Detalhe da pesquisa
1.
WNT11, a new gene associated with early onset osteoporosis, is required for osteoblastogenesis.
Hum Mol Genet
; 31(10): 1622-1634, 2022 05 19.
Artigo
Inglês
| MEDLINE | ID: mdl-34875064
2.
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
Hum Genet
; 143(5): 683-694, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38592547
3.
Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report.
Clin Genet
; 105(6): 666-670, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38385987
4.
Growth charts in DYRK1A syndrome.
Am J Med Genet A
; 194(1): 9-16, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37740550
5.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain
; 2023 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38038360
6.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35027293
7.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35579625
8.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32732226
9.
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Int J Mol Sci
; 23(3)2022 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35163737
10.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34345024
11.
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
Clin Genet
; 99(5): 732-739, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33506510
12.
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
Inglês
| MEDLINE | ID: mdl-33131162
13.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Genet Med
; 22(1): 181-188, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31363182
14.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31876365
15.
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
J Med Genet
; 56(9): 590-601, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31010831
16.
Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Hum Genet
; 138(4): 363-374, 2019 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-30838450
17.
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Genet Med
; 21(7): 1667-1671, 2019 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-30783266
18.
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Genet Med
; 21(6): 1308-1318, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30356099
19.
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
J Med Genet
; 55(6): 422-429, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29459493
20.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36745127