Results 151 to 160 of about 3,198 (197)

Exploring the underlying gene expression profiles of differences of sex development phenotypes through transcriptome analysis. [PDF]

Sci Rep
Fabbri-Scallet H, Calonga-Solís V, Guerra-Júnior G, de Mello MP, Maciel-Guerra AT, Miranda ML, Antolini-Tavares A, Busch H, Künstner A, Werner R, Hiort O.   +10 more
europepmc   +1 more source

P503: Familiar segregation of autosomal dominant of 46,XY DSD with mutation in NR5A1

Genetics in Medicine Open
Maria Dolores Hernandez-Almaguer, Julio Valenzuela, Rosela Gallardo, Blanca Barrera, Melania Abreu   +4 more
openaire   +2 more sources

The intersection of disorders of sex development and cardiovascular diseases. [PDF]

Biol Sex Differ
Hashmi S, Aherrahrou R.
europepmc   +1 more source

Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study. [PDF]

Sex Dev
Poyrazoglu S, Aghayev A, Toksoy G, Karaman B, Aslanger AD, Avci S, Altunoglu U, Karaman V, Yildiz M, Abali ZY, Bas F, Basaran S, Darendeliler F, Uyguner ZO.   +13 more
europepmc   +1 more source

Functional and structural characterization of <i>POR</i> splicing variants reveals pathogenic mechanisms in PORD. [PDF]

Front Endocrinol (Lausanne)
Zhang XJ, Zhou FY, Xu XW, Wang C, Qian Y, Gong CY, Sheng WC, Shu JB, Cai CQ, Zhang MY.   +9 more
europepmc   +1 more source

Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development.

Sex Dev
Lima-Santos J, Nascimento-Vidoti CG, Correia-Costa GR, Campos NLV, Guaragna MS, de Oliveira FM, Barros BA, Miranda ML, Antolini Tavares A, Guerra-Junior G, Maciel-Guerra AT, Fabbri-Scallet H, Vieira TP.   +12 more
europepmc   +1 more source

Gene-Dosage Effect of V89L Variants in Steroid 5α-Reductase Type 2 and Increased Risk of 46, XY Disorders of Sex Development: A Systematic Review and Meta-Analysis.

J Indian Assoc Pediatr Surg
Deeba F, Choudhury P, Sharma J, Jain V, Dhua AK, Yadav DK, Singh H, Afroz M, Dhikav V, Kumar N, Pandey H, Lal D, Goel P.   +12 more
europepmc   +1 more source

Germ cell and other tumors in individuals with differences in sex development

Ca-A Cancer Journal for Clinicians
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, MIGUEL Reyes-Múgica   +1 more
exaly   +2 more sources

Some of the next articles are maybe not open access.

Related searches:

A model of delivering multi-disciplinary care to people with 46 XY DSD

Journal of Pediatric Urology, 2012
In 2006, a consensus statement was jointly produced by the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society of Paediatric Endocrinology (ESPE) concerning the management of disorders of sex development (DSD) [1]. A recommendation provided by this consensus was that evaluation and long-term care for people affected by DSD ...
Blake W Palmer, Amy B Wisniewski, Ashwini Mallappa   +2 more
exaly   +3 more sources