FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome

Takahashi S, Matsumoto N, Okayama A, Suzuki N, Araki A, Okajima K, Tanaka H, Miyamoto A. FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome.

[1]  O. Sans-Capdevila,et al.  FOXG1, un nuevo gen responsable de la forma congénita del síndrome de Rett , 2011 .

[2]  D. Horn,et al.  The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis , 2011, Journal of Medical Genetics.

[3]  F. Rivier,et al.  A missense mutation within the fork‐head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization , 2011, Human mutation.

[4]  M. Pineda,et al.  [FOXG1, a new gene responsible for the congenital form of Rett syndrome]. , 2011, Revista de neurologia.

[5]  N. Boddaert,et al.  A FOXG1 mutation in a boy with congenital variant of Rett syndrome , 2011, neurogenetics.

[6]  W. Kaufmann,et al.  Rett syndrome: Revised diagnostic criteria and nomenclature , 2010, Annals of neurology.

[7]  N. Boddaert,et al.  Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant , 2010, neurogenetics.

[8]  V. Ramaswamy,et al.  Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature , 2009, European Journal of Human Genetics.

[9]  C. Philippe,et al.  Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females , 2009, Journal of Medical Genetics.

[10]  J. Armstrong,et al.  Novel FOXG1 mutations associated with the congenital variant of Rett syndrome , 2009, Journal of Medical Genetics.

[11]  R. Pfundt,et al.  14q12 Microdeletion syndrome and congenital variant of Rett syndrome. , 2009, European journal of medical genetics.

[12]  Alessandra Renieri,et al.  FOXG1 is responsible for the congenital variant of Rett syndrome. , 2008, American journal of human genetics.

[13]  E. Ahrens,et al.  Disruption of Foxg1 expression by knock-in of Cre recombinase: Effects on the development of the mouse telencephalon , 2007, Neuroscience.

[14]  Z. Tümer,et al.  Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features , 2006, American journal of medical genetics. Part A.

[15]  John T. Dimos,et al.  The timing of cortical neurogenesis is encoded within lineages of individual progenitor cells , 2006, Nature Neuroscience.

[16]  N. Tommerup,et al.  Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly , 2005, Human Genetics.

[17]  Gord Fishell,et al.  Foxg1 Suppresses Early Cortical Cell Fate , 2004, Science.

[18]  F. Latif,et al.  Rett syndrome and the MECP2 gene , 2001, Journal of medical genetics.

[19]  Stefano Stifani,et al.  The Winged-Helix Protein Brain Factor 1 Interacts with Groucho and Hes Proteins To Repress Transcription , 2001, Molecular and Cellular Biology.

[20]  H. Zoghbi,et al.  Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 , 1999, Nature Genetics.

[21]  S. Xuan,et al.  Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres , 1995, Neuron.

[22]  B. Hagberg,et al.  Rett variants: a suggested model for inclusion criteria. , 1994, Pediatric neurology.