Ehlers-Danlos type VIIC)]. Ned Tijdschr Geneeskd. 2000;144(50):2435-6.
Jarmulowicz M, Phillips WG. Vascular Ehlers-Danlos syndrome undiagnosed during life. J R Soc Med. 2001;94(1):28-30.
Indart A, Zugasti P, Alzate LF, Arenas JI. [Ehlers-Danlos syndrome associated with acute pancreatitis]. Gastroenterol Hepatol. 2001;24(1):13-5.
Karrer S, Landthaler M, Schmalz G. Ehlers-Danlos type VIII of the literature. Clin Oral Investig. 2000;4(2):66-9.
Imamura A, Nakamoto H, Inoue T, Yamada H, Okuno M, Takai S, Komada H, Kwon AH, Kamiyama Y. Ruptured dissecting aneurysm in bilateral iliac arteries caused by Ehlers-Danlos syndrome type IV: report of a case. Surg Today. 2001;31(1):85-9.
Nekrysh SY. Association between heritable connective tissue disorders and intracranial aneurysms. Surg Neurol. 2000;54(1):77-8.
Podesta A, Crivellari R, Dottori V, Parodi E, Passerone G. Anaemia, osteogenesis imperfecta and valve diseases. The preoperative treatment with epoetin-alpha to increase haematocrit and haemoglobin levels in patients with high risk of perioperative bleeding. Minerva Cardioangiol. 2000;48(10):323-7.
[No authors listed] Correction: Clinical and Genetic Features of Ehlers-Danlos Syndrome Type IV, the Vascular Type. N Engl J Med. 2001;344(5):392.
Nishiyama Y, Nejima J, Watanabe A, Kotani E, Sakai N, Hatamochi A, Shinkai H, Kiuchi K, Tamura K, Shimada T, Takano T, Katayama Y. Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis. J Intern Med. 2001;249(1):103-8.
Tang BL. ADAMTS: a novel family of extracellular matrix proteases. Int J Biochem Cell Biol. 2001;33(1):33-44.
Hjalt TA, Amendt BA, Murray JC. PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome. J Cell Biol. 2001;152(3):545-52.
Roseborough GS, Williams GM. Marfan and other connective tissue disorders: conservative and surgical considerations. Semin Vasc Surg. 2000;13(4):272-82.
Jacome DE. Synkinetic blepharoclonus. J Neuroophthalmol. 2000;20(4):276-84.
Girotto JA, Malaisrie SC, Bulkely G, Manson PN. Recurrent ventral herniation in Ehlers-Danlos syndrome. Plast Reconstr Surg. 2000;106(7):1520-6.
Al Fadley F, Al Manea W, Nykanen DG, Al Fadley A, Bulbul Z, Al Halees Z. Severe tortuosity and stenosis of the systemic, pulmonary and coronary vessels in 12 patients with similar phenotypic features: a new syndrome? Cardiol Young. 2000;10(6):582-9.
Levine MP. Survival of an aortic trauma patient with Ehlers-Danlos syndrome type IV: a case report. J Vasc Surg. 2000;32(6):1219-21.
Bachiller Burgos J, Varo Solis C, Baez JM, Estudillo F, Juarez Soto A, Soto Delgado M, Beltran Aguilar V, Gonzalez Moreno D, Sanchez Bernal C, Rodriguez-Rubio F. [Congenital bladder diverticulum and Ehlers-Danlos syndrome: an unusual association]. Actas Urol Esp. 2000;24(8):673-6.
Nicholls AC, Sher JL, Wright MJ, Oley C, Mueller RF, Pope FM. Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII. J Med Genet. 2000;37(11):E33.
De Toma G, Plocco M, Nicolanti V, Cavallaro G, Amato D, Letizia C. [Arterial aneurysms associated with cystic hepato-renal disease]. Presse Med. 2000;29(28):1559-61.
Mentzel HJ, Seidel J, Fitzek C, Vogt S, Zintl F, Kaiser WA. Intracranial and extracranial MR angiography in occipital horn syndrome. Eur Radiol. 2000;10(10):1683.
Konomi H. [Ehlers-Danlos syndrome]. Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):503-5.
Deutzmann R, Fowler S, Zhang X, Boone K, Dexter S, Boot-Handford RP, Rachel R, Sarras MP Jr. Molecular, biochemical and functional analysis of a novel and developmentally important fibrillar collagen (Hcol-I) in hydra. Development. 2000;127(21):4669-80.
Kanner AA, Maimon S, Rappaport ZH. Treatment of spontaneous carotid-cavernous fistula in Ehlers-Danlos syndrome by transvenous occlusion with Guglielmi detachable coils. Case report and review of the literature. J Neurosurg. 2000;93(4):689-92.
Yeowell HN, Walker LC. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. Mol Genet Metab. 2000;71(1-2):212-24.
Gupta P, Gleeson AP. A rare case of head injury associated with Ehlers-Danlos syndrome. Injury. 2000;31(8):641-3.
Ratani RS, Yang DC, Kalani J, Winer-Muram HT, Okadigwe C, Siddalingappa M, Steiner RM. An intrathoracic wandering spleen in a patient with Ehlers-Danlos syndrome and diaphragmatic hernia. Clin Nucl Med. 2000;25(9):738-9.
Rivera IR, Gomes L, Moises VA, Silva CC, Andrade JL, Carvalho AC. Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis. Arq Bras Cardiol. 2000;75(2):137-44.
Raff ML, Craigen WJ, Smith LT, Keene DR, Byers PH. Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII. Hum Genet. 2000;106(1):19-28.
Fahrer CN, Zitoun O, Shanahan EA. Pizza and perforations: a case of type IV Ehlers-Danlos syndrome. Aust N Z J Surg. 2000;70(9):684-6.
Cole AS, Hill GA, Abela M, Carr AJ. Recurrent instability of the elbow in the Ehlers-Danlos syndrome. A report of three cases and a new technique of surgical stabilisation. J Bone Joint Surg Br. 2000;82(5):702-4.
Grahame R. Hypermobility--not a circus act. Int J Clin Pract. 2000;54(5):314-5.
Steinmann B, Giunta C. The devil of the one letter code and the Ehlers-Danlos syndrome: corrigendum. Am J Med Genet. 2000;93(4):342.
Morcuende JA, Arauz S, Weinstein SL. Stress fracture of the hip and pubic rami after fusion to the sacrum in an adult with scoliosis: a case report. Iowa Orthop J. 2000;20:79-84.
Pinto YM, Pals G, Zijlstra JG, Tulleken JE. Ehlers-Danlos syndrome type IV. N Engl J Med. 2000;343(5):366-8.
Barabas AP. Ehlers-Danlos syndrome type IV. N Engl J Med. 2000;343(5):366;
Grahame R. Heritable disorders of connective tissue. Baillieres Best Pract Res Clin Rheumatol. 2000;14(2):345-61.
Pflumio F, Andres E, Dervaux T, Muller M, Ubrich M, Geisler F. [Ehlers-Danlos syndrome disclosed by an intramural hematoma of the duodenum]. Ann Med Interne (Paris). 2000;151(4):320-1.
Giunta C, Steinmann B. Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. Hum Mutat. 2000;16(2):176-7.
de Moraes AM, Cintra ML, Sampaio S de A, Sotto MN, Sesso A. The ultrastructural and histophotometric study of elastic and collagen fibers in type II Ehlers-Danlos syndrome and subclinical forms. Ultrastruct Pathol. 2000;24(3):129-34.
Carbone L, Tylavsky FA, Bush AJ, Koo W, Orwoll E, Cheng S. Bone density in Ehlers-Danlos syndrome. Osteoporos Int. 2000;11(5):388-92.
Stanitski DF, Nadjarian R, Stanitski CL, Bawle E, Tsipouras P. Orthopaedic manifestations of Ehlers-Danlos syndrome. Clin Orthop Relat Res. 2000;(376):213-21.
Dyamenahalli U, Smallhorn JF, Geva T, Fouron JC, Cairns P, Jutras L, Hughes V, Rabinovitch M, Mason CA, Hornberger LK. Isolated ductus arteriosus aneurysm in the fetus and infant: a multi-institutional experience. J Am Coll Cardiol. 2000;36(1):262-9.
Arteaga-Solis E, Gayraud B, Ramirez F. Elastic and collagenous networks in vascular diseases. Cell Struct Funct. 2000;25(2):69-72.
Oliver DW, Balan KK, Burrows NP, Hall PN. Dispersal of radioisotope labelled solution following deep dermal injection in Ehlers-Danlos syndrome. Br J Plast Surg. 2000;53(4):308-12.
Yeowell HN, Walker LC, Farmer B, Heikkinen J, Myllyla R. Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family. Hum Mutat. 2000;16(1):90.
Mistry BM, Solomon H, Garvin PJ, Durham RM, Turnage S, Bacon BR, Galvin N, Varma CR. Spontaneous rupture of the liver upon revascularization during transplantation. Transplantation. 2000;69(10):2214-8.
Parfitt J, Chalmers RT, Wolfe JH. Visceral aneurysms in Ehlers-Danlos syndrome: case report and review of the literature. J Vasc Surg. 2000;31(6):1248-51.
Carley ME, Schaffer J. Urinary incontinence and pelvic organ prolapse in women with Marfan or Ehlers Danlos syndrome. Am J Obstet Gynecol. 2000;182(5):1021-3.
Horowitz MB, Purdy PD, Valentine RJ, Morrill K. Remote vascular catastrophes after neurovascular interventional therapy for type 4 Ehlers-Danlos Syndrome. AJNR Am J Neuroradiol. 2000;21(5):974-6.
Pandeya NK. Operating on patients with Ehlers-Danlos syndrome. Plast Reconstr Surg. 2000;105(5):1904-5.
Ortiz Remacha PP, Candia J, Conde M. [Recurrent subdural hemorrhage as the form of presentation of a type-IV Ehlers-Danlos syndrome]. Rev Clin Esp. 2000;200(3):181-2.
Wieczorek P, Zawierta J, Rzeuski R. [Mutations of genes coding collagen type I--biochemical and clinical effects]. Postepy Hig Med Dosw. 2000;54(1):99-114.
Karkos CD, Prasad V, Mukhopadhyay U, Thomson GJ, Hearn AR. Rupture of the abdominal aorta in patients with Ehlers-Danlos syndrome. Ann Vasc Surg. 2000;14(3):274-7.
Schwarze U, Atkinson M, Hoffman GG, Greenspan DS, Byers PH. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am J Hum Genet. 2000;66(6):1757-65.
Makedonov GP, Tskhovrebova LV, Semiachkina AN, Zasukhina GD. [A defense mechanism of human cells in the radioadaptive response and antimutagenic activity of interferon has common paths]. Genetika. 2000;36(3):393-8.
Wenstrup RJ, Florer JB, Willing MC, Giunta C, Steinmann B, Young F, Susic M, Cole WG. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Am J Hum Genet. 2000;66(6):1766-76.
Bisconti M, Bisetti A, Bidoli P. Malignant mesothelioma in subjects with Marfan's syndrome and Ehlers-Danlos syndrome: only an apparent association? Respiration. 2000;67(2):223-8.
Tsunenari T, Ozawa K, Nyuukai K, Yo M, Fujita H, Uesaka K. [Ehlers-Danlos syndrome type IV complicated by intraperitoneal hemorrhage]. Nippon Naika Gakkai Zasshi. 2000;89(2):341-3.
Alizad A, Seward JB. Echocardiographic features of genetic diseases: part 4. Connective tissue. J Am Soc Echocardiogr. 2000;13(4):325-30.
Franceschini P, Guala A, Licata D, Di Cara G, Franceschini D. Arterial tortuosity syndrome. Am J Med Genet. 2000;91(2):141-3.
Selvaag E. Skin disease in military personnel. Mil Med. 2000;165(3):193-4.
Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le T, De Paepe A. Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. Am J Hum Genet. 2000;66(4):1398-402.
Yenicesu I, Uckan D, Soysal A, Buyukasik Y, Gumruk F. Platelet release defect in a child with Ehlers-Danlos syndrome. Pediatr Hematol Oncol. 2000;17(2):193-4.
Behrens P. [Ehlers-Danlos syndrome]. Z Orthop Ihre Grenzgeb. 2000;138(1):Oa12-4.
Pousi B, Heikkinen J, Schroter J, Pope M, Myllyla R. A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers-Danlos syndrome type VI. Mutat Res. 2000;432(1-2):33-7.
Erkan D, Yazici Y, Magid SK. Clinical Images: Ehlers-Danlos syndrome presenting as olecranon bursitis. Arthritis Rheum. 2000;43(3):714.
Imamura Y, Scott IC, Greenspan DS. The pro-alpha3(V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains. J Biol Chem. 2000;275(12):8749-59.
Florez A, Centeno PG, Fernandez-Redondo V, Toribio J. Clinical features of Ehlers-Danlos syndrome type VII in chromosome 6q deletion. Acta Derm Venereol. 2000;80(1):58-9.
Karrer S, Landthaler M, Schmalz G. Ehlers-Danlos syndrome type VIII with severe periodontitis and apical root resorption after orthodontic treatment. Acta Derm Venereol. 2000;80(1):56-7.
Pyeritz RE. Ehlers-Danlos syndrome. N Engl J Med. 2000;342(10):730-2.
Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med. 2000;342(10):673-80.
Blaszczyk M, Depaepe A, Nuytinck L, Glinska-Ferenz M, Jablonska S. Acrogeria of the Gottron type in a mother and son. Eur J Dermatol. 2000;10(1):36-40.
Rautavuoma K, Passoja K, Helaakoski T, Kivirikko KI. Complete exon-intron organization of the gene for human lysyl hydroxylase 3 (LH3). Matrix Biol. 2000;19(1):73-9.
Yeowell HN, Allen JD, Walker LC, Overstreet MA, Murad S, Thai SF. Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI. Matrix Biol. 2000;19(1):37-46.
Berglund B, Nordstrom G, Lutzen K. Living a restricted life with Ehlers-Danlos syndrome (EDS). Int J Nurs Stud. 2000;37(2):111-8.
Iglauer F, Wilmering G, Huisinga E, Wolm M, Lorke DE. [Cutaneous asthenia (Ehlers-Danlos syndrome) in a domestic rabbit]. Dtsch Tierarztl Wochenschr. 1999;106(12):500-5.
Ascione R, Gomes WJ, Bates M, Shannon JL, Pope FM, Angelini GD. Emergency repair of type A aortic dissection in type IV Ehlers-Danlos syndrome. Cardiovasc Surg. 2000;8(1):75-8.
De Panfilis G, Ghidini A, Graifemberghi S, Barlati S, Zoppi N, Colombi M. Dexamethasone-induced healing of chronic leg ulcers in a patient with defective organization of the extracellular matrix of fibronectin. Br J Dermatol. 2000;142(1):166-70.
Jansen O, Dorfler A, Forsting M, Hartmann M, von Kummer R, Tronnier V, Sartor K. Endovascular therapy of arteriovenous fistulae with electrolytically detachable coils. Neuroradiology. 1999;41(12):951-7.
Echaniz-Laguna A, de Saint-Martin A, Lafontaine AL, Tasch E, Thomas P, Hirsh E, Marescaux C, Andermann F. Bilateral focal polymicrogyria in Ehlers-Danlos syndrome. Arch Neurol. 2000;57(1):123-7.
Macsai MS, Lemley HL, Schwartz T. Management of oculus fragilis in Ehlers-Danlos type VI. Cornea. 2000;19(1):104-7.
Giunta C, Steinmann B. Compound heterozygosity for a disease-causing G1489E [correction of G1489D] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? Am J Med Genet. 2000;90(1):72-9.
Samper A, Bazan A. Treatment of recurrent mandibular dislocation: arthroplasty with cryopreserved bone allograft. Ann Plast Surg. 1999;43(6):673-4.