Complex human chromosomal and genomic rearrangements.

[1]  Yong-shu He,et al.  [Structural variation in the human genome]. , 2009, Yi chuan = Hereditas.

[2]  E. Kirkness,et al.  Mobile elements create structural variation: analysis of a complete human genome. , 2009, Genome research.

[3]  M. Hurles,et al.  Copy number variation in human health, disease, and evolution. , 2009, Annual review of genomics and human genetics.

[4]  F. Lalatta,et al.  Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient. , 2009, European journal of medical genetics.

[5]  J. Lupski,et al.  The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans , 2009, Nature Genetics.

[6]  P. Stankiewicz,et al.  Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. , 2009, Human molecular genetics.

[7]  A. C. Chinault,et al.  Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. , 2009, Human molecular genetics.

[8]  J. Lupski,et al.  Genomic disorders ten years on , 2009, Genome Medicine.

[9]  S. Warren,et al.  Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants. , 2009, American journal of human genetics.

[10]  G. Voglino,et al.  De novo balanced chromosome rearrangements in prenatal diagnosis , 2009, Prenatal diagnosis.

[11]  A. Brice,et al.  A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson’s disease , 2009, neurogenetics.

[12]  K. Gunderson,et al.  Increased LIS1 expression affects human and mouse brain development , 2009, Nature Genetics.

[13]  J. Lupski,et al.  A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation , 2009, PLoS genetics.

[14]  S. Wilton,et al.  Characterization of a complex Duchenne muscular dystrophy–causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping , 2009, Human mutation.

[15]  E. Eichler,et al.  Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites. , 2009, Genome research.

[16]  L. Shaffer,et al.  Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report , 2009, Molecular Cytogenetics.

[17]  E. Blennow,et al.  Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion , 2008, American journal of medical genetics. Part A.

[18]  M. Batzer,et al.  L1 recombination-associated deletions generate human genomic variation , 2008, Proceedings of the National Academy of Sciences.

[19]  Hugo Y. K. Lam,et al.  Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history. , 2008, Genome research.

[20]  J. Lupski,et al.  Mechanisms for human genomic rearrangements , 2008, PathoGenetics.

[21]  L. Shaffer,et al.  Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13). , 2008, Genome research.

[22]  M. McVey,et al.  MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings. , 2008, Trends in genetics : TIG.

[23]  D. Higgs,et al.  A large deletion in the human alpha-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype. , 2008, Human molecular genetics.

[24]  Joshua M. Korn,et al.  Integrated detection and population-genetic analysis of SNPs and copy number variation , 2008, Nature Genetics.

[25]  J. Lupski,et al.  Schizophrenia: Incriminating genomic evidence , 2008, Nature.

[26]  P. Visscher,et al.  Rare chromosomal deletions and duplications increase risk of schizophrenia , 2008, Nature.

[27]  Thomas W. Mühleisen,et al.  Large recurrent microdeletions associated with schizophrenia , 2008, Nature.

[28]  E. Eichler,et al.  Systematic assessment of copy number variant detection via genome-wide SNP genotyping , 2008, Nature Genetics.

[29]  Romain Koszul,et al.  Segmental Duplications Arise from Pol32-Dependent Repair of Broken Forks through Two Alternative Replication-Based Mechanisms , 2008, PLoS genetics.

[30]  K. Mrasek,et al.  Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding , 2008, Molecular Cytogenetics.

[31]  Z. Ou,et al.  De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently “balanced” paracentric inversion of 14(q21q23) , 2008, American journal of medical genetics. Part A.

[32]  R. Capolino,et al.  Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality , 2008, Cytogenetic and Genome Research.

[33]  S. Mirkin,et al.  Replication stalling at unstable inverted repeats: Interplay between DNA hairpins and fork stabilizing proteins , 2008, Proceedings of the National Academy of Sciences.

[34]  C. Sismani,et al.  Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype , 2008, Molecular Cytogenetics.

[35]  P. Marynen,et al.  Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. , 2008, Genome research.

[36]  Jian-Min Chen The 10‐Mb paracentric inversion of chromosome arm 2p in activating MSH2 and causing hereditary nonpolyposis colorectal cancer: Re‐annotation and mutational mechanisms , 2008, Genes, chromosomes & cancer.

[37]  Matthew E Hurles,et al.  The functional impact of structural variation in humans. , 2008, Trends in genetics : TIG.

[38]  Joshua M. Korn,et al.  Mapping and sequencing of structural variation from eight human genomes , 2008, Nature.

[39]  J. Lupski,et al.  The complete genome of an individual by massively parallel DNA sequencing , 2008, Nature.

[40]  N. Carter,et al.  Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort. , 2008, American journal of human genetics.

[41]  N. Bresolin,et al.  A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia , 2008, Human mutation.

[42]  A. Tsalenko,et al.  The fine-scale and complex architecture of human copy-number variation. , 2008, American journal of human genetics.

[43]  Yu Wang,et al.  A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures , 2008, Nature Genetics.

[44]  Joshua M. Korn,et al.  Association between microdeletion and microduplication at 16p11.2 and autism. , 2008, The New England journal of medicine.

[45]  Peter Marynen,et al.  Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. , 2008, American journal of human genetics.

[46]  M. Lieber,et al.  The Mechanism of Human Nonhomologous DNA End Joining* , 2008, Journal of Biological Chemistry.

[47]  J. Lupski,et al.  A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders , 2007, Cell.

[48]  C. Morris,et al.  Double complex mutations involving F8 and FUNDC2 caused by distinct break‐induced replication , 2007, Human mutation.

[49]  S. Bulun,et al.  Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene. , 2007, Human molecular genetics.

[50]  Philip M. Kim,et al.  Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome , 2007, Science.

[51]  Zhaohui S. Qin,et al.  A second generation human haplotype map of over 3.1 million SNPs , 2007, Nature.

[52]  K. Boycott,et al.  Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis , 2007, Clinical dysmorphology.

[53]  N. Chuzhanova,et al.  Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X‐chromosomal rearrangements causing hemophilia A , 2007, Human mutation.

[54]  M. Batzer,et al.  Alu Recombination-Mediated Structural Deletions in the Chimpanzee Genome , 2007, PLoS genetics.

[55]  Timothy B. Stockwell,et al.  The Diploid Genome Sequence of an Individual Human , 2007, PLoS biology.

[56]  M. Fichera,et al.  Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients , 2007, Journal of Medical Genetics.

[57]  J. Haber,et al.  Break-induced replication and telomerase-independent telomere maintenance require Pol32 , 2007, Nature.

[58]  Pawel Stankiewicz,et al.  Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. , 2007, Current opinion in genetics & development.

[59]  R. Wells,et al.  Non-B DNA conformations, mutagenesis and disease. , 2007, Trends in biochemical sciences.

[60]  L. Symington,et al.  Template switching during break-induced replication , 2007, Nature.

[61]  R. Pfundt,et al.  Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies , 2007, Human Genetics.

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

[63]  P. Patsalis Complex chromosomal rearrangements. , 2007, Genetic counseling.

[64]  M. Qumsiyeh,et al.  Karyotype–phenotype insights from 11q14.1‐q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement , 2006, American journal of medical genetics. Part A.

[65]  P. Kuo,et al.  Constitutional complex chromosomal rearrangements in azoospermic men--case report and literature review. , 2006, Urology.

[66]  D. Conrad,et al.  Global variation in copy number in the human genome , 2006, Nature.

[67]  J. Lupski,et al.  Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders , 2006, Neuron.

[68]  Matthew D. Dyer,et al.  Human genomic deletions mediated by recombination between Alu elements. , 2006, American journal of human genetics.

[69]  J. Julian Blow,et al.  Live-Cell Imaging Reveals Replication of Individual Replicons in Eukaryotic Replication Factories , 2006, Cell.

[70]  L. Ballarati,et al.  Prenatal diagnosis of a de novo complex chromosome rearrangement (CCR) mediated by six breakpoints, and a review of 20 prenatally ascertained CCRs , 2006, Prenatal diagnosis.

[71]  S. Rosenberg,et al.  On the Mechanism of Gene Amplification Induced under Stress in Escherichia coli , 2006, PLoS genetics.

[72]  C. Sommer,et al.  Identification of Alu elements mediating a partial PMP22 deletion , 2006, Neurogenetics.

[73]  D. Conrad,et al.  A high-resolution survey of deletion polymorphism in the human genome , 2006, Nature Genetics.

[74]  Pawel Stankiewicz,et al.  Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes , 2005, PLoS genetics.

[75]  P. Stenson,et al.  Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions , 2005, Human mutation.

[76]  W. Foulkes,et al.  Novel genomic insertion–deletion in MLH1: possible mechanistic role for non‐homologous end‐joining DNA repair , 2005, Clinical genetics.

[77]  P. Stenson,et al.  Complex gene rearrangements caused by serial replication slippage , 2005, Human mutation.

[78]  K. Woodward,et al.  Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. , 2005, Brain : a journal of neurology.

[79]  B. Rovin,et al.  The Influence of CCL 3 L 1 Gene – Containing Segmental Duplications on HIV-1 / AIDS Susceptibility , 2009 .

[80]  Peter D Stenson,et al.  Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage , 2005, Human mutation.

[81]  Wen-Hsiung Li,et al.  Patterns of segmental duplication in the human genome. , 2004, Molecular biology and evolution.

[82]  M. Olivier A haplotype map of the human genome. , 2003, Nature.

[83]  M. Olivier A haplotype map of the human genome , 2003, Nature.

[84]  J. Lupski,et al.  Chapter 70 – Hereditary Motor and Sensory Neuropathies Involving Altered Dosage or Mutation of PMP22: The CMT1A Duplication and HNPP Deletion , 2005 .

[85]  D. Kleinjan,et al.  Long-range control of gene expression: emerging mechanisms and disruption in disease. , 2005, American journal of human genetics.

[86]  L. Feuk,et al.  Detection of large-scale variation in the human genome , 2004, Nature Genetics.

[87]  Kenny Q. Ye,et al.  Large-Scale Copy Number Polymorphism in the Human Genome , 2004, Science.

[88]  J. Lupski,et al.  Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. , 2004, Human molecular genetics.

[89]  G. Mortier,et al.  Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: Delineation of 7q21.11 breakpoints , 2004, American journal of medical genetics. Part A.

[90]  J. Lupski,et al.  Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms , 2004, Human Genetics.

[91]  S. Schwartz,et al.  Delineation of complex chromosomal rearrangements: evidence for increased complexity , 2004, Human Genetics.

[92]  L. Shaffer,et al.  Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution. , 2003, Genome research.

[93]  E. Eichler,et al.  An Alu transposition model for the origin and expansion of human segmental duplications. , 2003, American journal of human genetics.

[94]  R. Stevenson,et al.  Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome , 2002, European Journal of Human Genetics.

[95]  L. Shaffer,et al.  Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. , 2002, American journal of human genetics.

[96]  P. Stankiewicz,et al.  Genome architecture, rearrangements and genomic disorders. , 2002, Trends in genetics : TIG.

[97]  J. Lupski Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. , 1998, Trends in genetics : TIG.

[98]  M. Eswara,et al.  De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: report and review. , 1998, American journal of medical genetics.

[99]  C. Connelly,et al.  "Break copy" duplication: a model for chromosome fragment formation in Saccharomyces cerevisiae. , 1997, Genetics.

[100]  A. Nieuwint,et al.  Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations , 1997, Human Genetics.

[101]  S. Warren,et al.  Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats , 1997, Nature Genetics.

[102]  D. Ledbetter,et al.  Multicolor Spectral Karyotyping of Human Chromosomes , 1996, Science.

[103]  D. Ward,et al.  Karyotyping human chromosomes by combinatorial multi-fluor FISH , 1996, Nature Genetics.

[104]  J. A. Halliday,et al.  Inversions with deletions and duplications. , 1995, Genetics.

[105]  D. Batista,et al.  Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. , 1994, American journal of medical genetics.

[106]  D. Warburton,et al.  De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. , 1991, American journal of human genetics.

[107]  R. Liskay,et al.  Dependence of intrachromosomal recombination in mammalian cells on uninterrupted homology , 1988, Molecular and cellular biology.

[108]  J. Nathans,et al.  Molecular genetics of inherited variation in human color vision. , 1986, Science.

[109]  B. Migeon,et al.  Complex chromosome rearrangements:Report of a new case and literature review , 1980, Clinical genetics.

[110]  W. Gilbert Why genes in pieces? , 1978, Nature.

[111]  Dr. Susumu Ohno Evolution by Gene Duplication , 1970, Springer Berlin Heidelberg.