Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

[1]  Christian R Marshall,et al.  Contribution of SHANK3 mutations to autism spectrum disorder. , 2007, American journal of human genetics.

[2]  J. Crolla,et al.  Distribution of the D15Z1 copy number polymorphism , 2007, European Journal of Human Genetics.

[3]  R. Giorda,et al.  Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome , 2005, Journal of Medical Genetics.

[4]  Martijn A. R. Leisink,et al.  Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation , 2005, European Journal of Human Genetics.

[5]  L. Shaffer,et al.  Microduplication and triplication of 22q11.2: a highly variable syndrome. , 2005, American journal of human genetics.

[6]  C. Lundsteen,et al.  Further delineation of the 22q13 deletion syndrome , 2005, Clinical dysmorphology.

[7]  S. Schwartz,et al.  Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. , 2004, Pediatrics.

[8]  J. Graham,et al.  22q13 Deletion Syndrome: An Update and Review for the Primary Pediatrician , 2004, Clinical pediatrics.

[9]  L. Vallée,et al.  Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations , 2003, Journal of medical genetics.

[10]  H. McDermid,et al.  Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms , 2003, Journal of medical genetics.

[11]  E. Blennow,et al.  FISH-mapping of a 100-kb terminal 22q13 deletion , 2002, Human Genetics.

[12]  R. Borgatti,et al.  Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. , 2001, American journal of human genetics.

[13]  H. McDermid,et al.  22q13 deletion syndrome. , 2001, American journal of medical genetics.

[14]  J. Sambrook,et al.  Molecular Cloning: A Laboratory Manual , 2001 .

[15]  H. Kodama,et al.  Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2). , 2000, American journal of medical genetics.

[16]  T. Boeckers,et al.  Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP/GKAP family. , 1999, Biochemical and biophysical research communications.

[17]  B. Emanuel,et al.  Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints , 1998, Cytogenetic and Genome Research.

[18]  J. Dumanski,et al.  Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3. , 1994, American journal of human genetics.

[19]  A. Jeffreys,et al.  Systematic cloning of human minisatellites from ordered array charomid libraries. , 1990, Genomics.

[20]  D. Romain,et al.  Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter). , 1990, Journal of medical genetics.

[21]  G. Church,et al.  Genomic sequencing. , 1993, Methods in molecular biology.

[22]  Thomas Bourgeron,et al.  Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders , 2007, Nature Genetics.

[23]  D. Ledbetter,et al.  Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. , 1997, American journal of human genetics.