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American Journal of Human Genetics|May 11, 2006
Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genesCapucine Delnatte, Damien Sanlaville, Jean-Francois Mougenot, et al.
Journal of Medical Genetics|December 15, 2011
CHRNG genotype-phenotype correlations in the multiple pterygium syndromesJulie Vogt, Neil V Morgan, Pauline Rehal, et al.
American Journal of Human Genetics|January 9, 2008
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16Irina Balikova, Kevin Martens, Cindy Melotte, et al.
The Journal of Clinical Endocrinology and Metabolism|April 9, 2010
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1Barbara D'haene, Jan Hellemans, Margarita Craen, et al.
American Journal of Human Genetics|May 27, 2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationKristine Freude, Kirsten Hoffmann, Lars-Riff Jensen, et al.
American Journal of Medical Genetics. Part A|September 12, 2015
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?Karl Hackmann, Andreas Rump, Stefan A Haas, et al.
Human Molecular Genetics|October 14, 2006
Sesn1 is a novel gene for left-right asymmetry and mediating nodal signalingHilde Peeters, Marianne L Voz, Kristin Verschueren, et al.
Human Mutation|May 12, 2007
Subtelomeric imbalances in phenotypically normal individualsIrina Balikova, Björn Menten, Thomy de Ravel, et al.
International Journal of Cardiology|September 23, 2011
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAADMarjolijn Renard, Bert Callewaert, Machteld Baetens, et al.
American Journal of Human Genetics|July 11, 2006
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndromeTjitske Kleefstra, Han G Brunner, Jeanne Amiel, et al.
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