PMC Articles for MedGen (Select 1823999) - PMC

Select item 87112981.

Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies

Dena R. Matalon, David A. Stevenson, Elizabeth J. Bhoj, Avni B. Santani, Beth Keena, Meryl S. Cohen, Angela E. Lin, Sarah E. Sheppard, Elaine H. Zackai

Am J Med Genet A. Author manuscript; available in PMC 2022 May 1.

Published in final edited form as: Am J Med Genet A. 2021 May; 185(5): 1486–1493. Published online 2021 Mar 8. doi: 10.1002/ajmg.a.62146

PMCID:: PMC8711298

Abstract Article PDF–267K

Select item 73043602.

A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype

Fatima AbuBakr, Lauren Jeffries, Weizhen Ji, James M. McGrath, Saquib A. Lakhani

Cold Spring Harb Mol Case Stud. 2020 Jun; 6(3): a005207. doi: 10.1101/mcs.a005207

PMCID:: PMC7304360

Abstract Article PDF–2.2M

Select item 44139373.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

Slimane Allali, Carine Le Goff, Isabelle PressaceDiebold, Gwendoline Pfennig, Clémentine Mahaut, Nathalie Dagoneau, Yasemin Alanay, Angela F Brady, Yanick J Crow, Koen Devriendt, Valérie Drouin-Garraud, Elisabeth Flori, David Geneviève, Raoul C Hennekam, Jane Hurst, Deborah Krakow, Martine Le Merrer, Klaske D Lichtenbelt, Sally A Lynch, Stanislas Lyonnet, Kay MacDermot, Sahar Mansour, André Megarbané, Heloisa G Santos, Miranda Splitt, Andrea Superti-Furga, Sheila Unger, Denise Williams, Arnold Munnich, Valérie Cormier-Daire

J Med Genet. Author manuscript; available in PMC 2015 Apr 29.

Published in final edited form as: J Med Genet. 2011 Jun; 48(6): 417–421. Published online 2011 Mar 17. doi: 10.1136/jmg.2010.087544

PMCID:: PMC4413937

Abstract Article PDF–436K

Select item 34442354.

Developmental basis for filamin-A-associated myxomatous mitral valve disease

Kimberly Sauls, Annemarieke de Vlaming, Brett S. Harris, Katherine Williams, Andy Wessels, Robert A. Levine, Susan A. Slaugenhaupt, Richard L. Goodwin, Luigi Michele Pavone, Jean Merot, Jean-Jacques Schott, Thierry Le Tourneau, Thomas Dix, Sean Jesinkey, Yuanyi Feng, Christopher Walsh, Bin Zhou, Scott Baldwin, Roger R. Markwald, Russell A. Norris

Cardiovasc Res. 2012 Oct 1; 96(1): 109–119. Published online 2012 Jul 25. doi: 10.1093/cvr/cvs238

PMCID:: PMC3444235

Abstract Article PDF–966K

Select item 26756135.

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

Carine Le Goff, Fanny Morice-Picard, Nathalie Dagoneau, Lauren W Wang, Claire Perrot, Yanick J Crow, Florence Bauer, Elisabeth Flori, Catherine Prost-Squarcioni, Deborah Krakow, Gaoxiang Ge, Daniel S Greenspan, Damien Bonnet, Martine Le Merrer, Arnold Munnich, Suneel S Apte, Valérie Cormier-Daire

Nat Genet. Author manuscript; available in PMC 2009 Apr 30.

Published in final edited form as: Nat Genet. 2008 Sep; 40(9): 1119–1123. doi: 10.1038/ng.199

PMCID:: PMC2675613

Abstract Article PDF–344K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 5

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity