Detalhe da pesquisa
1.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071997
2.
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Am J Hum Genet
; 109(5): 944-952, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35358416
3.
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
4.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
; 60(10): 999-1005, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185208
5.
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
6.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hum Mutat
; 41(12): 2167-2178, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131162
7.
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.
Genet Med
; 22(4): 797-802, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31776469
8.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Genet Med
; 22(1): 181-188, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363182
9.
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
Clin Genet
; 98(1): 43-55, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32279304
10.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
; 61(6): 1142-1155, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32452540
11.
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD).
Genet Med
; 21(9): 2015-2024, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30739908
12.
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.
Clin Genet
; 95(3): 420-426, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30633342
13.
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.
J Med Genet
; 54(2): 100-103, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27582083
14.
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
em Inglês
| MEDLINE | ID: mdl-29178447
15.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Hum Genet
; 136(4): 463-479, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283832
16.
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
J Pediatr
; 185: 160-166.e1, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28284480
17.
Atypical late diagnosis of Noonan syndrome revealed by bleedings due to platelet dysfunction.
J Thromb Thrombolysis
; 53(2): 557-560, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34368936
18.
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
19.
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
20.
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
J Hum Genet
; 61(8): 693-9, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27193221