Detalhe da pesquisa
1.
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency.
Clin Genet
; 2024 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38779778
2.
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Hum Genet
; 142(7): 879-907, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37148394
3.
FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.
Clin Genet
; 103(3): 277-287, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36349847
4.
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.
Hum Mutat
; 43(10): 1443-1453, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35801529
5.
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Hum Genet
; 139(10): 1325-1343, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32399598
6.
miR-322 stabilizes MEK1 expression to inhibit RAF/MEK/ERK pathway activation in cartilage.
Development
; 144(19): 3562-3577, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28851708
7.
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Mol Hum Reprod
; 26(9): 665-677, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32634216
8.
Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.
J Med Genet
; 56(7): 434-443, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018998
9.
TP63-truncating variants cause isolated premature ovarian insufficiency.
Hum Mutat
; 40(7): 886-892, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30924587
10.
NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.
Hum Mutat
; 40(2): 207-216, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30350900
11.
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Hum Mutat
; 39(1): 124-139, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29027299
12.
Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys.
Hum Genomics
; 11(1): 1, 2017 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28209183
13.
miR-126-3p Promotes Matrix-Dependent Perivascular Cell Attachment, Migration and Intercellular Interaction.
Stem Cells
; 34(5): 1297-309, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26934179
14.
A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model.
Genes (Basel)
; 15(3)2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540391
15.
Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC lines.
Stem Cell Res
; 76: 103374, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458031
16.
Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.
Mol Cell Endocrinol
; 587: 112212, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38521400
17.
The proto-oncogene Ret is required for male foetal germ cell survival.
Dev Biol
; 365(1): 101-9, 2012 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22360967
18.
Genetic Variants in SRD5A2 in a Spectrum of DSD Patients from Australian Clinics Highlight Importance of Genetic Testing alongside Typical First-Line Investigations.
Sex Dev
; 17(1): 8-15, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724755
19.
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Nat Commun
; 14(1): 3403, 2023 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37296101
20.
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency.
Genes (Basel)
; 13(11)2022 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36421788