Detalhe da pesquisa
1.
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity.
Am J Med Genet A
; 164A(8): 1965-75, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24782328
2.
DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review.
Front Pediatr
; 11: 1150418, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37215607
3.
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
4.
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
5.
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
J Clin Endocrinol Metab
; 108(9): e779-e788, 2023 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36884306
6.
Gonadal function in Noonan syndrome.
Ann Endocrinol (Paris)
; 83(3): 203-206, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35489412
7.
The impact of Klinefelter syndrome on socioeconomic status: a multicenter study.
Endocr Connect
; 11(7)2022 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35700267
8.
Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.
Front Endocrinol (Lausanne)
; 12: 657913, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34248839
9.
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
10.
[Normal puberty]. / Puberté normale.
Rev Prat
; 58(12): 1311-6, 2008 Jun 30.
Artigo
em Francês
| MEDLINE | ID: mdl-18714651
11.
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
12.
[How to perform a gynecological examination in the girl]? / Comment réaliser un examen gynécologique chez la petite fille ?
Rev Prat
; 67(4): 382-385, 2017 04.
Artigo
em Francês
| MEDLINE | ID: mdl-30512879
13.
Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation.
PLoS One
; 10(11): e0142354, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26562670
14.
Adolescents with partial growth hormone (GH) deficiency develop alterations of body composition after GH discontinuation and require follow-up.
J Clin Endocrinol Metab
; 88(11): 5101-6, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14602733
15.
[Gynecology of the grirl : 10 key words]. / Gynécologie de la petite fille : les 10 points clés pour le médecin traitant
Rev Prat
; 67(4): 395, 2017 04.
Artigo
em Francês
| MEDLINE | ID: mdl-30512882
16.
Fetal ovarian cysts management and ovarian prognosis: a report of 82 cases.
J Pediatr Surg
; 43(11): 2004-9, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18970932