Detalhe da pesquisa
1.
Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/ß-catenin signaling.
Hum Mol Genet
; 23(4): 1073-83, 2014 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24135036
2.
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
J Med Genet
; 52(4): 240-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604083
3.
R-spondin1 is essential in sex determination, skin differentiation and malignancy.
Nat Genet
; 38(11): 1304-9, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17041600
4.
CXorf6 is a causative gene for hypospadias.
Nat Genet
; 38(12): 1369-71, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17086185
5.
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.
Am J Hum Genet
; 87(6): 898-904, 2010 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21129722
6.
RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell-cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development.
Orphanet J Rare Dis
; 17(1): 275, 2022 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35854363
7.
Activation of beta-catenin signaling by Rspo1 controls differentiation of the mammalian ovary.
Hum Mol Genet
; 17(9): 1264-77, 2008 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18250098
8.
Sex determination and sex reversal.
Curr Opin Genet Dev
; 16(3): 289-92, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16647843
9.
R-spondin1 and FOXL2 act into two distinct cellular types during goat ovarian differentiation.
BMC Dev Biol
; 8: 36, 2008 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-18384673
10.
Corticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene.
Eur J Endocrinol
; 153(2): 211-5, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16061826
11.
Association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: a new syndrome.
J Am Acad Dermatol
; 53(5 Suppl 1): S234-9, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16227098
12.
A Revised Genome Assembly of the Region 5' to Canine SOX9 Includes the RevSex Orthologous Region.
Sex Dev
; 9(3): 155-61, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26184845
13.
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.
Eur J Hum Genet
; 23(8): 1025-32, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25351776
14.
Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.
PLoS One
; 9(7): e101244, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25010117
15.
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family.
Am J Med Genet A
; 138A(3): 241-6, 2005 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16158431