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Page 1
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Cavallin M, Rujano MA, Bednarek N, Medina-Cano D, Bernabe Gelot A, Drunat S, Maillard C, Garfa-Traore M, Bole C, Nitschké P, Beneteau C, Besnard T, Cogné B, Eveillard M, Kuster A, Poirier K, Verloes A, Martinovic J, Bidat L, Rio M, Lyonnet S, Reilly ML, Boddaert N, Jenneson-Liver M, Motte J, Doco-Fenzy M, Chelly J, Attie-Bitach T, Simons M, Cantagrel V, Passemard S, Baffet A, Thomas S, Bahi-Buisson N. Cavallin M, et al. Brain. 2017 Oct 1;140(10):2597-2609. doi: 10.1093/brain/awx218. Brain. 2017. PMID: 28969387
PAX2 mutations in oligomeganephronia.
Salomon R, Tellier AL, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler MC, Broyer M. Salomon R, et al. Kidney Int. 2001 Feb;59(2):457-62. doi: 10.1046/j.1523-1755.2001.059002457.x. Kidney Int. 2001. PMID: 11168927 Free article.
Expression of the SMADIP1 gene during early human development.
Espinosa-Parrilla Y, Amiel J, Augé J, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T. Espinosa-Parrilla Y, et al. Mech Dev. 2002 Jun;114(1-2):187-91. doi: 10.1016/s0925-4773(02)00062-x. Mech Dev. 2002. PMID: 12175509 Free article.
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T. Sanlaville D, et al. J Med Genet. 2006 Mar;43(3):211-217. doi: 10.1136/jmg.2005.036160. Epub 2005 Sep 16. J Med Genet. 2006. PMID: 16169932 Free PMC article.
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T. Baala L, et al. Am J Hum Genet. 2007 Jan;80(1):186-94. doi: 10.1086/510499. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160906 Free PMC article.
240 results