Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.

Item
http://www.wikidata.org/entity/Q44701884
Transcriptomic analysis of endangered Chinese salamander: identification of immune, sex and reproduction-related genes and genetic markersNHERF2/SIP-1 interacts with mouse SRY via a different mechanism than human SRY.Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signalingCopy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.46,XY female sex reversal syndrome with bilateral gonadoblastoma and dysgerminoma.Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.Chromosomal variants in klinefelter syndrome.Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.An unusual case of secondary amenorrhoeaThe molecular and cellular basis of gonadal sex reversal in mice and humans.Gonadal development and tumor formation at the crossroads of male and female sex determination.The Battle of the Sexes: Human Sex Development and Its Disorders.Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küster-Hauser syndromeGenetic Screening of Iranian Patients with 46,XY Disorders of Sex Development.
P2860

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.

Item
http://www.wikidata.org/entity/Q44701884
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.
@en
Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.
@nl
type
label
Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.
@en
Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.
@nl
prefLabel
Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.
@en
Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients
@en
P2093
P304
P31
P356
10.1590/S0100-879X2004000100020
P407
P433
P478
P50
P577
P5875
P698