Gomot M - Search Results

1

TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment.

Gomot M, Ronce N, Dessay S, Zemni R, Ayrault AD, Moizard MP, Nivelon A, Gilgenkrantz S, Dourlens J, Des Portes V, Chelly J, Moraine C. Gomot M, et al. Am J Med Genet. 2002 Nov 1;112(4):400-4. doi: 10.1002/ajmg.10564. Am J Med Genet. 2002. PMID: 12376945

2

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.

Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A. Meloni I, et al. Among authors: gomot m. Nat Genet. 2002 Apr;30(4):436-40. doi: 10.1038/ng857. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889465

3

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J. Bienvenu T, et al. Among authors: gomot m. Hum Mol Genet. 2002 Apr 15;11(8):981-91. doi: 10.1093/hmg/11.8.981. Hum Mol Genet. 2002. PMID: 11971879

4

Neuro-cognitive and behavioural aspects in non-specific mental retardation. A proposal for phenotyping new XLMR genes.

Borghgraef M, Sacco S, Gomot M, De Vos B, Jacobs A, Buret V, Desportes V. Borghgraef M, et al. Among authors: gomot m. Genet Couns. 2002;13(2):195-8. Genet Couns. 2002. PMID: 12150223 No abstract available.

5

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

Gomot M, Gendrot C, Verloes A, Raynaud M, David A, Yntema HG, Dessay S, Kalscheuer V, Frints S, Couvert P, Briault S, Blesson S, Toutain A, Chelly J, Desportes V, Moraine C. Gomot M, et al. Am J Med Genet A. 2003 Dec 1;123A(2):129-39. doi: 10.1002/ajmg.a.20247. Am J Med Genet A. 2003. PMID: 14598336

6

Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.

des Portes V, Boddaert N, Sacco S, Briault S, Maincent K, Bahi N, Gomot M, Ronce N, Bursztyn J, Adamsbaum C, Zilbovicius M, Chelly J, Moraine C. des Portes V, et al. Among authors: gomot m. Am J Med Genet A. 2004 Feb 1;124A(4):364-71. doi: 10.1002/ajmg.a.20422. Am J Med Genet A. 2004. PMID: 14735583

7

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, Raynaud M, Ronce N, Lemonnier E, Calvas P, Laudier B, Chelly J, Fryns JP, Ropers HH, Hamel BC, Andres C, Barthélémy C, Moraine C, Briault S. Laumonnier F, et al. Among authors: gomot m. Am J Hum Genet. 2004 Mar;74(3):552-7. doi: 10.1086/382137. Epub 2004 Feb 12. Am J Hum Genet. 2004. PMID: 14963808 Free PMC article.

8

Could autism with mental retardation result from digenism and frequent de novo mutations?

Moraine C, Bonnet-Brilhault F, Laumonnier F, Gomot M. Moraine C, et al. Among authors: gomot m. World J Biol Psychiatry. 2009;10(4 Pt 3):1030-6. doi: 10.1080/15622970802627455. World J Biol Psychiatry. 2009. PMID: 19160128 Review.

9

22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.

Ponson L, Gomot M, Blanc R, Barthelemy C, Roux S, Munnich A, Romana S, Aguillon-Hernandez N, Malan V, Bonnet-Brilhault F. Ponson L, et al. Among authors: gomot m. Transl Psychiatry. 2018 Aug 8;8(1):146. doi: 10.1038/s41398-018-0212-9. Transl Psychiatry. 2018. PMID: 30089781 Free PMC article.

10

Hypersensitivity to acoustic change in children with autism: electrophysiological evidence of left frontal cortex dysfunctioning.

Gomot M, Giard MH, Adrien JL, Barthelemy C, Bruneau N. Gomot M, et al. Psychophysiology. 2002 Sep;39(5):577-84. Psychophysiology. 2002. PMID: 12236323 Clinical Trial.

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