PMC Articles for MedGen (Select 929458) - PMC

Select item 95557671.

Collagen (I) homotrimer potentiates the osteogenesis imperfecta (oim) mutant allele and reduces survival in male mice

Katie J. Lee, Lisa Rambault, George Bou-Gharios, Peter D. Clegg, Riaz Akhtar, Gabriela Czanner, Rob van ‘t Hof, Elizabeth G. Canty-Laird

Dis Model Mech. 2022 Sep 1; 15(9): dmm049428. Published online 2022 Sep 28. doi: 10.1242/dmm.049428

PMCID:: PMC9555767

Article

Select item 95456372.

Clinical and molecular features of patients with COL1‐related disorders: Implications for the wider spectrum and the risk of vascular complications

Ryojun Takeda, Tomomi Yamaguchi, Shujiro Hayashi, Shinichirou Sano, Hiroshi Kawame, Sachiko Kanki, Takeshi Taketani, Hidekane Yoshimura, Yukio Nakamura, Tomoki Kosho

Am J Med Genet A. 2022 Sep; 188(9): 2560–2575. Published online 2022 Jul 13. doi: 10.1002/ajmg.a.62887

PMCID:: PMC9545637

Article PDF–3.4M

Select item 83836923.

Hyperdynamic Valve: A Rare Case of Ehlers-Danlos Syndrome

Sofia Xavier Pires, Gabriela Pereira, David Paiva, Filipa Cordeiro, Magda Fernandes, Jorge Cotter

J Med Cases. 2021 Jul; 12(7): 284–287. Published online 2021 May 13. doi: 10.14740/jmc3692

PMCID:: PMC8383692

Article PDF–1.6M

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 25645655.

Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers‐Danlos syndrome with hypermobility and propensity to cardiac valvular problems

F Malfait, S Symoens, P Coucke, L Nunes, S De Almeida, A De Paepe

J Med Genet. 2006 Jul; 43(7): e36. doi: 10.1136/jmg.2005.038224

PMCID:: PMC2564565

Article PDF–593K

Select item 11819856.

Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway

Ulrike Schwarze, Ryu-Ichiro Hata, Victor A. McKusick, Hiroshi Shinkai, H. Eugene Hoyme, Reed E. Pyeritz, Peter H. Byers

Am J Hum Genet. 2004 May; 74(5): 917–930. Published online 2004 Apr 9. doi: 10.1086/420794

PMCID:: PMC1181985

Article PDF–441K

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