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.
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
3.
TP63-truncating variants cause isolated premature ovarian insufficiency.
Hum Mutat
; 40(7): 886-892, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30924587
4.
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
5.
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
6.
Family building after diagnosis of premature ovarian insufficiency: a cross-sectional survey in 324 women.
Eur J Endocrinol
; 188(3)2023 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36763040
7.
Classical and non-classical congenital adrenal hyperplasia: What is the difference in subsequent fertility?
Ann Endocrinol (Paris)
; 83(3): 181-185, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35489415
8.
Whole exome sequencing reveals copy number variants in individuals with disorders of sex development.
Mol Cell Endocrinol
; 546: 111570, 2022 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051551
9.
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
10.
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
Eur J Hum Genet
; 30(2): 219-228, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34707299
11.
Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective series of five patients.
Eur J Endocrinol
; 184(3): 365-371, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33444225
12.
Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases.
Orphanet J Rare Dis
; 16(1): 469, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34736502
13.
Early central blood pressure elevation in adult patients with 21-hydroxylase deficiency.
J Hypertens
; 37(1): 175-181, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30036269
14.
Classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults.
Horm Res
; 69(4): 203-11, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18204267
15.
A common African variant of human connexin 37 is associated with Caucasian primary ovarian insufficiency and has a deleterious effect in vitro.
Int J Mol Med
; 41(2): 640-648, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29207017
16.
MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment.
Eur J Endocrinol
; 176(4): R167-R181, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28115464
17.
MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.
J Clin Endocrinol Metab
; 102(2): 576-582, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27802094
18.
Poor Compliance to Hormone Therapy and Decreased Bone Mineral Density in Women with Premature Ovarian Insufficiency.
PLoS One
; 11(12): e0164638, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27906970
19.
Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia.
Eur J Endocrinol
; 173(2): 175-84, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25947139
20.
NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency.
J Clin Endocrinol Metab
; 98(5): E1017-21, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23543655