Encha-Razavi F - Search Results

1

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.

Baala L, Briault S, Etchevers HC, Laumonnier F, Natiq A, Amiel J, Boddaert N, Picard C, Sbiti A, Asermouh A, Attié-Bitach T, Encha-Razavi F, Munnich A, Sefiani A, Lyonnet S. Baala L, et al. Nat Genet. 2007 Apr;39(4):454-6. doi: 10.1038/ng1993. Epub 2007 Mar 11. Nat Genet. 2007. PMID: 17353897

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 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

4

[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.

5

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.

6

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

7

Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different.

Viot G, Sonigo P, Simon I, Simon-Bouy B, Chadeyron F, Beldjord C, Tantau J, Martinovic J, Esculpavit C, Brunelle F, Munnich A, Vekemans M, Encha-Razavi F. Viot G, et al. Am J Med Genet A. 2004 Apr 15;126A(2):123-8. doi: 10.1002/ajmg.a.20569. Am J Med Genet A. 2004. PMID: 15057976

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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