Detalhe da pesquisa
1.
Persistent Müllerian duct syndrome associated with genetic defects in the regulatory subunit of myosin phosphatase.
Hum Reprod
; 37(12): 2952-2959, 2022 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331510
2.
Peroxisome proliferator-activated receptor gamma-ligand-binding domain mutations associated with familial partial lipodystrophy type 3 disrupt human trophoblast fusion and fibroblast migration.
J Cell Mol Med
; 24(13): 7660-7669, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32519441
3.
Karyotype - Phenotype Associations in Patients with Turner Syndrome.
Pediatr Endocrinol Rev
; 16(4): 431-440, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31245938
4.
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
5.
Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults.
J Clin Endocrinol Metab
; 108(2): 323-330, 2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36201475
6.
Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.
Eur J Endocrinol
; 188(3)2023 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36806620
7.
Fetal ovarian cysts: an early manifestation of McCune-Albright syndrome?
Prenat Diagn
; 32(9): 859-63, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22692721
8.
Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families.
Fertil Steril
; 117(4): 843-853, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35115167
9.
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
Orphanet J Rare Dis
; 17(Suppl 1): 261, 2022 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821070
10.
Physical and Reported Subjective Health Status in 222 Individuals with XY Disorder of Sex Development.
J Endocr Soc
; 5(8): bvab103, 2021 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34258493
11.
Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels.
Bone
; 153: 116170, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34492361
12.
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
em Inglês
| MEDLINE | ID: mdl-34508691
13.
Psychosocial well-being and quality of life in women with Turner syndrome.
Psychoneuroendocrinology
; 113: 104548, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31923612
14.
Clinical practice guidelines for contraception by the French National College of Gynecologists and Obstetricians (CNGOF).
J Gynecol Obstet Hum Reprod
; 48(7): 441-454, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31051299
15.
Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study.
J Clin Endocrinol Metab
; 93(3): 895-900, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18182450
16.
Aberrant expression of ovary determining gene FOXL2 in the testis and juvenile granulosa cell tumor in children.
J Urol
; 180(4 Suppl): 1810-3, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18721930
17.
[Normal puberty]. / Puberté normale.
Rev Prat
; 58(12): 1311-6, 2008 Jun 30.
Artigo
em Francês
| MEDLINE | ID: mdl-18714651
18.
TLR7 escapes X chromosome inactivation in immune cells.
Sci Immunol
; 3(19)2018 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29374079
19.
Noonan syndrome males display Sertoli cell-specific primary testicular insufficiency.
Eur J Endocrinol
; 179(6): 409-418, 2018 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30325180
20.
Pregnancy outcome in Turner syndrome: A French multi-center study after the 2009 guidelines.
Eur J Obstet Gynecol Reprod Biol
; 229: 20-25, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30096465