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A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal
(Editrice Kurtis S R LMilanItália, 2005)
Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis
(ELSEVIER SCIENCE BVAMSTERDAM, 2012)
Despite advances in our understanding of the mechanisms involved in sex determination and differentiation, the specific roles of many genes in these processes are not completely understood in humans. Both DMRT1 and FGF9 ...
Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases
(Elsevier Science IncNew YorkEUA, 2011)
Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study
(Polish Acad Sciences, Inst Plant GeneticsPoznanPolónia, 2010)
Factors associated with the reduction of bone density in patients with gonadal dysgenesis
(Elsevier Science IncNew YorkEUA, 2002)
STRUCTURAL-ABERRATION OF THE X-CHROMOSOME IN A PATIENT WITH GONADAL-DYSGENESIS - AN APPROACH TO KARYOTYPE-PHENOTYPE CORRELATION
(British Med Journal Publ Group, 1981-01-01)
STRUCTURAL-ABERRATION OF THE X-CHROMOSOME IN A PATIENT WITH GONADAL-DYSGENESIS - AN APPROACH TO KARYOTYPE-PHENOTYPE CORRELATION
(British Med Journal Publ Group, 1981-01-01)
Male Hypogonadism and Disorders of Sex Development
(Frontiers Media, 2020-04-15)
Disorders of Sex Development (DSD) are congenital anomalies in which there is a discordance between chromosomal, genetic, gonadal and/or internal/external genital sex. In XY individuals, the process of fetal sex differentiation ...