Detalhe da pesquisa
1.
Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.
Hum Mol Genet
; 31(13): 2223-2235, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35134173
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.
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
4.
Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia.
Cytogenet Genome Res
; 162(3): 124-131, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35609520
5.
Genomic testing in premature ovarian insufficiency: proceed with caution.
Biol Reprod
; 107(5): 1155-1158, 2022 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908231
6.
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.
Hum Genet
; 140(12): 1733-1751, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34647195
7.
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
8.
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
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.
Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia.
Cytogenet Genome Res
; 159(4): 201-207, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31865337
11.
22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.
J Hum Genet
; 63(5): 691-698, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29540854
12.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Brain
; 140(6): 1595-1610, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28549128
13.
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Am J Hum Genet
; 94(2): 209-22, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462369
14.
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
PLoS Genet
; 9(12): e1004034, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24385928
15.
Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
Hum Mol Genet
; 22(22): 4460-73, 2013 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23814038
16.
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
17.
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
18.
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.
Eur J Hum Genet
; 31(4): 453-460, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450801
19.
Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.
Hum Mutat
; 33(2): 411-8, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22072591
20.
The Genetics and Biology of FOXL2.
Sex Dev
; 16(2-3): 184-193, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34727551