Encha-Razavi F - Search Results

1

Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.

Valence S, Poirier K, Lebrun N, Saillour Y, Sonigo P, Bessières B, Attié-Bitach T, Benachi A, Masson C, Encha-Razavi F, Chelly J, Bahi-Buisson N. Valence S, et al. Neurogenetics. 2013 Nov;14(3-4):215-24. doi: 10.1007/s10048-013-0373-x. Epub 2013 Sep 27. Neurogenetics. 2013. PMID: 24072599

2

[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.

3

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.

4

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

5

Features of the developing brain.

Encha-Razavi F, Sonigo P. Encha-Razavi F, et al. Childs Nerv Syst. 2003 Aug;19(7-8):426-8. doi: 10.1007/s00381-003-0765-6. Epub 2003 Jun 19. Childs Nerv Syst. 2003. PMID: 12827416 Review.

6

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

7

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

8

Pitfalls of the morphologic approach.

Encha-Razavi F, Chelly J. Encha-Razavi F, et al. J Neuropathol Exp Neurol. 2006 Mar;65(3):302; author reply 302-3. doi: 10.1097/01.jnen.0000223199.72823.27. J Neuropathol Exp Neurol. 2006. PMID: 16651892 No abstract available.

9

Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency.

Kappeler C, Dhenain M, Phan Dinh Tuy F, Saillour Y, Marty S, Fallet-Bianco C, Souville I, Souil E, Pinard JM, Meyer G, Encha-Razavi F, Volk A, Beldjord C, Chelly J, Francis F. Kappeler C, et al. J Comp Neurol. 2007 Jan 10;500(2):239-54. doi: 10.1002/cne.21170. J Comp Neurol. 2007. PMID: 17111359

10

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.

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