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Select item 64098751.

New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases

Anna Junkiert-Czarnecka, Maria Pilarska-Deltow, Aneta Bąk, Marta Heise, Olga Haus

Postepy Dermatol Alergol. 2019 Feb; 36(1): 29–33. Published online 2019 Feb 22. doi: 10.5114/ada.2018.79440

PMCID:: PMC6409875

Article PDF–134K

Select item 59936732.

Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

Sanne D'hondt, Tim Van Damme, Fransiska Malfait

Genet Med. 2018 Jun; 20(6): 562–573. Published online 2017 Oct 5. doi: 10.1038/gim.2017.138

PMCID:: PMC5993673

Article PDF–353K

Select item 57089963.

Vascular Ehlers–Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report

Min A. Park, So Youn Shin, Young Jin Kim, Myung Jae Park, Seung Hyeun Lee

Medicine (Baltimore) 2017 Nov; 96(47): e8853. Published online 2017 Nov 27. doi: 10.1097/MD.0000000000008853

PMCID:: PMC5708996

Article PDF–629K

Select item 48408564.

Brain injury unmasking Ehlers-Danlos syndromes after trauma: the fiber print

Claude Hamonet, Daniel Frédy, Jérémie H. Lefèvre, Sacha Bourgeois-Gironde, Jean-David Zeitoun

Orphanet J Rare Dis. 2016; 11: 45. Published online 2016 Apr 22. doi: 10.1186/s13023-016-0428-9

PMCID:: PMC4840856

Article PDF–1.8M

Select item 34359465.

Ehlers-Danlos Syndrome in Orthopaedics: Etiology, Diagnosis, and Treatment Implications

Eric D. Shirley, Marlene DeMaio, Joanne Bodurtha

Sports Health. 2012 Sep; 4(5): 394–403. doi: 10.1177/1941738112452385

PMCID:: PMC3435946

Article PDF–1011K

Select item 13780606.

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).

U Schwarze, M Atkinson, G G Hoffman, D S Greenspan, P H Byers

Am J Hum Genet. 2000 Jun; 66(6): 1757–1765. Published online 2000 May 4. doi: 10.1086/302933

PMCID:: PMC1378060

Summary PDF–1.2M

Select item 13780447.

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.

R J Wenstrup, J B Florer, M C Willing, C Giunta, B Steinmann, F Young, M Susic, W G Cole

Am J Hum Genet. 2000 Jun; 66(6): 1766–1776. Published online 2000 Apr 24. doi: 10.1086/302930

PMCID:: PMC1378044

Summary PDF–1.0M

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