Detalhe da pesquisa
1.
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Clin Genet
; 2024 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38561231
2.
Systemic primary carnitine deficiency induces severe arrhythmia due to shortening of QT interval.
Mol Genet Metab
; 140(4): 107733, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37979236
3.
Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.
Hum Reprod
; 37(12): 2952-2959, 2022 11 24.
Artigo
Inglês
| MEDLINE | ID: mdl-36331510
4.
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
Clin Genet
; 99(5): 650-661, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33415748
5.
Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
Am J Med Genet A
; 185(12): 3877-3883, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34357686
6.
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.
Hum Mutat
; 41(1): 222-239, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31502745
7.
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Hum Mutat
; 41(1): 17-37, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31448844
8.
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
Clin Genet
; 98(1): 10-18, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32233106
9.
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.
Haematologica
; 104(8): 1554-1564, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30655378
10.
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.
Genet Med
; 20(12): 1589-1599, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29790873
11.
Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.
Mol Genet Metab
; 123(4): 463-471, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29478817
12.
HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients.
Neuropediatrics
; 49(6): 373-378, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30114719
13.
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
J Med Genet
; 54(12): 843-851, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28954837
14.
Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review.
Am J Med Genet A
; 173(11): 2923-2946, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28948695
15.
New intragenic rearrangements in non-Finnish mulibrey nanism.
Am J Med Genet A
; 173(10): 2782-2788, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28815877
16.
DNA methylation of channel-related genes in cancers.
Biochim Biophys Acta
; 1848(10 Pt B): 2621-8, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25703813
17.
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
Hum Mutat
; 36(8): 743-52, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-25907713
18.
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Hum Mol Genet
; 22(25): 5121-35, 2013 Dec 20.
Artigo
Inglês
| MEDLINE | ID: mdl-23906836
19.
Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.
Am J Med Genet A
; 167A(3): 504-11, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25572454
20.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
J Med Genet
; 51(11): 724-36, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25167861