Detalhe da pesquisa
1.
Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.
Clin Endocrinol (Oxf)
; 82(5): 704-11, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25040157
2.
Androgen Insensitivity Syndrome at Prepuberty: Marked Loss of Spermatogonial Cells at Early Childhood and Presence of Gonocytes up to Puberty.
Sex Dev
; 11(5-6): 225-237, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29393262
3.
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
Horm Res Paediatr
; 78(2): 119-26, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22907560
4.
Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.
Horm Res Paediatr
; 75(1): 70-7, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-20861607
5.
Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.
J Clin Endocrinol Metab
; 95(9): E98-103, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20534762