Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes
暂无分享,去创建一个
[1] D. Conrad,et al. Global variation in copy number in the human genome , 2006, Nature.
[2] D. Collier,et al. Association study of CHRFAM7A copy number and 2bp deletion polymorphisms with schizophrenia and bipolar affective disorder , 2006, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
[3] Andrew J Sharp,et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome , 2006, Nature Genetics.
[4] E. Eichler,et al. Primate segmental duplications: crucibles of evolution, diversity and disease , 2006, Nature Reviews Genetics.
[5] Sinead B. O'Leary,et al. Analysis of the DNA sequence and duplication history of human chromosome 15 , 2006, Nature.
[6] C. Shaw,et al. Array‐based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements , 2005, American journal of medical genetics. Part A.
[7] Pawel Stankiewicz,et al. Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes , 2005, PLoS genetics.
[8] A. Battaglia. The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder , 2005, Brain and Development.
[9] E. Eichler,et al. Segmental duplications and copy-number variation in the human genome. , 2005, American journal of human genetics.
[10] H. Willard,et al. Analysis of the centromeric regions of the human genome assembly. , 2004, Trends in genetics : TIG.
[11] N. C. Schanen,et al. High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage. , 2004, American journal of human genetics.
[12] Kenny Q. Ye,et al. Large-Scale Copy Number Polymorphism in the Human Genome , 2004, Science.
[13] E. Eichler,et al. BAC microarray analysis of 15q11–q13 rearrangements and the impact of segmental duplications , 2004, Journal of Medical Genetics.
[14] S. Tsai,et al. Association study of the human partially duplicated α7 nicotinic acetylcholine receptor genetic variant with bipolar disorder , 2004, Neuroscience Letters.
[15] J. Crolla,et al. Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity. , 2003, American journal of human genetics.
[16] E. Eichler,et al. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. , 2003, American journal of human genetics.
[17] Xavier Estivill,et al. Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. , 2003, Human molecular genetics.
[18] P. Stankiewicz,et al. Molecular-evolutionary mechanisms for genomic disorders. , 2002, Current opinion in genetics & development.
[19] D. Ledbetter,et al. Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q , 2002, Journal of medical genetics.
[20] D. Collier,et al. A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14. , 2002, Genomics.
[21] P. Bolton,et al. The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. , 2001, American journal of medical genetics.
[22] M. Alda,et al. Mapping susceptibility genes for bipolar disorder: a pharmacogenetic approach based on excellent response to lithium , 2001, Molecular Psychiatry.
[23] S. Schwartz,et al. Isolation and molecular analysis of inv dup(15) and construction of a physical map of a common breakpoint in order to elucidate their mechanism of formation , 2000, Chromosoma.
[24] D. Bertrand,et al. Neuronal nicotinic acetylcholine receptors: from the gene to the disease , 2000, Behavioural Brain Research.
[25] R. Murray,et al. Haplotype transmission disequilibrium and evidence for linkage of the CHRNA7 gene region to schizophrenia in Southern African Bantu families. , 2000, American journal of medical genetics.
[26] H. Stassen,et al. Schizophrenia and smoking: evidence for a common neurobiological basis? , 2000, American journal of medical genetics.
[27] C. Wadelius,et al. Centrotemporal spikes in families with rolandic epilepsy , 1998, Neurology.
[28] G. Repetto,et al. Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization. , 1998, American journal of medical genetics.
[29] J. Gault,et al. Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7). , 1998, Genomics.
[30] M. Mattéi,et al. A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications. , 1998, Human molecular genetics.
[31] C. Robert Cloninger,et al. Further investigation of a chromosome 15 locus in schizophrenia: analysis of affected sibpairs from the NIMH Genetics Initiative. , 1998, American journal of medical genetics.
[32] T. Matise,et al. NIMH Genetics Initiative Millenium Schizophrenia Consortium: linkage analysis of African-American pedigrees. , 1998, American journal of medical genetics.
[33] S. Schwartz,et al. Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15. , 1998, American journal of human genetics.
[34] J. Barber,et al. Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. , 1997, American journal of human genetics.
[35] D. Curtis,et al. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. , 1997, Human molecular genetics.
[36] D. Ledbetter,et al. Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome. , 1997, American journal of human genetics.
[37] L Kruglyak,et al. Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. , 1997, Proceedings of the National Academy of Sciences of the United States of America.
[38] J. Crolla,et al. Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis , 1995, Human Genetics.
[39] E. Zackai,et al. Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. , 1994, American journal of human genetics.
[40] S. Latt,et al. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. , 1989, American journal of medical genetics.
[41] A. Olincy,et al. Diminished suppression of the P50 auditory evoked potential in bipolar disorder subjects with a history of psychosis. , 2005, The American journal of psychiatry.
[42] G. Spowart,et al. Forty four probands with an additional “marker” chromosome , 2004, Human Genetics.
[43] M. Gratacós,et al. Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26. , 2001, Genome research.
[44] D. Ledbetter,et al. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients. , 1995, American journal of human genetics.