Detalhe da pesquisa
1.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
J Med Genet
; 61(2): 103-108, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37879892
2.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; : e63531, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
3.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
; 60(10): 999-1005, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185208
4.
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Am J Med Genet A
; 191(1): 52-63, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196855
5.
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Am J Med Genet A
; 191(2): 445-458, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369750
6.
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Prenat Diagn
; 43(6): 746-755, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173814
7.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet
; 59(4): 377-384, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33737400
8.
Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.
Am J Med Genet A
; 185(3): 937-944, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33438842
9.
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
10.
SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.
J Med Genet
; 53(11): 743-751, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27317772
11.
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.
Eur J Med Genet
; 66(10): 104841, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37714374
12.
A large extended family with hyperparathyroidism-jaw tumor syndrome due to deletion of the third exon of CDC73: clinical and molecular features.
Endocrine
; 73(3): 693-701, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999366
13.
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Biology (Basel)
; 9(5)2020 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32455636
14.
Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly.
Cell Rep
; 31(2): 107506, 2020 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32294449
15.
Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Otol Neurotol
; 40(1): 121-129, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30531642
16.
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Orphanet J Rare Dis
; 14(1): 288, 2019 12 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31829210
17.
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.
Eur J Hum Genet
; 24(6): 844-51, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26508576
18.
Report on 3 patients with 12p duplication including GRIN2B.
Eur J Med Genet
; 57(5): 185-94, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24503147