Literature DB >> 29904113

A commentary on a case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.

Eraldo Fonseca Dos Santos-Junior1, João Ricardo Mendes de Oliveira2.   

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Year:  2018        PMID: 29904113     DOI: 10.1038/s10038-018-0475-2

Source DB:  PubMed          Journal:  J Hum Genet        ISSN: 1434-5161            Impact factor:   3.172


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  6 in total

1.  Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

Authors:  Adi Aran; Nuphar Rosenfeld; Ranit Jaron; Paul Renbaum; Shachar Zuckerman; Hila Fridman; Sharon Zeligson; Reeval Segel; Yoav Kohn; Lara Kamal; Moien Kanaan; Yoram Segev; Eyal Mazaki; Ron Rabinowitz; Ori Shen; Ming Lee; Tom Walsh; Mary Claire King; Suleyman Gulsuner; Ephrat Levy-Lahad
Journal:  Neurology       Date:  2016-04-29       Impact factor: 9.910

2.  Protocadherin-12 deficiency leads to modifications in the structure and function of arteries in mice.

Authors:  C Philibert; S Bouillot; P Huber; G Faury
Journal:  Pathol Biol (Paris)       Date:  2011-12-26

Review 3.  Non-clustered protocadherin.

Authors:  Soo-Young Kim; Shin Yasuda; Hidekazu Tanaka; Kanato Yamagata; Hyun Kim
Journal:  Cell Adh Migr       Date:  2011-03-01       Impact factor: 3.405

4.  A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.

Authors:  Sato Suzuki-Muromoto; Keisuke Wakusawa; Takuya Miyabayashi; Ryo Sato; Yukimune Okubo; Wakaba Endo; Takehiko Inui; Noriko Togashi; Atsuko Kato; Hiroshi Oba; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto; Kazuhiro Haginoya
Journal:  J Hum Genet       Date:  2018-03-19       Impact factor: 3.172

5.  Protocadherin 12 deficiency alters morphogenesis and transcriptional profile of the placenta.

Authors:  Christine Rampon; Stéphanie Bouillot; Adriana Climescu-Haulica; Marie-Hélène Prandini; Francine Cand; Yves Vandenbrouck; Philippe Huber
Journal:  Physiol Genomics       Date:  2008-05-13       Impact factor: 3.107

6.  Brain calcifications and PCDH12 variants.

Authors:  Gaël Nicolas; Monica Sanchez-Contreras; Eliana Marisa Ramos; Roberta R Lemos; Joana Ferreira; Denis Moura; Maria J Sobrido; Anne-Claire Richard; Alma Rosa Lopez; Andrea Legati; Jean-François Deleuze; Anne Boland; Olivier Quenez; Pierre Krystkowiak; Pascal Favrole; Daniel H Geschwind; Adi Aran; Reeval Segel; Ephrat Levy-Lahad; Dennis W Dickson; Giovanni Coppola; Rosa Rademakers; João R M de Oliveira
Journal:  Neurol Genet       Date:  2017-07-26
  6 in total

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