Detalhe da pesquisa
1.
A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression.
Int J Mol Sci
; 23(10)2022 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35628442
2.
Pubertal delay: the challenge of a timely differential diagnosis between congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty.
Minerva Pediatr
; 72(4): 278-287, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32418410
3.
Clinical and genetic characterisation of a series of patients with triple A syndrome.
Eur J Pediatr
; 177(3): 363-369, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29255950
4.
A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia.
Hum Mol Genet
; 24(21): 6003-12, 2015 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26246498
5.
Defective jagged-1 signaling affects GnRH development and contributes to congenital hypogonadotropic hypogonadism.
JCI Insight
; 8(5)2023 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729644
6.
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency.
Dis Model Mech
; 16(3)2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36810932
7.
Glis3 as a Critical Regulator of Thyroid Primordium Specification.
Thyroid
; 30(2): 277-289, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31797737
8.
Triple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity.
Protein Pept Lett
; 27(12): 1192-1203, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533814
9.
Evidence for a Common Genetic Origin of Classic and Milder Adult-Onset Forms of Isolated Hypogonadotropic Hypogonadism.
J Clin Med
; 8(1)2019 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30669598
10.
Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome.
Endocr Connect
; 7(12): 1432-1441, 2018 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30550377
11.
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).
Eur J Endocrinol
; 178(1): 23-32, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28882981
12.
The complex genetic basis of congenital hypogonadotropic hypogonadism.
Minerva Endocrinol
; 41(2): 223-39, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26934720