Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area

[1]  A. Beaudet Autism: highly heritable but not inherited , 2007, Nature Medicine.

[2]  Kenny Q. Ye,et al.  Strong Association of De Novo Copy Number Mutations with Autism , 2007, Science.

[3]  K. Devriendt,et al.  Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism , 2007, European Journal of Human Genetics.

[4]  N. C. Schanen,et al.  Epigenetics of autism spectrum disorders. , 2006, Human molecular genetics.

[5]  E. Hatchwell,et al.  Autism and environmental genomics. , 2006, Neurotoxicology.

[6]  R Redon,et al.  Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders , 2006, Journal of Medical Genetics.

[7]  B. Crespi,et al.  Imbalanced genomic imprinting in brain development: an evolutionary basis for the aetiology of autism , 2006, Journal of evolutionary biology.

[8]  T. Bourgeron,et al.  Searching for ways out of the autism maze: genetic, epigenetic and environmental clues , 2006, Trends in Neurosciences.

[9]  D. Geschwind,et al.  Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families , 2006, Annals of neurology.

[10]  S. Scholnick,et al.  Epigenetic inactivation and aberrant transcription of CSMD1 in squamous cell carcinoma cell lines , 2005, Cancer Cell International.

[11]  P. Stankiewicz,et al.  Position effects due to chromosome breakpoints that map ∼900 Kb upstream and ∼1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia , 2005 .

[12]  K. Reddy Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder , 2005, BMC Medical Genetics.

[13]  Chun Li,et al.  Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates , 2005, BMC Medical Genetics.

[14]  J. Sutcliffe,et al.  A linkage disequilibrium map of the 1‐Mb 15q12 GABAA receptor subunit cluster and association to autism , 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[15]  A. Christiano,et al.  Fishing for new genes in skin biology: impact of cytogenetics on gene discovery , 2004, Clinical genetics.

[16]  K. Devriendt,et al.  Chromosomal Anomalies in Individuals with Autism , 2004, Autism : the international journal of research and practice.

[17]  Jing Liu,et al.  Association between the FOXP2 gene and autistic disorder in Chinese population , 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[18]  I. Rapin,et al.  The genetics of autism. , 2004, Pediatrics.

[19]  F. Serajee,et al.  Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism , 2003, Journal of medical genetics.

[20]  S. Spence,et al.  A genomewide screen of 345 families for autism-susceptibility loci. , 2003, American journal of human genetics.

[21]  S. Minoshima,et al.  A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1. , 2003, Biochemical and biophysical research communications.

[22]  Wei Ling Lau,et al.  Identification of two new members of the CSMD gene family. , 2003, Genomics.

[23]  M. Lin,et al.  Cell surface antigen CD109 is a novel member of the alpha(2) macroglobulin/C3, C4, C5 family of thioester-containing proteins. , 2002, Blood.

[24]  M. Lauritsen,et al.  The genetics of autism , 2001, Acta psychiatrica Scandinavica.

[25]  D. Schlessinger,et al.  The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome , 2001, Nature Genetics.

[26]  Peter J. van der Spek,et al.  A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases , 1999, Nature Genetics.

[27]  Toshihiro Tanaka,et al.  Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. , 1999, American journal of human genetics.

[28]  Christopher Gillberg,et al.  Genome-Wide Scan for Autism Susceptibility Genes , 1999 .

[29]  V. van Heyningen,et al.  Position effect in human genetic disease. , 1998, Human molecular genetics.

[30]  M. Bornens,et al.  Identification of a new mammalian centrin gene, more closely related to Saccharomyces cerevisiae CDC31 gene. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[31]  P. Bolton,et al.  Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene. , 1997, Human molecular genetics.

[32]  C. Bucana,et al.  Control of mouse cardiac morphogenesis and myogenesis by transcription factor MEF2C. , 1997, Science.

[33]  R. Burgeson,et al.  Complete Primary Structure of Two Splice Variants of Collagen XII, and Assignment of α1(XII) Collagen (COL12A1), α1(IX) Collagen (COL9A1), and α1(XIX) Collagen (COL19A1) to Human Chromosome 6q12–q13 , 1997 .

[34]  S. Lipton,et al.  MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[35]  C. Freitag,et al.  The genetics of autistic disorders and its clinical relevance: a review of the literature , 2007, Molecular Psychiatry.

[36]  H. Engeland,et al.  Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism , 2006, Molecular Psychiatry.

[37]  R. Hennekam,et al.  Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I , 2000, Nature Genetics.

[38]  R. Burgeson,et al.  Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13. , 1997, Genomics.

[39]  D. Schlessinger,et al.  Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed. , 1996, American journal of human genetics.

[40]  E. Haan,et al.  Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. , 1995, Human molecular genetics.