about
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutationsMammalian sex determination—insights from humans and mice.Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activationHuman sex determination.A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patientCopy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.Sex determination and the Y chromosome.Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias.SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.Structure-function relationships in human testis-determining factor SRY: an aromatic buttress underlies the specific DNA-bending surface of a high mobility group (HMG) box.Mammalian testis-determining factor SRY and the enigma of inherited human sex reversal: frustrated induced fit in a bent protein-DNA complex.Correct dosage of Fog2 and Gata4 transcription factors is critical for fetal testis development in mice.A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.The Genetics of Infertility: Current Status of the Field.SRY protein function in sex determination: thinking outside the box.Perspectives in Pediatric Pathology, Chapter 5. Gonadal Dysgenesis.An SRY-negative XX male with Huriez syndrome.Concepts and Updates in the Evaluation and Diagnosis of Common Disorders of Sexual Development.The biology of germ cell tumors in disorders of sex development.Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.Expression of the human SRY protein during development in normal male gonadal and sex-reversed tissues.Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.[Genetic aspects of fertility disorders].Sex chromosome mosaicism in gonads of a fetus with cystic hygroma and deletion of the short arm of Y chromosome including loss of SRY.Transgenic mouse analysis of Sry expression during the pre- and peri-implantation stage.A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal.
P2860
Q24297498-134E9A8F-7A1A-4865-B7E9-7C37E2B944DAQ27691819-7C407800-F42A-49C4-9AE9-D365B9DD0EB9Q28185681-4F265DF7-4DC6-432F-B09D-9E93A0E1E1C7Q33368735-2418227A-743C-4312-9AB4-F1574636B838Q33695016-70103293-60C2-4E9E-95D8-39A7B5814E7FQ33847708-377FC5C9-1CC5-4726-8026-BF520DE30D2AQ33869529-7D945EFA-046D-45F4-B7F0-C7E715AA6148Q34283729-24E60C9E-1E67-4F9D-97E9-A2A0D0120FEEQ34479859-B0DAF090-F0DB-4648-B7E0-BBACB4805BEAQ34552512-4136ECD0-68BD-4D98-B622-7FDC3A77CE14Q35377992-489E6301-0051-4983-B97B-D09DDB96C00DQ36002556-9FB7BB94-F73F-4F68-BCA7-53C3117A8FCFQ36103279-DB1BE00C-4D27-4FFB-B53C-C5094C4B20FDQ37450892-3185B85F-8613-4DAA-9797-7F4E057C52D6Q37967474-2CAF853A-6F6B-4599-8678-31AE8FA9B94AQ38238117-255F305D-8CF8-4FEF-B831-3DA639ECCF26Q38497237-A40075C7-467E-4B19-AFCE-6AE6CE7A2321Q38627758-457D6A5E-FF8C-4D97-889B-FC0DBBC7AD03Q38975123-32B7571C-10B1-42AF-ADB1-87087928A027Q39334617-23DFB963-348A-40DC-A1BF-8BDB6CC0C8B2Q40762526-34E3F47B-6431-4E24-9416-39CFD3F0FD78Q42601666-C1BB2C8D-9896-4FCD-89F2-B70CC90EEC6CQ43783524-329D3CC3-1E10-4CC0-BC91-65C611799320Q48881962-10D19E23-63FF-4161-8F1F-D6C38CD6EEFAQ51343455-A1722372-4A7C-4D20-BC69-C66513606C5DQ51837443-B7C43643-05D3-4237-8E70-D20B30A81776
P2860
description
1997 nî lūn-bûn
@nan
1997 թուականին հրատարակուած գիտական յօդուած
@hyw
1997 թվականին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Mutations inSRY andSOX9: Testis-determining genes
@ast
Mutations inSRY andSOX9: Testis-determining genes
@en
type
label
Mutations inSRY andSOX9: Testis-determining genes
@ast
Mutations inSRY andSOX9: Testis-determining genes
@en
prefLabel
Mutations inSRY andSOX9: Testis-determining genes
@ast
Mutations inSRY andSOX9: Testis-determining genes
@en
P1433
P1476
Mutations inSRY andSOX9: Testis-determining genes
@en
P2093
Andrew H. Sinclair
Fergus J. Cameron
P304
P356
10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0
P577
1997-01-01T00:00:00Z