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Items: 11

Select item 88350981.

Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review

Marta Martín-Martín, Jonathan Cortés-Martín, Maria Isabel Tovar-Gálvez, Juan Carlos Sánchez-García, Lourdes Díaz-Rodríguez, Raquel Rodríguez-Blanque

Int J Environ Res Public Health. 2022 Feb; 19(3): 1870. Published online 2022 Feb 7. doi: 10.3390/ijerph19031870

PMCID:: PMC8835098

Article PDF–644K

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 40260003.

Ehlers-Danlos Arthrochalasia type (VIIA-B) – expanding the phenotype: from prenatal life through adulthood

M. Klaassens, E. Reinstein, Y. Hilhorst-Hofstee, J.J.P. Schrander, F. Malfait, H. Staal, L.C. ten Have, J. Blaauw, H.C.J. Roggeveen, D. Krakow, A. De Paepe, M.A.M. van Steensel, G. Pals, J. M. Graham, Jr., C.T.R.M. Schrander-Stumpel

Clin Genet. Author manuscript; available in PMC 2014 May 19.

Published in final edited form as: Clin Genet. 2012 Aug; 82(2): 121–130. Published online 2011 Aug 24. doi: 10.1111/j.1399-0004.2011.01758.x

PMCID:: PMC4026000

Article PDF–939K

Select item 35458524.

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

Daniela Melis, Gerarda Cappuccio, Virginia Maria Ginocchio, Giorgia Minopoli, Maurizia Valli, Massimiliano Corradi, Generoso Andria

Ital J Pediatr. 2012; 38: 65. Published online 2012 Nov 16. doi: 10.1186/1824-7288-38-65

PMCID:: PMC3545852

Article PDF–770K

Select item 16839265.

Processing of types I and III procollagen in Ehlers-Danlos syndrome type VII.

R Halila, B Steinmann, L Peltonen

Am J Hum Genet. 1986 Aug; 39(2): 222–231.

PMCID:: PMC1683926

Article PDF–1.0M

Select item 16832976.

Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.

M D'Alessio, F Ramirez, B D Blumberg, M K Wirtz, V H Rao, M D Godfrey, D W Hollister

Am J Hum Genet. 1991 Aug; 49(2): 400–406.

PMCID:: PMC1683297

Article PDF–1.3M

Select item 16830367.

A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.

N S Vasan, H Kuivaniemi, B E Vogel, R R Minor, J A Wootton, G Tromp, R Weksberg, D J Prockop

Am J Hum Genet. 1991 Feb; 48(2): 305–317.

PMCID:: PMC1683036

Article PDF–2.7M

Select item 16826888.

Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.

L T Smith, W Wertelecki, L M Milstone, E M Petty, M R Seashore, I M Braverman, T G Jenkins, P H Byers

Am J Hum Genet. 1992 Aug; 51(2): 235–244.

PMCID:: PMC1682688

Article PDF–3.6M

Select item 13779299.

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

A Colige, A L Sieron, S W Li, U Schwarze, E Petty, W Wertelecki, W Wilcox, D Krakow, D H Cohn, W Reardon, P H Byers, C M Lapière, D J Prockop, B V Nusgens

Am J Hum Genet. 1999 Aug; 65(2): 308–317. doi: 10.1086/302504