Detalhe da pesquisa
1.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31876365
2.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Genet Med
; 21(3): 553-563, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29997391
3.
Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France.
Am J Med Genet A
; 179(11): 2207-2213, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31471951
4.
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
J Med Genet
; 55(3): 205-213, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29223973
5.
Further delineation of Malan syndrome.
Hum Mutat
; 39(9): 1226-1237, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29897170
6.
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Brain
; 140(6): 1579-1594, 2017 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28444220
7.
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Am J Med Genet C Semin Med Genet
; 175(4): 417-430, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29178447
8.
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Hum Mutat
; 37(12): 1329-1339, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27363716
9.
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
Am J Hum Genet
; 93(3): 579-86, 2013 Sep 05.
Artigo
Inglês
| MEDLINE | ID: mdl-24011989
10.
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Am J Hum Genet
; 93(4): 727-34, 2013 Oct 03.
Artigo
Inglês
| MEDLINE | ID: mdl-24035193
11.
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
J Hum Genet
; 61(8): 693-9, 2016 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-27193221
12.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
J Med Genet
; 51(11): 724-36, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25167861
13.
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Nat Genet
; 38(5): 521-4, 2006 May.
Artigo
Inglês
| MEDLINE | ID: mdl-16582908
14.
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
Hum Mutat
; 35(11): 1311-20, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25137640
15.
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
Am J Med Genet A
; 164A(1): 177-81, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24259107
16.
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.
Am J Med Genet A
; 164A(2): 522-7, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24311531
17.
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.
Am J Med Genet A
; 164A(8): 1965-75, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24782328
18.
Combined 1H-NMR and 1H-13C HSQC-NMR to improve urinary screening in autism spectrum disorders.
Analyst
; 139(13): 3460-8, 2014 Jul 07.
Artigo
Inglês
| MEDLINE | ID: mdl-24841505
19.
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Am J Med Genet C Semin Med Genet
; 163C(2): 92-105, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23606591
20.
Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
J Pediatr
; 163(3): 742-6, 2013 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-23535010