Detalhe da pesquisa
1.
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.
Hum Mol Genet
; 28(10): 1620-1628, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30608580
2.
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.
Clin Genet
; 95(1): 172-176, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30294972
3.
Androgen receptor mRNA analysis from whole blood: a low-cost strategy for detection of androgen receptor gene splicing defects.
Clin Genet
; 94(5): 489-490, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193409
4.
Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre.
Clin Endocrinol (Oxf)
; 82(2): 274-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25074426
5.
Quality of life of patients with 46,XX and 46,XY disorders of sex development.
Clin Endocrinol (Oxf)
; 82(2): 159-64, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25040878
6.
A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion.
Muscle Nerve
; 57(1): E95-E97, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28877561
7.
Marijuana Is Associated With a Hormonal Imbalance Among Several Habits Related to Male Infertility: A Retrospective Study.
Front Reprod Health
; 4: 820451, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36303626
8.
WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease.
Sex Dev
; 16(1): 46-54, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34392242
9.
Long-term surgical outcome of masculinizing genitoplasty in large cohort of patients with disorders of sex development.
J Urol
; 184(3): 1122-7, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20650476
10.
46,XY disorders of sex development (DSD).
Clin Endocrinol (Oxf)
; 70(2): 173-87, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18811725
11.
Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome.
J Clin Endocrinol Metab
; 104(12): 6385-6390, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31393562
12.
Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.
Endocr Rev
; 40(6): 1547-1572, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31365064
13.
Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.
J Pediatr Endocrinol Metab
; 31(2): 223-228, 2018 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29267169
14.
Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.
Mol Genet Genomic Med
; 6(5): 785-795, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29998616
15.
Polymorphisms identified in the upstream core polyadenylation signal of IGF1 gene exon 6 do not cause pre- and postnatal growth impairment.
J Clin Endocrinol Metab
; 92(12): 4889-92, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17895313
16.
46,XY disorder of sex development (DSD) due to 17ß-hydroxysteroid dehydrogenase type 3 deficiency.
J Steroid Biochem Mol Biol
; 165(Pt A): 79-85, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27163392
17.
Reprint of "Steroid 5α-reductase 2 deficiency".
J Steroid Biochem Mol Biol
; 165(Pt A): 95-100, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27842977
18.
Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype.
Sex Dev
; 11(2): 78-81, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28456808
19.
46,XY disorders of sex development (46,XY DSD) due to androgen receptor defects: androgen insensitivity syndrome.
Adv Exp Med Biol
; 707: 59-61, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21691956
20.
46,XY DSD due to 17ß-HSD3 deficiency and 5α-reductase type 2 deficiency.
Adv Exp Med Biol
; 707: 9-14, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21691945