De novo mutations in PLXND1 and REV3L cause Möbius syndrome

[1]  Stephan J Sanders,et al.  A framework for the interpretation of de novo mutation in human disease , 2014, Nature Genetics.

[2]  A. Mosig,et al.  Automatic counting and positioning of 5-bromo-2-deoxyuridine (BrdU) positive cells in cortical layers of rat brain slices. , 2014, Neurotoxicology.

[3]  D. Hunter,et al.  Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome. , 2014, Ophthalmology.

[4]  L. Vissers,et al.  Genome sequencing identifies major causes of severe intellectual disability , 2014, Nature.

[5]  E. Jabs,et al.  Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes. , 2014, Brain : a journal of neurology.

[6]  Steven J. M. Jones,et al.  Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. , 2013, American journal of human genetics.

[7]  D. Goldstein,et al.  Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes , 2013, PLoS genetics.

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

[9]  J. Frelinger,et al.  Plexin-B2 and Plexin-D1 in Dendritic Cells: Expression and IL-12/IL-23p40 Production , 2012, PloS one.

[10]  J. Veltman,et al.  De novo mutations in human genetic disease , 2012, Nature Reviews Genetics.

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

[12]  M. Buck,et al.  Plexin structures are coming: opportunities for multilevel investigations of semaphorin guidance receptors, their cell signaling mechanisms, and functions , 2012, Cellular and Molecular Life Sciences.

[13]  Marilyn Miller,et al.  Profile of ocular and systemic characteristics in Möbius sequence patients from Brazil and Italy. , 2012, Arquivos brasileiros de oftalmologia.

[14]  Christian Gilissen,et al.  Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan , 2012, Nature Genetics.

[15]  J. Sale Competition, collaboration and coordination – determining how cells bypass DNA damage , 2012, Journal of Cell Science.

[16]  R. Wood,et al.  DNA polymerase zeta is required for proliferation of normal mammalian cells , 2012, Nucleic acids research.

[17]  B. Sabatini,et al.  Semaphorin 3E–Plexin-D1 signaling controls pathway-specific synapse formation in the striatum , 2011, Nature Neuroscience.

[18]  S. Favilla,et al.  Ophthalmologic and systemic features in möbius syndrome an italian case series. , 2011, Ophthalmology.

[19]  A. Assaf Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs) , 2011, Eye.

[20]  Arthur W. Wetzel,et al.  Network anatomy and in vivo physiology of visual cortical neurons , 2011, Nature.

[21]  N. de Wind,et al.  Mammalian polymerase zeta is essential for post-replication repair of UV-induced DNA lesions. , 2009, DNA repair.

[22]  J. Bartek,et al.  The DNA-damage response in human biology and disease , 2009, Nature.

[23]  Thomas M. Jessell,et al.  Gating of Sema3E/PlexinD1 Signaling by Neuropilin-1 Switches Axonal Repulsion to Attraction during Brain Development , 2007, Neuron.

[24]  M. Noda,et al.  PlexinD1 deficiency induces defects in axial skeletal morphogenesis , 2007, Journal of cellular biochemistry.

[25]  W. Briegel Neuropsychiatric findings of Möbius sequence – a review , 2006, Clinical genetics.

[26]  E. Engle,et al.  Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development , 2005, Nature Genetics.

[27]  P. Carmeliet,et al.  Common mechanisms of nerve and blood vessel wiring , 2005, Nature.

[28]  E. Garrow,et al.  Poland-Möbius syndrome and cocaine abuse: a relook at vascular etiology. , 2005, Pediatric neurology.

[29]  H. T. ten Donkelaar,et al.  The neuropathology of hereditary congenital facial palsy vs Möbius syndrome , 2005, Neurology.

[30]  H. Brunner,et al.  Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients. , 2004, Pediatric neurology.

[31]  S. D. Fraser,et al.  Semaphorin-plexin signaling guides patterning of the developing vasculature. , 2004, Developmental cell.

[32]  J. Epstein,et al.  PlexinD1 and semaphorin signaling are required in endothelial cells for cardiovascular development. , 2004, Developmental cell.

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

[34]  H. Brunner,et al.  PLEXIN‐D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis , 2002, Developmental dynamics : an official publication of the American Association of Anatomists.

[35]  N. de Wind,et al.  Involvement of Mouse Rev3 in Tolerance of Endogenous and Exogenous DNA Damage , 2002, Molecular and Cellular Biology.

[36]  M. Pfaffl,et al.  A new mathematical model for relative quantification in real-time RT-PCR. , 2001, Nucleic acids research.

[37]  R. Camerini-Otero,et al.  The mouse Spo11 gene is required for meiotic chromosome synapsis. , 2000, Molecular cell.

[38]  À. Rovira,et al.  MRI findings in Möbius syndrome: Correlation with clinical features , 2000, Neurology.

[39]  M. Poo,et al.  Plexins Are a Large Family of Receptors for Transmembrane, Secreted, and GPI-Anchored Semaphorins in Vertebrates , 1999, Cell.

[40]  H. Kremer,et al.  A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family. , 1999, American journal of human genetics.

[41]  Z. Wang,et al.  A full-length cDNA of hREV3 is predicted to encode DNA polymerase zeta for damage-induced mutagenesis in humans. , 1999, Mutation research.

[42]  R. Krumlauf,et al.  Altered segmental identity and abnormal migration of motor neurons in mice lacking Hoxb-1 , 1996, Nature.

[43]  J. Leunissen,et al.  Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family. , 1996, Human molecular genetics.

[44]  F. Auclair,et al.  Rhombomere‐specific origin of branchial and visceral motoneurons of the facial nerve in the rat embryo , 1996, The Journal of comparative neurology.

[45]  R. Keynes,et al.  Segmental patterns of neuronal development in the chick hindbrain , 1989, Nature.

[46]  J. Opitz,et al.  Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. , 1986, American journal of medical genetics.

[47]  P. Nemet,et al.  Heterogeneity and pleiotropism in the Moebius syndrome , 1981, Clinical genetics.

[48]  A. Robinson,et al.  Three-generation pedigree of a Möbius syndrome variant with chromosome translocation. , 1977, Archives of neurology.

[49]  H. Kremer,et al.  Comparison of 12 Reference Genes for Normalization of Gene Expression Levels in Epstein-Barr Virus-Transformed Lymphoblastoid Cell Lines and Fibroblasts , 2012, Molecular Diagnosis & Therapy.

[50]  J. Epstein,et al.  Tie2Cre-mediated inactivation of plexinD1 results in congenital heart, vascular and skeletal defects. , 2009, Developmental biology.

[51]  Karl Theiler,et al.  The House Mouse: Atlas of Embryonic Development , 1972 .

[52]  P. Möbius Ueber angeborene doppelseitige Abducens-Facialis-Lähmung , 1888 .

[53]  A. Graefe,et al.  Handbuch der Gesammten Augenheilkunde , 1874 .