Detalhe da pesquisa
1.
Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
Clin Genet
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38558253
2.
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
Am J Med Genet A
; 194(4): e63479, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37987117
3.
NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.
J Assist Reprod Genet
; 41(1): 135-146, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921973
4.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109418
5.
Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
Hum Mutat
; 43(8): 1097-1113, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837432
6.
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.
Clin Genet
; 102(6): 517-523, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908153
7.
Non-invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience.
BJOG
; 129(11): 1879-1886, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35486001
8.
A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans.
Nucleic Acids Res
; 48(17): 9804-9821, 2020 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32816001
9.
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Epilepsia
; 62(2): 325-334, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410528
10.
The intellectual disability protein Oligophrenin-1 controls astrocyte morphology and migration.
Glia
; 68(9): 1729-1742, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32073702
11.
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
12.
Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
Pancreatology
; 20(7): 1354-1367, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32948427
13.
Two frequent loss-of-function mutations in Aurora Kinase C gene in Algerian infertile men with macrozoospermia.
Andrologia
; 52(11): e13868, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33118205
14.
De novo deleterious variants that may alter the dopaminergic reward pathway are associated with anorexia nervosa.
Eat Weight Disord
; 25(6): 1643-1650, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31664672
15.
Pitfalls in the interpretation of CFTR variants in the context of incidental findings.
Hum Mutat
; 40(12): 2239-2246, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31350925
16.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 108(6): 1161-1163, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087165
17.
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(4): 837-849, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206421
18.
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Genet Med
; 21(8): 1897-1898, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30279470
19.
Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology.
J Neural Transm (Vienna)
; 126(11): 1505-1511, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388831
20.
New insights in phenomenology and treatment of epilepsy in CDKL5 encephalopathy.
Epilepsy Behav
; 94: 308-311, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30898514