Detalhe da pesquisa
1.
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Am J Hum Genet
; 106(1): 58-70, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883645
2.
Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome.
Neuroendocrinology
; 111(1-2): 99-114, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-32074614
3.
DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development.
Hum Mol Genet
; 27(2): 359-372, 2018 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29202173
4.
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Genet Med
; 22(11): 1759-1767, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32724172
5.
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.
Genet Med
; 20(8): 872-881, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29144511
6.
GnRH replacement rescues cognition in Down syndrome.
Science
; 377(6610): eabq4515, 2022 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36048943
7.
NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.
Sci Transl Med
; 14(665): eabh2369, 2022 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36197968
8.
Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene.
Endocrinol Diabetes Metab Case Rep
; 20212021 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34152287
9.
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
J Clin Invest
; 117(2): 457-63, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17235395
10.
Clinical Management of Congenital Hypogonadotropic Hypogonadism.
Endocr Rev
; 40(2): 669-710, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30698671
11.
A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.
Ann Pediatr Endocrinol Metab
; 24(1): 49-54, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30943680
12.
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism.
Elife
; 82019 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31291191
13.
The Reduction of Visceral Adipose Tissue after Roux-en-Y Gastric Bypass Is more Pronounced in Patients with Impaired Glucose Metabolism.
Obes Surg
; 28(12): 4006-4013, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30109666
14.
Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.
Endocr Connect
; 7(12): 1480-1490, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30496128
15.
Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.
Eur J Endocrinol
; 178(4): 377-388, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29419413
16.
The GPR54 gene as a regulator of puberty.
N Engl J Med
; 349(17): 1614-27, 2003 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-14573733
17.
ß-Klotho deficiency protects against obesity through a crosstalk between liver, microbiota, and brown adipose tissue.
JCI Insight
; 2(8)2017 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28422755
18.
KLB, encoding ß-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
EMBO Mol Med
; 9(10): 1379-1397, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28754744
19.
Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.
Mol Cell Endocrinol
; 254-255: 60-9, 2006 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-16764984
20.
Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.
J Clin Endocrinol Metab
; 90(3): 1317-22, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15613419