Literature DB >> 22258524

Questionable pathogenicity of FOXG1 duplication.

David J Amor, Trent Burgess, Tiong Y Tan, Mark D Pertile.   

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Year:  2012        PMID： 22258524      PMCID： PMC3355262          DOI： 10.1038/ejhg.2011.267

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  8 in total

1.  Foxg1 suppresses early cortical cell fate.

Authors:  Carina Hanashima; Suzanne C Li; Lijian Shen; Eseng Lai; Gord Fishell
Journal:  Science       Date:  2004-01-02       Impact factor: 47.728

2.  Multiplex ligation-dependent probe amplification using a completely synthetic probe set.

Authors:  Rowena F Stern; Roland G Roberts; Kathy Mann; Shu C Yau; Jonathan Berg; Caroline Mackie Ogilvie
Journal:  Biotechniques       Date:  2004-09       Impact factor: 1.993

3.  4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.

Authors:  Alison Yeung; Damien Bruno; Ingrid E Scheffer; Daniel Carranza; Trent Burgess; Howard R Slater; David J Amor
Journal:  Eur J Med Genet       Date:  2009-09-20       Impact factor: 2.708

4.  West syndrome associated with 14q12 duplications harboring FOXG1.

Authors:  P Striano; R Paravidino; F Sicca; P Chiurazzi; S Gimelli; A Coppola; A Robbiano; M Traverso; M Pintaudi; S Giovannini; F Operto; P Vigliano; T Granata; G Coppola; A Romeo; N Specchio; L Giordano; L R Osborne; G Gimelli; C Minetti; F Zara
Journal:  Neurology       Date:  2011-05-03       Impact factor: 9.910

5.  High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Authors:  Tamim H Shaikh; Xiaowu Gai; Juan C Perin; Joseph T Glessner; Hongbo Xie; Kevin Murphy; Ryan O'Hara; Tracy Casalunovo; Laura K Conlin; Monica D'Arcy; Edward C Frackelton; Elizabeth A Geiger; Chad Haldeman-Englert; Marcin Imielinski; Cecilia E Kim; Livija Medne; Kiran Annaiah; Jonathan P Bradfield; Elvira Dabaghyan; Andrew Eckert; Chioma C Onyiah; Svetlana Ostapenko; F George Otieno; Erin Santa; Julie L Shaner; Robert Skraban; Ryan M Smith; Josephine Elia; Elizabeth Goldmuntz; Nancy B Spinner; Elaine H Zackai; Rosetta M Chiavacci; Robert Grundmeier; Eric F Rappaport; Struan F A Grant; Peter S White; Hakon Hakonarson
Journal:  Genome Res       Date:  2009-07-10       Impact factor: 9.043

6.  West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.

Authors:  Jun Tohyama; Toshiyuki Yamamoto; Kana Hosoki; Keisuke Nagasaki; Noriyuki Akasaka; Tsukasa Ohashi; Yu Kobayashi; Shinji Saitoh
Journal:  Am J Med Genet A       Date:  2011-09-09       Impact factor: 2.802

7.  Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

Authors:  Nicola Brunetti-Pierri; Alex R Paciorkowski; Roberto Ciccone; Erika Della Mina; Maria Clara Bonaglia; Renato Borgatti; Christian P Schaaf; V Reid Sutton; Zhilian Xia; Naftha Jelluma; Claudia Ruivenkamp; Mary Bertrand; Thomy J L de Ravel; Parul Jayakar; Serena Belli; Katia Rocchetti; Chiara Pantaleoni; Stefano D'Arrigo; Jeff Hughes; Sau Wai Cheung; Orsetta Zuffardi; Pawel Stankiewicz
Journal:  Eur J Hum Genet       Date:  2010-08-25       Impact factor: 4.246

8.  FOXG1 is responsible for the congenital variant of Rett syndrome.

Authors:  Francesca Ariani; Giuseppe Hayek; Dalila Rondinella; Rosangela Artuso; Maria Antonietta Mencarelli; Ariele Spanhol-Rosseto; Marzia Pollazzon; Sabrina Buoni; Ottavia Spiga; Sara Ricciardi; Ilaria Meloni; Ilaria Longo; Francesca Mari; Vania Broccoli; Michele Zappella; Alessandra Renieri
Journal:  Am J Hum Genet       Date:  2008-06-19       Impact factor: 11.025
  8 in total
  6 in total

1.  Do regulatory regions matter in FOXG1 duplications?

Authors:  Antonio Falace; Nicola Vanni; Antonello Mallamaci; Pasquale Striano; Federico Zara
Journal:  Eur J Hum Genet       Date:  2012-07-04       Impact factor: 4.246

2.  14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

Authors:  Lila Allou; Laetitia Lambert; Daniel Amsallem; Eric Bieth; Patrick Edery; Anne Destrée; François Rivier; David Amor; Elizabeth Thompson; Julian Nicholl; Michael Harbord; Christophe Nemos; Aline Saunier; Aissa Moustaïne; Adeline Vigouroux; Philippe Jonveaux; Christophe Philippe
Journal:  Eur J Hum Genet       Date:  2012-06-27       Impact factor: 4.246

3.  Regulatory variants of FOXG1 in the context of its topological domain organisation.

Authors:  Mana M Mehrjouy; Ana Carolina S Fonseca; Nadja Ehmke; Giorgio Paskulin; Antonio Novelli; Francesco Benedicenti; Maria Antonietta Mencarelli; Alessandra Renieri; Tiffany Busa; Chantal Missirian; Claus Hansen; Kikue Terada Abe; Carlos Eduardo Speck-Martins; Angela M Vianna-Morgante; Mads Bak; Niels Tommerup
Journal:  Eur J Hum Genet       Date:  2017-12-30       Impact factor: 4.246

4.  14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

Authors:  Carolyn J Ellaway; Gladys Ho; Elisa Bettella; Alisa Knapman; Felicity Collins; Anna Hackett; Fiona McKenzie; Artur Darmanian; Gregory B Peters; Kerry Fagan; John Christodoulou
Journal:  Eur J Hum Genet       Date:  2012-09-12       Impact factor: 4.246

5.  Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

Authors:  Christophe Goubau; Koen Devriendt; Nathalie Van der Aa; An Crepel; Dagmar Wieczorek; Tjitske Kleefstra; Marjolein H Willemsen; Anita Rauch; Andreas Tzschach; Thomy de Ravel; Peter Leemans; Chris Van Geet; Gunnar Buyse; Kathleen Freson
Journal:  Eur J Hum Genet       Date:  2013-05-01       Impact factor: 4.246

6.  Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.

Authors:  Avinash V Dharmadhikari; Tomasz Gambin; Przemyslaw Szafranski; Wenjian Cao; Frank J Probst; Weihong Jin; Ping Fang; Krzysztof Gogolewski; Anna Gambin; Jaya K George-Abraham; Sailaja Golla; Francoise Boidein; Benedicte Duban-Bedu; Bruno Delobel; Joris Andrieux; Kerstin Becker; Elke Holinski-Feder; Sau Wai Cheung; Pawel Stankiewicz
Journal:  BMC Med Genet       Date:  2014-12-04       Impact factor: 2.103
  6 in total

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