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.
Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
Clin Genet
; 106(1): 102-108, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38558253
3.
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
4.
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
5.
Fertility and pregnancy outcomes in women with nonclassic 21-hydroxylase deficiency.
Clin Endocrinol (Oxf)
; 98(3): 315-322, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36325983
6.
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
7.
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
8.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Ann Neurol
; 88(2): 332-347, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32403198
9.
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
10.
TP63-truncating variants cause isolated premature ovarian insufficiency.
Hum Mutat
; 40(7): 886-892, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30924587
11.
Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.
J Assist Reprod Genet
; 36(1): 39-45, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30406445
12.
Surgery is not superior to dilation for the management of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome: a multicenter comparative observational study in 131 patients.
Am J Obstet Gynecol
; 219(3): 281.e1-281.e9, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30036500
13.
Long-term outcome of ovarian function in women with intermittent premature ovarian insufficiency.
Clin Endocrinol (Oxf)
; 86(2): 223-228, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27177971
14.
Sperm cryopreservation in young males with congenital adrenal hyperplasia (CAH).
Clin Endocrinol (Oxf)
; 97(6): 860-862, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35746828
15.
Prevalence of and Risk Factors for Anal Oncogenic Human Papillomavirus Infection Among HIV-Infected Women in France in the Combination Antiretroviral Therapy Era.
J Infect Dis
; 213(9): 1455-61, 2016 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26690345
16.
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
Hum Mutat
; 37(12): 1354-1362, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27650058
17.
Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.
Hum Reprod
; 31(4): 782-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26874361
18.
Hypogonadism as a Reversible Cause of Torsades de Pointes in Men.
Circulation
; 138(1): 110-113, 2018 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967236
19.
Post-transplant outcome of ovarian tissue cryopreserved after chemotherapy in hematologic malignancies.
Haematologica
; 104(8): e360-e363, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30765476
20.
Paul Kelly, PhD (1943-2018).
Pituitary
; 22(1): 1-3, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30632073