Detalhe da pesquisa
1.
Mutations in BOREALIN cause thyroid dysgenesis.
Hum Mol Genet
; 26(3): 599-610, 2017 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28025328
2.
Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.
Hum Reprod
; 31(4): 782-8, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26874361
3.
Screening of a Large Cohort of Asymptomatic SDHx Mutation Carriers in Routine Practice.
J Clin Endocrinol Metab
; 106(3): e1301-e1315, 2021 03 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33247927
4.
Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome).
Ann Endocrinol (Paris)
; 82(6): 555-571, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34508691
5.
Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration.
Reprod Biol Endocrinol
; 8: 28, 2010 Mar 19.
Artigo
Inglês
| MEDLINE | ID: mdl-20302644
6.
Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations.
Int J Paediatr Dent
; 20(4): 305-12, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20536592
7.
X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood.
Eur J Endocrinol
; 180(6): 397-406, 2019 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30991358
8.
Factors Affecting Loss to Follow-Up in Children and Adolescents with Chronic Endocrine Conditions.
Horm Res Paediatr
; 92(4): 254-261, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-32023623
9.
Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma.
J Clin Endocrinol Metab
; 104(4): 1109-1118, 2019 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30698717
10.
[Precocious pubertal]. / Pubertés précoces.
Rev Prat
; 58(12): 1317-23, 2008 Jun 30.
Artigo
Francês
| MEDLINE | ID: mdl-18714652
11.
Early Determinants of Thyroid Function Outcomes in Children with Congenital Hypothyroidism and a Normally Located Thyroid Gland: A Regional Cohort Study.
Thyroid
; 28(8): 959-967, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29968521
12.
High prevalence of syndromic disorders in patients with non-isolated central precocious puberty.
Eur J Endocrinol
; 179(6): 373-380, 2018 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30324796
13.
Should 45,X/46,XY boys with no or mild anomaly of external genitalia be investigated and followed up?
Eur J Endocrinol
; 179(3): 181-190, 2018 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-29973376
14.
SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook.
Ann Endocrinol (Paris)
; 79(1): 1-22, 2018 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-29338844
15.
Group 6. Modalities and frequency of monitoring of patients with adrenal insufficiency. Patient education.
Ann Endocrinol (Paris)
; 78(6): 544-558, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29183634
16.
Group 1. Epidemiology of primary and secondary adrenal insufficiency: Prevalence and incidence, acute adrenal insufficiency, long-term morbidity and mortality.
Ann Endocrinol (Paris)
; 78(6): 490-494, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29174931
17.
Impact of the underlying etiology of growth hormone deficiency on serum IGF-I SDS levels during GH treatment in children.
Eur J Endocrinol
; 177(3): 267-276, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28760908
18.
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).
Mol Cell Endocrinol
; 254-255: 78-83, 2006 Jul 25.
Artigo
Inglês
| MEDLINE | ID: mdl-16757108
19.
Phenotypic variation of SF1 gene mutations.
Adv Exp Med Biol
; 707: 67-72, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-21691958
20.
X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome.
Eur J Endocrinol
; 174(3): 281-8, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26744895