Encha-Razavi F - Search Results

1

JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome.

Crosnier C, Attié-Bitach T, Encha-Razavi F, Audollent S, Soudy F, Hadchouel M, Meunier-Rotival M, Vekemans M. Crosnier C, et al. Hepatology. 2000 Sep;32(3):574-81. doi: 10.1053/jhep.2000.16600. Hepatology. 2000. PMID: 10960452

2

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.

3

Expression of the sonic hedgehog gene in human embryos with neural tube defects.

Kirillova I, Novikova I, Augé J, Audollent S, Esnault D, Encha-Razavi F, Lazjuk G, Attié-Bitach T, Vekemans M. Kirillova I, et al. Teratology. 2000 May;61(5):347-54. doi: 10.1002/(SICI)1096-9926(200005)61:5<347::AID-TERA6>3.0.CO;2-#. Teratology. 2000. PMID: 10777830

4

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

5

[Craniofacial development: morphogenesis and determinism].

Attié-Bitach T, Vekemans M, Encha-Razavi F. Attié-Bitach T, et al. Arch Pediatr. 2001 May;8 Suppl 2:390s-392s. doi: 10.1016/s0929-693x(01)80086-5. Arch Pediatr. 2001. PMID: 11394128 French. No abstract available.

6

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.

7

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation.

Molinari F, Rio M, Meskenaite V, Encha-Razavi F, Augé J, Bacq D, Briault S, Vekemans M, Munnich A, Attié-Bitach T, Sonderegger P, Colleaux L. Molinari F, et al. Science. 2002 Nov 29;298(5599):1779-81. doi: 10.1126/science.1076521. Science. 2002. PMID: 12459588

8

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum.

Espinosa-Parrilla Y, Encha-Razavi F, Attié-Bitach T, Martinovic J, Morichon-Delvallez N, Munnich A, Vekemans M, Lyonnet S, Amiel J. Espinosa-Parrilla Y, et al. Prenat Diagn. 2004 Apr;24(4):298-301. doi: 10.1002/pd.865. Prenat Diagn. 2004. PMID: 15065106

9

Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development.

Sobrier ML, Attié-Bitach T, Netchine I, Encha-Razavi F, Vekemans M, Amselem S. Sobrier ML, et al. Gene Expr Patterns. 2004 Dec;5(2):279-84. doi: 10.1016/j.modgep.2004.07.003. Gene Expr Patterns. 2004. PMID: 15567726

10

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.

Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L. Molinari F, et al. Am J Hum Genet. 2005 Feb;76(2):334-9. doi: 10.1086/427564. Epub 2004 Dec 8. Am J Hum Genet. 2005. PMID: 15592994 Free PMC article.

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