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Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
Gardner JF, Cushion TD, Niotakis G, Olson HE, Grant PE, Scott RH, Stoodley N, Cohen JS, Naidu S, Attie-Bitach T, Bonnières M, Boutaud L, Encha-Razavi F, Palmer-Smith SM, Mugalaasi H, Mullins JGL, Pilz DT, Fry AE. Gardner JF, et al. Brain Sci. 2018 Aug 7;8(8):145. doi: 10.3390/brainsci8080145. Brain Sci. 2018. PMID: 30087272 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
[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.
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.
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.
Matthew-Wood syndrome: report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2.
Martinovic-Bouriel J, Bernabé-Dupont C, Golzio C, Grattagliano-Bessières B, Malan V, Bonnière M, Esculpavit C, Fallet-Bianco C, Mirlesse V, Le Bidois J, Aubry MC, Vekemans M, Morichon N, Etchevers H, Attié-Bitach T, Encha-Razavi F, Benachi A. Martinovic-Bouriel J, et al. Am J Med Genet A. 2007 Feb 1;143A(3):219-28. doi: 10.1002/ajmg.a.31599. Am J Med Genet A. 2007. PMID: 17236193
226 results