Detalhe da pesquisa
1.
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
J Med Genet
; 59(6): 559-567, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33820833
2.
Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case report.
Am J Med Genet A
; 188(12): 3550-3554, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36129367
3.
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.
Brain
; 144(9): 2616-2624, 2021 10 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34270682
4.
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Hum Mutat
; 41(5): 926-933, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32058622
5.
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.
Genet Med
; 22(11): 1887-1891, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32565546
6.
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Clin Genet
; 98(3): 261-273, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32621347
7.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
; 61(6): 1142-1155, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32452540
8.
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Brain
; 141(3): 698-712, 2018 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29365063
9.
Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease.
Hum Mutat
; 38(1): 43-47, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27667122
10.
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
11.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Hum Mol Genet
; 23(9): 2279-89, 2014 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24319099
12.
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Genet Med
; 18(1): 49-56, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25790162
13.
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
J Med Genet
; 50(4): 255-63, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23335809
14.
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Am J Hum Genet
; 87(2): 189-98, 2010 Aug 13.
Artigo
Inglês
| MEDLINE | ID: mdl-20673863
15.
Sirenomelia and caudal malformations in two families.
Am J Med Genet A
; 158A(7): 1801-7, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22522670
16.
Severe Phenotype in Patients with Large Deletions of NF1.
Cancers (Basel)
; 13(12)2021 Jun 13.
Artigo
Inglês
| MEDLINE | ID: mdl-34199217
17.
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
Eur J Hum Genet
; 28(6): 770-782, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32005960
18.
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
Hum Mutat
; 30(2): E320-9, 2009 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19023858
19.
A novel insertion (c.1098dupT) in the albumin gene causes analbuminemia in a consanguineous family.
Eur J Med Genet
; 62(2): 144-148, 2019 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-29981851
20.
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
Inglês
| MEDLINE | ID: mdl-31829210