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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T. Putoux A, et al. Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8. Nat Genet. 2011. PMID: 21552264 Free PMC article.
Expression of the RET proto-oncogene in human embryos.
Attié-Bitach T, Abitbol M, Gérard M, Delezoide AL, Augé J, Pelet A, Amiel J, Pachnis V, Munnich A, Lyonnet S, Vekemans M. Attié-Bitach T, et al. Am J Med Genet. 1998 Dec 28;80(5):481-6. doi: 10.1002/(sici)1096-8628(19981228)80:5<481::aid-ajmg8>3.0.co;2-6. Am J Med Genet. 1998. PMID: 9880212
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.
Touraine RL, Attié-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F, Pelet A, Augé J, Nivelon-Chevallier A, Holschneider AM, Munnes M, Doerfler W, Goossens M, Munnich A, Vekemans M, Lyonnet S. Touraine RL, et al. Am J Hum Genet. 2000 May;66(5):1496-503. doi: 10.1086/302895. Epub 2000 Apr 4. Am J Hum Genet. 2000. PMID: 10762540 Free PMC article.
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.
Tellier AL, Amiel J, Delezoide AL, Audollent S, Augé J, Esnault D, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T. Tellier AL, et al. Am J Med Genet. 2000 Jul 17;93(2):85-8. doi: 10.1002/1096-8628(20000717)93:2<85::aid-ajmg1>3.0.co;2-b. Am J Med Genet. 2000. PMID: 10869107
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.
224 results