PMC Articles for MedGen (Select 946158) - PMC

Select item 37498641.

A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome

Zhe Zhang, Joy Norris, Vera Kalscheuer, Tim Wood, Lin Wang, Charles Schwartz, Emil Alexov, Hilde Van Esch

Hum Mol Genet. 2013 Sep 15; 22(18): 3789–3797. Published online 2013 May 21. doi: 10.1093/hmg/ddt229

PMCID:: PMC3749864

Select item 34871252.

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac, Julien Thevenon, Lesley Adès, Bert Callewaert, Sophie Julia, Christel Thauvin-Robinet, Lucie Gueneau, Jean-Benoit Courcet, Estelle Lopez, Katherine Holman, Marjolijn Renard, Henri Plauchu, Ghislaine Plessis, Julie De Backer, Anne Child, Gavin Arno, Laurence Duplomb, Patrick Callier, Bernard Aral, Pierre Vabres, Nadège Gigot, Eloisa Arbustini, Maurizia Grasso, Peter N. Robinson, Cyril Goizet, Clarisse Baumann, Maja Di Rocco, Jaime Sanchez Del Pozo, Frédéric Huet, Guillaume Jondeau, Gwenaëlle Collod-Beroud, Christophe Beroud, Jeanne Amiel, Valérie Cormier-Daire, Jean-Baptiste Rivière, Catherine Boileau, Anne De Paepe, Laurence Faivre

Am J Hum Genet. 2012 Nov 2; 91(5): 950–957. doi: 10.1016/j.ajhg.2012.10.002

PMCID:: PMC3487125

Abstract Article PDF–888K

Select item 26531083.

A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome

L.E. Becerra-Solano, J. Butler, G. Castañeda-Cisneros, D.E. McCloskey, X. Wang, A.E. Pegg, C.E. Schwartz, J. Sánchez-Corona, J.E. García-Ortiz

Am J Med Genet A. Author manuscript; available in PMC 2010 Feb 1.

Published in final edited form as: Am J Med Genet A. 2009 Mar; 149A(3): 328–335. doi: 10.1002/ajmg.a.32641

PMCID:: PMC2653108

Abstract Article PDF–4.4M

Select item 18527374.

Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus

F. Lucy Raymond, Patrick S. Tarpey, Sarah Edkins, Calli Tofts, Sarah O’Meara, Jon Teague, Adam Butler, Claire Stevens, Syd Barthorpe, Gemma Buck, Jennifer Cole, Ed Dicks, Kristian Gray, Kelly Halliday, Katy Hills, Jonathon Hinton, David Jones, Andrew Menzies, Janet Perry, Keiran Raine, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sara Widaa, Uma Mallya, Jenny Moon, Ying Luo, Marie Shaw, Jackie Boyle, Bronwyn Kerr, Gillian Turner, Oliver Quarrell, Trevor Cole, Douglas F. Easton, Richard Wooster, Martin Bobrow, Charles E. Schwartz, Jozef Gecz, Michael R. Stratton, P. Andrew Futreal

Am J Hum Genet. 2007 May; 80(5): 982–987. Published online 2007 Mar 20. doi: 10.1086/513609

PMCID:: PMC1852737

Abstract Article PDF–504K

Select item 15385745.

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)

Griet Van Buggenhout, Jean-Pierre Fryns

Orphanet J Rare Dis. 2006; 1: 26. Published online 2006 Jul 10. doi: 10.1186/1750-1172-1-26

PMCID:: PMC1538574

Abstract Article PDF–293K

Select item 10163706.

Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease.

S V Hodgson, A S Coonar, P J Hanson, S Cottrell, P N Scriven, T Jones, P R Hawley, M L Wilkinson

J Med Genet. 1993 May; 30(5): 369–375. doi: 10.1136/jmg.30.5.369

PMCID:: PMC1016370

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