Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?

Autores
Rey, Rodolfo Alberto
Año de publicación
2022
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Disorders of sex development (DSD) are a group of highly heterogeneous disorders presenting mainly at birth or at pubertal age, characterized by discordance between chromosomal, gonadal, and/or genital sex. Newborns usually present with ambiguous genitalia while adolescents present with atypical or downright absent pubertal development (1)...
Fil: Rey, Rodolfo Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina
Materia
DSD
FETAL SEX DIFFERENTIATION
HYPOSPADIAS
INTERSEX
NGS
SEX REVERSAL
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/215029
Acceder
id CONICETDig_ec5dc5dbd4d0486f534496cc3b020ca7
oai_identifier_str oai:ri.conicet.gov.ar:11336/215029
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?Rey, Rodolfo AlbertoDSDFETAL SEX DIFFERENTIATIONHYPOSPADIASINTERSEXNGSSEX REVERSALhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Disorders of sex development (DSD) are a group of highly heterogeneous disorders presenting mainly at birth or at pubertal age, characterized by discordance between chromosomal, gonadal, and/or genital sex. Newborns usually present with ambiguous genitalia while adolescents present with atypical or downright absent pubertal development (1)...Fil: Rey, Rodolfo Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaOxford University Press2022-06info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/215029Rey, Rodolfo Alberto; Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?; Oxford University Press; Journal of Clinical Endocrinology and Metabolism; 107; 6; 6-2022; E2628-E26290021-972X1945-7197CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1210/clinem/dgac133info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/article/107/6/e2628/6543736info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T09:43:54Zoai:ri.conicet.gov.ar:11336/215029instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 09:43:54.451CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?
title Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?
spellingShingle Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?
Rey, Rodolfo Alberto
DSD
FETAL SEX DIFFERENTIATION
HYPOSPADIAS
INTERSEX
NGS
SEX REVERSAL
title_short Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?
title_full Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?
title_fullStr Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?
title_full_unstemmed Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?
title_sort Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?
dc.creator.none.fl_str_mv Rey, Rodolfo Alberto
author Rey, Rodolfo Alberto
author_facet Rey, Rodolfo Alberto
author_role author
dc.subject.none.fl_str_mv DSD
FETAL SEX DIFFERENTIATION
HYPOSPADIAS
INTERSEX
NGS
SEX REVERSAL
topic DSD
FETAL SEX DIFFERENTIATION
HYPOSPADIAS
INTERSEX
NGS
SEX REVERSAL
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Disorders of sex development (DSD) are a group of highly heterogeneous disorders presenting mainly at birth or at pubertal age, characterized by discordance between chromosomal, gonadal, and/or genital sex. Newborns usually present with ambiguous genitalia while adolescents present with atypical or downright absent pubertal development (1)...
Fil: Rey, Rodolfo Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina
description Disorders of sex development (DSD) are a group of highly heterogeneous disorders presenting mainly at birth or at pubertal age, characterized by discordance between chromosomal, gonadal, and/or genital sex. Newborns usually present with ambiguous genitalia while adolescents present with atypical or downright absent pubertal development (1)...
publishDate 2022
dc.date.none.fl_str_mv 2022-06
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/215029
Rey, Rodolfo Alberto; Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?; Oxford University Press; Journal of Clinical Endocrinology and Metabolism; 107; 6; 6-2022; E2628-E2629
0021-972X
1945-7197
CONICET Digital
CONICET
url http://hdl.handle.net/11336/215029
identifier_str_mv Rey, Rodolfo Alberto; Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?; Oxford University Press; Journal of Clinical Endocrinology and Metabolism; 107; 6; 6-2022; E2628-E2629
0021-972X
1945-7197
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1210/clinem/dgac133
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/article/107/6/e2628/6543736
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Oxford University Press
publisher.none.fl_str_mv Oxford University Press
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1842268631348543488
score 13.13397

Publicaciones similares