Detalhe da pesquisa
1.
Combining metabolomics and machine learning models as a tool to distinguish non-classic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotropic hormone testing.
Hum Reprod
; 38(2): 266-276, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36427016
2.
Impact of Cushing's syndrome on the gonadotrope axis and testicular functions in men.
Hum Reprod
; 38(12): 2350-2361, 2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37742130
3.
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
Clin Chem
; 68(2): 313-321, 2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34871369
4.
Live birth after in-vitro maturation of oocytes in a patient with specific ovarian insufficiency caused by long-term mitotane treatment for adrenocortical carcinoma.
Reprod Biomed Online
; 44(2): 304-309, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815159
5.
Long-term efficacy and safety of osilodrostat in Cushing's disease: final results from a Phase II study with an optional extension phase (LINC 2).
Pituitary
; 25(6): 959-970, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36219274
6.
Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.
Neuroendocrinology
; 111(1-2): 99-114, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-32074614
7.
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Genet Med
; 22(11): 1759-1767, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32724172
8.
GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty.
Hum Reprod
; 35(10): 2312-2322, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32862222
9.
Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.
Hum Reprod
; 35(4): 939-949, 2020 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32242900
10.
Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology.
Hum Mutat
; 40(1): 25-30, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304577
11.
Growing heart in congenital hypopituitarism treated in adulthood.
Lancet
; 402(10412): 1562-1563, 2023 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37898533
12.
ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure.
Genet Med
; 21(4): 930-938, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30224786
13.
Similarities and differences in the reproductive phenotypes of women with congenital hypogonadotrophic hypogonadism caused by GNRHR mutations and women with polycystic ovary syndrome.
Hum Reprod
; 34(1): 137-147, 2019 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476149
14.
Autocrine actions of prolactin contribute to the regulation of lactotroph function in vivo.
FASEB J
; 32(9): 4791-4797, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29596024
15.
Foetal exposure to mitotane/Op'DDD: Post-natal study of four children.
Clin Endocrinol (Oxf)
; 89(6): 805-812, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30222204
16.
Challenging pre-surgical localization of hyperfunctioning parathyroid glands in primary hyperparathyroidism: the added value of 18F-Fluorocholine PET/CT.
Eur J Nucl Med Mol Imaging
; 45(10): 1772-1780, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29680989
17.
New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing.
Hum Reprod
; 32(7): 1512-1520, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28505269
18.
Effects of cortisol on the heart: characterization of myocardial involvement in cushing's disease by longitudinal cardiac MRI T1 mapping.
J Magn Reson Imaging
; 45(1): 147-156, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27393826
19.
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.
Am J Hum Genet
; 92(5): 707-24, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23643381
20.
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Am J Hum Genet
; 92(5): 725-43, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23643382