A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]

[1]  D. Galetzka,et al.  A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant] , 2013, Behavioral and Brain Functions.

[2]  E. Jabs,et al.  HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. , 2012, American journal of human genetics.

[3]  Masumi Takano-Maruyama,et al.  Differential contribution of Neurog1 and Neurog2 on the formation of cranial ganglia along the anterior‐posterior axis , 2012, Developmental dynamics : an official publication of the American Association of Anatomists.

[4]  E. Engle,et al.  Recent Progress in Understanding Congenital Cranial Dysinnervation Disorders , 2011, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

[5]  W. Wurst,et al.  Fgf15-mediated control of neurogenic and proneural gene expression regulates dorsal midbrain neurogenesis. , 2011, Developmental biology.

[6]  D. Swaab,et al.  Dendritic cell nuclear protein-1, a novel depression-related protein, upregulates corticotropin-releasing hormone expression. , 2010, Brain : a journal of neurology.

[7]  J. Terzis,et al.  Direct Tongue Neurotization: The Effect on Speech Intelligibility in Patients with Möbius Syndrome , 2010, Plastic and reconstructive surgery.

[8]  G. Schlosser.  Making senses development of vertebrate cranial placodes. , 2010, International review of cell and molecular biology.

[9]  J. Inoue,et al.  TRAF-interacting protein with a forkhead-associated domain B (TIFAB) is a negative regulator of the TRAF6-induced cellular functions. , 2009, Journal of biochemistry.

[10]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[11]  Cole Trapnell,et al.  Ultrafast and memory-efficient alignment of short DNA sequences to the human genome , 2009, Genome Biology.

[12]  T. Lehtimäki,et al.  Behavioral and Brain Functions , 2008 .

[13]  H. Shin,et al.  A promoter nucleotide variant of the dendritic cell-specific DCNP1 associates with serum IgE levels specific for dust mite allergens among the Korean asthmatics , 2007, Genes and Immunity.

[14]  J. Inoue,et al.  TIFAB inhibits TIFA, TRAF-interacting protein with a forkhead-associated domain. , 2004, Biochemical and biophysical research communications.

[15]  E. Engle,et al.  110th ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs) Naarden, The Netherlands, 25–27 October, 2002 , 2003, Neuromuscular Disorders.

[16]  J. Cruysberg,et al.  Möbius syndrome redefined , 2003, Neurology.

[17]  David J. Anderson,et al.  Neurogenin 1 Null Mutant Ears Develop Fewer, Morphologically Normal Hair Cells in Smaller Sensory Epithelia Devoid of Innervation , 2000, Journal of the Association for Research in Otolaryngology.

[18]  J. Graham,et al.  Congenital malformations of the ear and cochlear implantation in children: review and temporal bone report of common cavity , 2000, The Journal of Laryngology & Otology.

[19]  F. Guillemot,et al.  Neurogenin1 and neurogenin2 control two distinct waves of neurogenesis in developing dorsal root ganglia. , 1999, Genes & development.

[20]  F. Guillemot,et al.  The bHLH Protein NEUROGENIN 2 Is a Determination Factor for Epibranchial Placode–Derived Sensory Neurons , 1998, Neuron.

[21]  David J. Anderson,et al.  neurogenin1 Is Essential for the Determination of Neuronal Precursors for Proximal Cranial Sensory Ganglia , 1998, Neuron.

[22]  David J. Anderson,et al.  Identification of neurogenin, a Vertebrate Neuronal Determination Gene , 1996, Cell.

[23]  David J. Anderson,et al.  neurogenins,a Novel Family ofatonal-Related bHLH Transcription Factors, Are Putative Mammalian Neuronal Determination Genes That Reveal Progenitor Cell Heterogeneity in the Developing CNS and PNS , 1996, Molecular and Cellular Neuroscience.

[24]  J. Webb,et al.  Ectodermal Placodes Contributions to the Development of the Vertebrate Head , 1993 .

[25]  D. Taylor,et al.  Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'. , 1991, Journal of medical genetics.

[26]  W. Webster,et al.  The Moebius syndrome: aetiology, incidence of mental retardation, and genetics. , 1990, Journal of medical genetics.

[27]  G. Mazzilli,et al.  [Moebius' syndrome]. , 2019, Annali di ottalmologia e clinica oculistica.