Filtros de búsqueda

Lista de obras de Maria Szarras-Czapnik

A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome

artículo científico publicado en 2018

A psychosexual follow-up study of patients with mixed or partial gonadal dysgenesis

artículo científico publicado en 2007

Autocrine androgen action is essential for Leydig cell maturation and function, and protects against late-onset Leydig cell apoptosis in both mice and men.

artículo científico publicado en 2014

Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis

artículo científico publicado en 2004

Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche

artículo científico publicado en 2010

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

artículo científico publicado en 2011

Growth hormone-releasing hormone reverses secondary somatotroph unresponsiveness

artículo científico publicado en 1991

High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study

artículo científico publicado en 2010

Molecular study of the 5 alpha-reductase type 2 gene in three European families with 5 alpha-reductase deficiency ⬇️

artículo científico publicado el 1 de julio de 1995

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

artículo científico publicado en 2017

Precocious puberty due to hypothalamic hamartoma

artículo científico publicado en 2008

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

artículo científico publicado en 2010

The risk of mental disorders in patients with disorders/differences of sex differentiation/development (DSD) and Y chromosome

artículo científico publicado en 2020

The risk of neoplasm associated with dysgenetic testes in prepubertal and pubertal/adult patients

artículo científico

Treatment for 24 months with recombinant human GH has a beneficial effect on bone mineral density in young adults with childhood-onset GH deficiency

artículo científico publicado en 2009

Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects.

artículo científico publicado en 2005

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene

artículo científico publicado en 2009

[Anti-Müllerian hormone (AMH) measurements in the assessment of testicular function in prepubertal boys and in sexual differentiation disorders]

artículo científico publicado en 2006

[Estimation of the correlation of insulin resistance and selected adipocytokines in children with simple obesity--preliminary study]

scientific article published on 01 January 2006

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda