Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype

Earlier reports demonstrated a key role of Cdkn1b during mouse ovarian development. In this study, the sequencing analysis of the complete coding region of this gene in a panel of premature ovarian failure patients and control subjects reveals a novel mutation potentially related to the phenotype. ©...

Full description

Autores:
Tipo de recurso:
Fecha de publicación:
2011
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/24059
Acceso en línea:
https://doi.org/10.1016/j.fertnstert.2011.04.045
https://repository.urosario.edu.co/handle/10336/24059
Palabra clave:
Cyclin dependent kinase inhibitor 1B
Follitropin
Adult
Article
Autoimmune disease
Controlled study
Female
Female infertility
Follitropin blood level
Gene mutation
Genetic analysis
Genetic code
Human
Informed consent
Karyotype
Major clinical study
Ovary development
Ovary insufficiency
Pelvis surgery
Phenotype
Premature ovarian failure
Priority journal
Sequence analysis
Single nucleotide polymorphism
CDKN1B
Mutations
Premature ovarian failure (POF)
Sequencing
Rights
License
Abierto (Texto Completo)
id EDOCUR2_723e16d6adf5b2b7d8e4909da1b5d6b0
oai_identifier_str oai:repository.urosario.edu.co:10336/24059
network_acronym_str EDOCUR2
network_name_str Repositorio EdocUR - U. Rosario
repository_id_str
spelling fa97c89c-7376-43e8-b2e2-a5783d0a75f13b3ec9cb-9a38-4ba8-8c72-c2e44df577535209482560011eee915-bbc6-4ffd-b0f0-4515f80d62b54a4b687a-b51d-43e7-b8e7-e41cb44155f72a135e49-0a9b-4bd0-aeeb-1127e4f68c9619331819600efc17054-d94e-44be-a3f2-64e71e127b3e22d97d6f-f54b-421c-89dd-29e6ebdab1d4f27097fd-56db-4d27-91ed-7ffc57f6a0462020-05-26T00:08:09Z2020-05-26T00:08:09Z2011Earlier reports demonstrated a key role of Cdkn1b during mouse ovarian development. In this study, the sequencing analysis of the complete coding region of this gene in a panel of premature ovarian failure patients and control subjects reveals a novel mutation potentially related to the phenotype. © 2011 by American Society for Reproductive Medicine.application/pdfhttps://doi.org/10.1016/j.fertnstert.2011.04.045150282https://repository.urosario.edu.co/handle/10336/24059engElsevier Inc.2660.e1No. 82658Fertility and SterilityVol. 95Fertility and Sterility, ISSN:150282, Vol.95, No.8 (2011); pp. 2658-2660.e1https://www.scopus.com/inward/record.uri?eid=2-s2.0-79959751824&doi=10.1016%2fj.fertnstert.2011.04.045&partnerID=40&md5=28ecf0ec8b9d87ed20486bc697a85953Abierto (Texto Completo)http://purl.org/coar/access_right/c_abf2instname:Universidad del Rosarioreponame:Repositorio Institucional EdocURCyclin dependent kinase inhibitor 1BFollitropinAdultArticleAutoimmune diseaseControlled studyFemaleFemale infertilityFollitropin blood levelGene mutationGenetic analysisGenetic codeHumanInformed consentKaryotypeMajor clinical studyOvary developmentOvary insufficiencyPelvis surgeryPhenotypePremature ovarian failurePriority journalSequence analysisSingle nucleotide polymorphismCDKN1BMutationsPremature ovarian failure (POF)SequencingSequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotypearticleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Ojeda D.Lakhal B.Fonseca Mendoza, Dora JanethBraham R.Landolsi H.Mateus H.E.Restrepo Fernández, Carlos MartínElghezal H.Saâd A.Laissue P.ORIGINALPIIS0015028211006583.pdfapplication/pdf224003https://repository.urosario.edu.co/bitstreams/5314482b-db92-4faa-b384-6ad186294b67/download90cd9286f2096fcbe10f8b95ecf1756fMD51TEXTPIIS0015028211006583.pdf.txtPIIS0015028211006583.pdf.txtExtracted texttext/plain16314https://repository.urosario.edu.co/bitstreams/bbee2739-4da6-4bbf-aff4-5620f7ede876/download5abca3ff396202ff046e1108436d0f16MD52THUMBNAILPIIS0015028211006583.pdf.jpgPIIS0015028211006583.pdf.jpgGenerated Thumbnailimage/jpeg4836https://repository.urosario.edu.co/bitstreams/3397305b-f64e-4607-a85b-f308a5ca6791/download9c44d231235dad841cb2d73c7bdba4caMD5310336/24059oai:repository.urosario.edu.co:10336/240592022-05-02 07:37:16.64746https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co
dc.title.spa.fl_str_mv Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype
title Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype
spellingShingle Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype
Cyclin dependent kinase inhibitor 1B
Follitropin
Adult
Article
Autoimmune disease
Controlled study
Female
Female infertility
Follitropin blood level
Gene mutation
Genetic analysis
Genetic code
Human
Informed consent
Karyotype
Major clinical study
Ovary development
Ovary insufficiency
Pelvis surgery
Phenotype
Premature ovarian failure
Priority journal
Sequence analysis
Single nucleotide polymorphism
CDKN1B
Mutations
Premature ovarian failure (POF)
Sequencing
title_short Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype
title_full Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype
title_fullStr Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype
title_full_unstemmed Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype
title_sort Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype
dc.subject.keyword.spa.fl_str_mv Cyclin dependent kinase inhibitor 1B
Follitropin
Adult
Article
Autoimmune disease
Controlled study
Female
Female infertility
Follitropin blood level
Gene mutation
Genetic analysis
Genetic code
Human
Informed consent
Karyotype
Major clinical study
Ovary development
Ovary insufficiency
Pelvis surgery
Phenotype
Premature ovarian failure
Priority journal
Sequence analysis
Single nucleotide polymorphism
CDKN1B
Mutations
Premature ovarian failure (POF)
Sequencing
topic Cyclin dependent kinase inhibitor 1B
Follitropin
Adult
Article
Autoimmune disease
Controlled study
Female
Female infertility
Follitropin blood level
Gene mutation
Genetic analysis
Genetic code
Human
Informed consent
Karyotype
Major clinical study
Ovary development
Ovary insufficiency
Pelvis surgery
Phenotype
Premature ovarian failure
Priority journal
Sequence analysis
Single nucleotide polymorphism
CDKN1B
Mutations
Premature ovarian failure (POF)
Sequencing
description Earlier reports demonstrated a key role of Cdkn1b during mouse ovarian development. In this study, the sequencing analysis of the complete coding region of this gene in a panel of premature ovarian failure patients and control subjects reveals a novel mutation potentially related to the phenotype. © 2011 by American Society for Reproductive Medicine.
publishDate 2011
dc.date.created.spa.fl_str_mv 2011
dc.date.accessioned.none.fl_str_mv 2020-05-26T00:08:09Z
dc.date.available.none.fl_str_mv 2020-05-26T00:08:09Z
dc.type.eng.fl_str_mv article
dc.type.coarversion.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_6501
dc.type.spa.spa.fl_str_mv Artículo
dc.identifier.doi.none.fl_str_mv https://doi.org/10.1016/j.fertnstert.2011.04.045
dc.identifier.issn.none.fl_str_mv 150282
dc.identifier.uri.none.fl_str_mv https://repository.urosario.edu.co/handle/10336/24059
url https://doi.org/10.1016/j.fertnstert.2011.04.045
https://repository.urosario.edu.co/handle/10336/24059
identifier_str_mv 150282
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.citationEndPage.none.fl_str_mv 2660.e1
dc.relation.citationIssue.none.fl_str_mv No. 8
dc.relation.citationStartPage.none.fl_str_mv 2658
dc.relation.citationTitle.none.fl_str_mv Fertility and Sterility
dc.relation.citationVolume.none.fl_str_mv Vol. 95
dc.relation.ispartof.spa.fl_str_mv Fertility and Sterility, ISSN:150282, Vol.95, No.8 (2011); pp. 2658-2660.e1
dc.relation.uri.spa.fl_str_mv https://www.scopus.com/inward/record.uri?eid=2-s2.0-79959751824&doi=10.1016%2fj.fertnstert.2011.04.045&partnerID=40&md5=28ecf0ec8b9d87ed20486bc697a85953
dc.rights.coar.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.rights.acceso.spa.fl_str_mv Abierto (Texto Completo)
rights_invalid_str_mv Abierto (Texto Completo)
http://purl.org/coar/access_right/c_abf2
dc.format.mimetype.none.fl_str_mv application/pdf
dc.publisher.spa.fl_str_mv Elsevier Inc.
institution Universidad del Rosario
dc.source.instname.spa.fl_str_mv instname:Universidad del Rosario
dc.source.reponame.spa.fl_str_mv reponame:Repositorio Institucional EdocUR
bitstream.url.fl_str_mv https://repository.urosario.edu.co/bitstreams/5314482b-db92-4faa-b384-6ad186294b67/download
https://repository.urosario.edu.co/bitstreams/bbee2739-4da6-4bbf-aff4-5620f7ede876/download
https://repository.urosario.edu.co/bitstreams/3397305b-f64e-4607-a85b-f308a5ca6791/download
bitstream.checksum.fl_str_mv 90cd9286f2096fcbe10f8b95ecf1756f
5abca3ff396202ff046e1108436d0f16
9c44d231235dad841cb2d73c7bdba4ca
bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
MD5
repository.name.fl_str_mv Repositorio institucional EdocUR
repository.mail.fl_str_mv edocur@urosario.edu.co
_version_ 1814167669932294144

Publicaciones similares