CDKN1C Mutations and Genital Anomalies

被引：3
|
作者：
Welsh, Holly I. [1 ]
Stockley, Tracy L. [2 ,3 ]
Parkinson, Nicole [2 ,3 ]
Ardinger, Holly H. [1 ]
机构：
[1] Childrens Mercy Hosp & Clin, Genet Sect, Kansas City, MO 64114 USA
[2] Hosp Sick Children, Dept Paediat Lab Med, Toronto, ON M5G 1X8, Canada
[3] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 01期
关键词：
P57(KIP2);
D O I：
10.1002/ajmg.a.34388
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：265 / 265
页数：1
相关论文
共 50 条
  • [1] CDKN1C mutations: two sides of the same coin
    Eggermann, Thomas
    Binder, Gerhard
    Brioude, Frederic
    Maher, Eamonn R.
    Lapunzina, Pablo
    Cubellis, Maria Vittoria
    Bergada, Ignacio
    Prawitt, Dirk
    Begemann, Matthias
    TRENDS IN MOLECULAR MEDICINE, 2014, 20 (11) : 614 - 622
  • [2] Gain of function in CDKN1C
    Andrea Riccio
    Maria Vittoria Cubellis
    Nature Genetics, 2012, 44 : 737 - 738
  • [3] Looking for CDKN1C enhancers
    Cerrato, Flavia
    De Crescenzo, Agostina
    Riccio, Andrea
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (04) : 442 - 443
  • [4] Looking for CDKN1C enhancers
    Flavia Cerrato
    Agostina De Crescenzo
    Andrea Riccio
    European Journal of Human Genetics, 2014, 22 : 442 - 443
  • [5] Gain of function in CDKN1C
    Riccio, Andrea
    Cubellis, Maria Vittoria
    NATURE GENETICS, 2012, 44 (07) : 737 - 738
  • [6] Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome
    Hitomi Yatsuki
    Ken Higashimoto
    Kosuke Jozaki
    Kayoko Koide
    Junichiro Okada
    Yoriko Watanabe
    Nobuhiko Okamoto
    Yoshinobu Tsuno
    Yoko Yoshida
    Kazutoshi Ueda
    Kenji Shimizu
    Hirofumi Ohashi
    Tsunehiro Mukai
    Hidenobu Soejima
    Genes & Genomics, 2013, 35 : 141 - 147
  • [7] Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
    Valerie A Arboleda
    Hane Lee
    Rahul Parnaik
    Alice Fleming
    Abhik Banerjee
    Bruno Ferraz-de-Souza
    Emmanuèle C Délot
    Imilce A Rodriguez-Fernandez
    Debora Braslavsky
    Ignacio Bergadá
    Esteban C Dell'Angelica
    Stanley F Nelson
    Julian A Martinez-Agosto
    John C Achermann
    Eric Vilain
    Nature Genetics, 2012, 44 (7) : 788 - 792
  • [8] Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome
    Yatsuki, Hitomi
    Higashimoto, Ken
    Jozaki, Kosuke
    Koide, Kayoko
    Okada, Junichiro
    Watanabe, Yoriko
    Okamoto, Nobuhiko
    Tsuno, Yoshinobu
    Yoshida, Yoko
    Ueda, Kazutoshi
    Shimizu, Kenji
    Ohashi, Hirofumi
    Mukai, Tsunehiro
    Soejima, Hidenobu
    GENES & GENOMICS, 2013, 35 (02) : 141 - 147
  • [9] Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
    Arboleda, Valerie A.
    Lee, Hane
    Parnaik, Rahul
    Fleming, Alice
    Banerjee, Abhik
    Ferraz-de-Souza, Bruno
    Delot, Emmanuele C.
    Rodriguez-Fernandez, Imilce A.
    Braslavsky, Debora
    Bergada, Ignacio
    Dell'Angelica, Esteban C.
    Nelson, Stanley F.
    Martinez-Agosto, Julian A.
    Achermann, John C.
    Vilain, Eric
    NATURE GENETICS, 2012, 44 (07) : 788 - 792
  • [10] Analysis of CDKN1C in Beckwith Wiedemann Syndrome
    Algar, E
    Brickell, S
    Deeble, G
    Amor, D
    Smith, P
    HUMAN MUTATION, 2000, 15 (06) : 497 - 508
12345