Detalhe da pesquisa
1.
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.
Proc Natl Acad Sci U S A
; 117(24): 13680-13688, 2020 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32493750
2.
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
Am J Hum Genet
; 102(3): 487-493, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478779
3.
SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.
Clin Endocrinol (Oxf)
; 94(4): 667-676, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296530
4.
Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals.
Hum Reprod
; 36(4): 1134-1145, 2021 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33448284
5.
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.
Proc Natl Acad Sci U S A
; 115(21): 5474-5479, 2018 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735715
6.
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Hum Mol Genet
; 27(7): 1228-1240, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29373757
7.
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
Genet Med
; 22(1): 150-159, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337883
8.
The TALE homeodomain of PBX1 is involved in human primary testis-determination.
Hum Mutat
; 40(8): 1071-1076, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31058389
9.
Identification of a missense variant in CLDN2 in obstructive azoospermia.
J Hum Genet
; 64(10): 1023-1032, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31320686
10.
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.
Hum Mutat
; 39(12): 1861-1874, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30067310
11.
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Hum Mol Genet
; 25(16): 3446-3453, 2016 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27378692
12.
Human sex-determination and disorders of sex-development (DSD).
Semin Cell Dev Biol
; 45: 77-83, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26526145
13.
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.
Hum Mol Genet
; 23(14): 3657-65, 2014 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24549039
14.
Familial early puberty: presentation and inheritance pattern in 139 families.
BMC Endocr Disord
; 16(1): 50, 2016 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27624871
15.
Familial forms of disorders of sex development may be common if infertility is considered a comorbidity.
BMC Pediatr
; 16(1): 195, 2016 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899089
16.
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
Am J Med Genet A
; 167A(8): 1851-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900885
17.
Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center.
Eur J Pediatr
; 174(6): 767-73, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25425520
18.
Consanguinity and disorders of sex development.
Hum Hered
; 77(1-4): 108-17, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25060274
19.
Specific aspects of consanguinity: some examples from the Tunisian population.
Hum Hered
; 77(1-4): 167-74, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25060280
20.
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
Nat Genet
; 38(4): 441-6, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16550169