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19 results
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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. Among authors: ozilou c. 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.
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. Among authors: ozilou c. 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.
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.
Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L. Rio M, et al. Among authors: ozilou c. J Med Genet. 2002 Apr;39(4):266-70. doi: 10.1136/jmg.39.4.266. J Med Genet. 2002. PMID: 11950856 Free PMC article.
A CGH study of 27 patients with CHARGE association.
Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M. Sanlaville D, et al. Among authors: ozilou c. Clin Genet. 2002 Feb;61(2):135-8. doi: 10.1034/j.1399-0004.2002.610208.x. Clin Genet. 2002. PMID: 11940088
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.
Colleaux L, Rio M, Heuertz S, Moindrault S, Turleau C, Ozilou C, Gosset P, Raoult O, Lyonnet S, Cormier-Daire V, Amiel J, Le Merrer M, Picq M, de Blois MC, Prieur M, Romana S, Cornelis F, Vekemans M, Munnich A. Colleaux L, et al. Among authors: ozilou c. Eur J Hum Genet. 2001 May;9(5):319-27. doi: 10.1038/sj.ejhg.5200591. Eur J Hum Genet. 2001. PMID: 11378819
19 results