(Q34389505)

1 August 2017

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title

Segmental duplications: an 'expanding' role in genomic instability and disease (English)

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1 August 2017

Emanuel BS

1

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1 August 2017

Shaikh TH

series ordinal

2

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1 August 2017

publication date

1 October 2001

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1 August 2017

published in

Nature Reviews Genetics

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1 August 2017

volume

2

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1 August 2017

issue

10

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1 August 2017

page(s)

791-800

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Pathological consequences of sequence duplications in the human genome

1 August 2017

cites work

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7 January 2021

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

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7 January 2021

Structure of chromosomal duplicons and their role in mediating human genomic disorders

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7 January 2021

Initial sequencing and analysis of the human genome

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7 January 2021

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review

1 reference

7 January 2021

Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution

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7 January 2021

Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity

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7 January 2021

Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition

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7 January 2021

Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes

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7 January 2021

Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome

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7 January 2021

Recombination hot spots and human disease

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7 January 2021

Molecular mechanisms for constitutional chromosomal rearrangements in humans

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7 January 2021

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

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7 January 2021

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

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7 January 2021

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

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7 January 2021

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

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7 January 2021

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

1 reference

7 January 2021

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

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7 January 2021

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

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7 January 2021

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

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7 January 2021

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

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7 January 2021

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

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7 January 2021

A common molecular basis for rearrangement disorders on chromosome 22q11

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7 January 2021

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

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7 January 2021

The DNA sequence of human chromosome 22

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7 January 2021

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families

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7 January 2021

A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation

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7 January 2021

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).

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7 January 2021

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

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7 January 2021

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

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7 January 2021

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

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7 January 2021

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

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7 January 2021

Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements

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7 January 2021

Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome

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7 January 2021

A human sex-chromosomal gene family expressed in male germ cells and encoding variably charged proteins

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7 January 2021

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

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7 January 2021

Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions

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7 January 2021

A third neurofibromatosis type 1 (NF1) pseudogene at chromosome 15q11.2.

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7 January 2021

AT-rich palindromes mediate the constitutional t(11;22) translocation.

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7 January 2021

The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

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7 January 2021

Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human

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7 January 2021

Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.

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7 January 2021

Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).

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7 January 2021

Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot

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7 January 2021

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

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7 January 2021

Recombination hotspot in NF1 microdeletion patients

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7 January 2021

Fluorescence in situ hybridization analysis of keratinocyte growth factor gene amplification and dispersion in evolution of great apes and humans

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7 January 2021

Molecular evolution of the CMT1A-REP region: a human- and chimpanzee-specific repeat

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7 January 2021

Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation.

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7 January 2021

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization

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7 January 2021

Cloning and comparative mapping of the DiGeorge syndrome critical region in the mouse.

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7 January 2021

Sequence-ready physical map of the mouse chromosome 16 region with conserved synteny to the human velocardiofacial syndrome region on 22q11.2.

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7 January 2021

Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis

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7 January 2021

Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase

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7 January 2021

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses

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7 January 2021

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

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7 January 2021

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome

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7 January 2021

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

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7 January 2021

Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion

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7 January 2021

Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome

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7 January 2021

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

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7 January 2021

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

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7 January 2021

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

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7 January 2021

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

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7 January 2021

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

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7 January 2021

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

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7 January 2021

Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization

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7 January 2021

A fluorescent in situ hybridization analysis of X chromosome pairing in early human female meiosis

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7 January 2021

Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

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7 January 2021

Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

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7 January 2021

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

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7 January 2021

Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere

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7 January 2021

Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation

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7 January 2021

A deletion in chromosome 22 can cause DiGeorge syndrome

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7 January 2021

Lethal multiple pterygium syndrome: Importance of fetal physical examination

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7 January 2021

Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2).

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7 January 2021

Sex-dependent rearrangements resulting in CMT1A and HNPP.

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7 January 2021

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

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7 January 2021

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

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7 January 2021

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

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7 January 2021

Association of a mosaic chromosomal 22q 11 deletion with hypoplastic left heart syndrome

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7 January 2021

Identifiers

DOI

10.1038/35093500

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Dimensions Publication ID

1 August 2017

1029953644

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