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.
Central precocious puberty: Recent advances in understanding the aetiology and in the clinical approach.
Clin Endocrinol (Oxf);
95(4): 542-555, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33797780
3.
SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.
Clin Endocrinol (Oxf);
94(4): 667-676, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33296530
4.
Interaction between accumulated 21-deoxysteroids and mineralocorticoid signaling in 21-hydroxylase deficiency.
Am J Physiol Endocrinol Metab;
318(2): E102-E110, 2020 02 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31821037
5.
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
6.
Growing heart in congenital hypopituitarism treated in adulthood.
Lancet;
402(10412): 1562-1563, 2023 10 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37898533
7.
Mental Health of a Large Group of Adults With Disorders of Sex Development in Six European Countries.
Psychosom Med;
81(7): 629-640, 2019 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31232913
8.
Sexuality in Adults with Differences/Disorders of Sex Development (DSD): Findings from the dsd-LIFE Study.
J Sex Marital Ther;
45(8): 688-705, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31034334
9.
Lack of consensus in the choice of termination of pregnancy for Turner syndrome in France.
BMC Health Serv Res;
19(1): 994, 2019 Dec 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31870363
10.
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
11.
Hormone therapy and patient satisfaction with treatment, in a large cohort of diverse disorders of sex development.
Clin Endocrinol (Oxf);
88(3): 397-408, 2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29149458
12.
Gender Dysphoria and Gender Change in Disorders of Sex Development/Intersex Conditions: Results From the dsd-LIFE Study.
J Sex Med;
15(5): 777-785, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29606626
13.
Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared to country specific reference populations (dsd-LIFE).
Health Qual Life Outcomes;
16(1): 54, 2018 Apr 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29615040
14.
Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE).
BMC Health Serv Res;
18(1): 527, 2018 07 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29976186
15.
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
16.
Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population.
BMC Endocr Disord;
17(1): 52, 2017 Aug 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28821302
17.
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
18.
The role of pre- and postnatal investigations in suspected isolated hypospadias.
J Gynecol Obstet Hum Reprod;
53(7): 102781, 2024 Mar 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38561025
19.
Gonadotropin administration to mimic mini-puberty in hypogonadotropic males: pump or injections?
Endocr Connect;
12(4)2023 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36724045
20.
Quality of life in men with Klinefelter syndrome: a multicentre study.
Endocr Connect;
12(10)2023 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37578764