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.
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
3.
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
4.
Male infertility and copy number variants (CNVs) in the dog: a two-pronged approach using Computer Assisted Sperm Analysis (CASA) and Fluorescent In Situ Hybridization (FISH).
BMC Genomics
; 14: 921, 2013 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24373333
5.
ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.
Dig Liver Dis
; 53(3): 329-344, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33390354
6.
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
7.
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
8.
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
9.
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
10.
Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.
J Clin Invest
; 125(6): 2413-28, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25985275