Detalhe da pesquisa
1.
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
2.
Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.
Andrologia
; 53(1): e13865, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108824
3.
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
4.
Oestradiol level, oestrogen receptors, and mortality in elderly men: The three-city cohort study.
Clin Endocrinol (Oxf)
; 89(4): 514-525, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29935032
5.
Sex hormone-binding globulin and thrombin generation in women using hormonal contraception.
Biomarkers
; 22(1): 81-85, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27323874
6.
Women Epidemiology Lung Cancer (WELCA) study: reproductive, hormonal, occupational risk factors and biobank.
BMC Public Health
; 17(1): 324, 2017 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28415992
7.
Three Novel Heterozygous Point Mutations of NR3C1 Causing Glucocorticoid Resistance.
Hum Mutat
; 37(8): 794-803, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120390
8.
Prevalence of KISS1 Receptor mutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study.
Hum Reprod
; 31(6): 1363-74, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27094476
9.
Bile Ducts in Regenerative Liver Nodules of Alagille Patients Are Not the Result of Genetic Mosaicism.
J Pediatr Gastroenterol Nutr
; 61(1): 91-3, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25643021
10.
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.
N Engl J Med
; 365(25): 2377-88, 2011 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22187985
11.
Low testosterone and the risk of dementia in elderly men: Impact of age and education.
Alzheimers Dement
; 10(5 Suppl): S306-14, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24035146
12.
Kisspeptin restores pulsatile LH secretion in patients with neurokinin B signaling deficiencies: physiological, pathophysiological and therapeutic implications.
Neuroendocrinology
; 97(2): 193-202, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-22377698
13.
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.
N Engl J Med
; 360(26): 2742-8, 2009 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-19535795
14.
Endogenous oestradiol as a positive correlate of plasma fibrinogen among older postmenopausal women: a population-based study (the Three-City cohort study).
Clin Endocrinol (Oxf)
; 77(6): 905-10, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22642405
15.
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.
Hum Reprod
; 27(5): 1460-5, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22416012
16.
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Genes (Basel)
; 13(2)2022 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205364
17.
Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2.
Hum Mutat
; 32(11): 1239-42, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21793104
18.
Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.
Lancet Diabetes Endocrinol
; 9(12): 813-824, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34655521
19.
Testosterone levels and cause-specific mortality in the older French men without metabolic syndrome.
Epidemiol Health
; 42: e2020036, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32512663
20.
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Hum Mutat
; 30(6): 934-45, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19367636