Detalhe da pesquisa
1.
The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.
Am J Med Genet A
; 182(5): 1268-1272, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32134183
2.
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.
Am J Hum Genet
; 89(4): 572-9, 2011 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21963259
3.
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
Eur J Endocrinol
; 190(1): 34-43, 2024 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128121
4.
Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians.
J Clin Endocrinol Metab
; 92(10): 4000-8, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17666473
5.
A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia.
Eur J Endocrinol
; 167(2): 209-16, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22619348
6.
Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy.
Eur J Endocrinol
; 162(2): 221-6, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19897608
7.
Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence.
Diabetes
; 57(7): 1935-40, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18390792