Detalhe da pesquisa
1.
Prenatal diagnosis of microcephaly with simplified gyral pattern: series of eight cases.
Ultrasound Obstet Gynecol
; 63(2): 271-275, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551048
2.
Two different prenatal imaging cerebral patterns of tubulinopathy.
Ultrasound Obstet Gynecol
; 57(3): 493-497, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32149430
3.
Deciphering the natural history of SCA7 in children.
Eur J Neurol
; 27(11): 2267-2276, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32558018
4.
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
Neurogenetics
; 19(2): 93-103, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29511999
5.
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
Clin Genet
; 94(1): 141-152, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29574747
6.
Statistical method to compare massive parallel sequencing pipelines.
BMC Bioinformatics
; 18(1): 139, 2017 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28249565
7.
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
Clin Genet
; 89(2): 198-204, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26138355
8.
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Clin Genet
; 90(6): 550-555, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27040866
9.
Epilepsy genetics: the ongoing revolution.
Rev Neurol (Paris)
; 171(6-7): 539-57, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26003806
10.
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
Eur J Med Genet
; 68: 104919, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355093
11.
[Family impact of FXTAS diagnosis: genetic counseling for at-risk relatives]. / Conséquences familiales du diagnostic de FXTAS: le conseil génétique aux apparentés à risque.
Rev Neurol (Paris)
; 169(6-7): 515-8, 2013.
Artigo
em Francês
| MEDLINE | ID: mdl-23557641
12.
A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease.
Clin Genet
; 92(1): 112-114, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28090630
13.
Publication bias in pharmacogenetics of adverse reaction to antiseizure drugs: An umbrella review and a meta-epidemiological study.
PLoS One
; 17(12): e0278839, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36584134
14.
STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.
Eur J Med Genet
; 65(12): 104636, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36216271
15.
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Clin Epigenetics
; 11(1): 156, 2019 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31685013
16.
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
Neurogenetics
; 9(2): 143-50, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18322712
17.
[Family study allows more optimistic prognosis and genetic counselling in a child with a deletion of exons 50-51 of the dystrophin gene]. / Impact de l'étude familiale sur le pronostic et le conseil génétique chez un enfant porteur d'une délétion des exons 50-51 du gène de la dystrophine.
Arch Pediatr
; 14(3): 262-5, 2007 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-17258443
18.
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
Eur J Med Genet
; 49(1): 9-18, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16473305
19.
[X-linked adrenoleukodystrophy in a female proband: clinical presentation, biological diagnosis and family consequences]. / Adrénoleucodystrophie liée à l'X chez une proposante symptomatique: présentation clinique, diagnostic biologique et conséquences familiales.
Arch Pediatr
; 12(8): 1237-40, 2005 Aug.
Artigo
em Francês
| MEDLINE | ID: mdl-15878823
20.
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.
Parkinsonism Relat Disord
; 21(7): 813-6, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25962551