Detalhe da pesquisa
1.
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Genet Med
; 25(6): 100855, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272927
2.
Reproductive Phenotypes and Genotypes in Men With IHH.
J Clin Endocrinol Metab
; 108(4): 897-908, 2023 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36268624
3.
Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms.
JCI Insight
; 8(3)2023 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36602867
4.
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Front Endocrinol (Lausanne)
; 13: 1054447, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36407308
5.
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.
J Clin Endocrinol Metab
; 105(5)2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32034419