Detalhe da pesquisa
1.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A
; 194(4): e63476, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974505
2.
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
J Inherit Metab Dis
; 47(2): 255-269, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38012812
3.
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Eur J Neurol
; 30(7): 2001-2011, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943151
4.
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Clin Genet
; 101(5-6): 494-506, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170016
5.
[The night health manager, an essential link in the continuity of care]. / Le cadre de santé de nuit, un maillon indispensable à la continuité des soins.
Rev Infirm
; 71(280): 20-21, 2022 Apr.
Artigo
em Francês
| MEDLINE | ID: mdl-35550091
6.
Amniotic fluid peptides predict postnatal kidney survival in developmental kidney disease.
Kidney Int
; 99(3): 737-749, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32750455
7.
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Clin Genet
; 99(3): 407-417, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33277917
8.
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Clin Genet
; 98(3): 261-273, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32621347
9.
Functional classification of ATM variants in ataxia-telangiectasia patients.
Hum Mutat
; 40(10): 1713-1730, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31050087
10.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Am J Hum Genet
; 98(5): 981-992, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108798
11.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942287
12.
Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study.
Dis Colon Rectum
; 62(4): 470-475, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30640315
13.
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Prenat Diagn
; 39(6): 464-470, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30896039
14.
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
J Med Genet
; 55(6): 359-371, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618507
15.
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Hum Mutat
; 37(12): 1329-1339, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27363716
16.
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Genet Med
; 18(1): 49-56, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25790162
17.
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
Am J Med Genet A
; 170A(1): 116-29, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420639
18.
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.
Neurobiol Dis
; 80: 80-92, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26007637
19.
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
Am J Med Genet A
; 167A(12): 3046-53, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26385851
20.
Creatine and guanidinoacetate reference values in a French population.
Mol Genet Metab
; 110(3): 263-7, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24090707