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

Diego Ojeda; Besma Lakhal; Dora Janneth Fonseca; Rim Braham; Hanne Landolsi; Heidi Eliana Mateus; Carlos Martín Restrepo; Hatem Elghezal; Ali Saâd; Paul Laissue

doi:10.1016/j.fertnstert.2011.04.045

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

Título traducido de la contribución: El análisis de secuencia del gen CDKN1B en pacientes con insuficiencia ovárica prematura revela una nueva mutación potencialmente relacionada con el fenotipo

Diego Ojeda
, Besma Lakhal
, Dora Janneth Fonseca
, Rim Braham
, Hanne Landolsi
, Heidi Eliana Mateus
, Carlos Martín Restrepo
, Hatem Elghezal
, Ali Saâd
, Paul Laissue

Producción científica: Contribución a revista › Artículo de Investigación › revisión exhaustiva

17 Citas (Scopus)

Resumen

Informes anteriores demostraron un papel clave de Cdkn1b durante el desarrollo ovárico del ratón. En este estudio, el análisis de secuenciación de la región codificante completa de este gen en un panel de pacientes con insuficiencia ovárica prematura y sujetos de control revela una nueva mutación potencialmente relacionada con el fenotipo.

Título traducido de la contribución	El análisis de secuencia del gen CDKN1B en pacientes con insuficiencia ovárica prematura revela una nueva mutación potencialmente relacionada con el fenotipo
Idioma original	Inglés estadounidense
Número de artículo	e1
Páginas (desde-hasta)	2658-2660
Número de páginas	4
Publicación	Fertility and Sterility
Volumen	95
N.º	8
DOI	https://doi.org/10.1016/j.fertnstert.2011.04.045
Estado	Publicada - jun. 30 2011

ODS de las Naciones Unidas

Este resultado contribuye a los siguientes Objetivos de Desarrollo Sostenible

ODS 3: Salud y bienestar

Áreas temáticas de ASJC Scopus

Genética (clínica)

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Ojeda, D., Lakhal, B., Fonseca, D. J., Braham, R., Landolsi, H., Mateus, H. E., Restrepo, C. M., Elghezal, H., Saâd, A., & Laissue, P. (2011). Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype. Fertility and Sterility, 95(8), 2658-2660. Artículo e1. https://doi.org/10.1016/j.fertnstert.2011.04.045

@article{b4e4053b1d7949f589d00d25c66c971e,

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

abstract = "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.",

author = "Diego Ojeda and Besma Lakhal and Fonseca, \{Dora Janneth\} and Rim Braham and Hanne Landolsi and Mateus, \{Heidi Eliana\} and Restrepo, \{Carlos Mart{\'i}n\} and Hatem Elghezal and Ali Sa{\^a}d and Paul Laissue",

note = "{\textcopyright} 2011 by American Society for Reproductive Medicine.",

year = "2011",

month = jun,

day = "30",

doi = "10.1016/j.fertnstert.2011.04.045",

language = "English (US)",

volume = "95",

pages = "2658--2660",

journal = "Fertility and Sterility",

issn = "0015-0282",

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Ojeda, D, Lakhal, B, Fonseca, DJ, Braham, R, Landolsi, H, Mateus, HE, Restrepo, CM, Elghezal, H, Saâd, A & Laissue, P 2011, 'Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype', Fertility and Sterility, vol. 95, n.º 8, e1, pp. 2658-2660. https://doi.org/10.1016/j.fertnstert.2011.04.045

Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype. / Ojeda, Diego; Lakhal, Besma; Fonseca, Dora Janneth et al.
En: Fertility and Sterility, Vol. 95, N.º 8, e1, 30.06.2011, p. 2658-2660.

Producción científica: Contribución a revista › Artículo de Investigación › revisión exhaustiva

TY - JOUR

T1 - Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype

AU - Ojeda, Diego

AU - Lakhal, Besma

AU - Fonseca, Dora Janneth

AU - Braham, Rim

AU - Landolsi, Hanne

AU - Mateus, Heidi Eliana

AU - Restrepo, Carlos Martín

AU - Elghezal, Hatem

AU - Saâd, Ali

AU - Laissue, Paul

PY - 2011/6/30

Y1 - 2011/6/30

N2 - 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.

AB - 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.

U2 - 10.1016/j.fertnstert.2011.04.045

DO - 10.1016/j.fertnstert.2011.04.045

M3 - Research Article

SN - 0015-0282

VL - 95

SP - 2658

EP - 2660

JO - Fertility and Sterility

JF - Fertility and Sterility

IS - 8

M1 - e1

ER -

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

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