Detalhe da pesquisa
1.
A novel homozygous nonsense NDNF variant in Kallmann syndrome.
Am J Med Genet A
; 191(3): 831-834, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454653
2.
Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans.
Hum Genet
; 141(2): 295-304, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35066646
3.
Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism.
Genet Med
; 23(6): 1008-1016, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495532
4.
Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance.
Clin Endocrinol (Oxf)
; 88(6): 799-805, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29582446
5.
POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression.
Front Endocrinol (Lausanne)
; 14: 1203542, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37600690
6.
Comparative Analyses of Turkish Variome and Widely Used Genomic Variation Databases for the Evaluation of Rare Sequence Variants in Turkish Individuals: Idiopathic Hypogonadotropic Hypogonadism as a Disease Model
J Clin Res Pediatr Endocrinol
; 14(3): 293-301, 2022 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35438269
7.
PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism.
J Neuroendocrinol
; 34(4): e13103, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170806
8.
DLG2 Mutations in the Etiology of Pubertal Delay and Idiopathic Hypogonadotropic Hypogonadism.
Horm Res Paediatr
; 94(9-10): 364-368, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34695822
9.
Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets.
J Pediatr Endocrinol Metab
; 34(5): 639-648, 2021 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33852231
10.
Molecular causes of hypogonadotropic hypogonadism.
Curr Opin Obstet Gynecol
; 22(4): 264-70, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20543690
11.
A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency.
J Pediatr Endocrinol Metab
; 33(12): 1613-1615, 2020 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32853167
12.
A Novel Frameshift Mutation in ESCO2 Gene in Roberts Syndrome.
J Coll Physicians Surg Pak
; 28(5): 403-405, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29690975
13.
Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.
J Clin Res Pediatr Endocrinol
; 9(2): 95-100, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28008864
14.
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1.
J Clin Res Pediatr Endocrinol
; 8(2): 125-34, 2016 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27086651