(Q77572380)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820031%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

review article

1 reference

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820031%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

author name string

J R Lupski

series ordinal

1

1 reference

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6 December 2019

publication date

1 October 1998

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6 December 2019

1 reference

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6 December 2019

volume

14

1 reference

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6 December 2019

issue

10

1 reference

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6 December 2019

page(s)

417-422

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A novel α-globin gene arrangement in man

6 December 2019

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7 January 2021

The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions

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7 January 2021

The barrier to recombination between Escherichia coli and Salmonella typhimurium is disrupted in mismatch-repair mutants

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7 January 2021

Molecular basis of human growth hormone gene deletions

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7 January 2021

Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats

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7 January 2021

Homologous unequal cross-over involving a 2.8 kb direct repeat as a mechanism for the generation of allelic variants of human cytochrome P450 CYP2D6 gene

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7 January 2021

Molecular genetics of inherited variation in human color vision

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7 January 2021

A chimaeric llβ-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension

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7 January 2021

Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B

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7 January 2021

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

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7 January 2021

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

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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

Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region

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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

Charcot-Marie-Tooth disease: a gene-dosage effect

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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

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

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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

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

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7 January 2021

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.

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7 January 2021

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent

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7 January 2021

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

1 reference

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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

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

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

Sex-dependent rearrangements resulting in CMT1A and HNPP.

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7 January 2021

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

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7 January 2021

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p

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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

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

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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

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin

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7 January 2021

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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

Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region

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7 January 2021

Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

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7 January 2021

Information provided by pairs of distantly affected relatives to search for genes involved in rare autosomal dominant diseases.

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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

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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

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

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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

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

1 reference

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7 January 2021

Molecular and phenotypic variation in patients with severe Hunter syndrome

1 reference

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7 January 2021

Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome.

1 reference

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7 January 2021

Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia

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7 January 2021

Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome

1 reference

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7 January 2021

Molecular keys to speciation: DNA polymorphism and the control of genetic exchange in enterobacteria

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7 January 2021

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

1 reference

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7 January 2021

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

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7 January 2021

Identification and characterization of a spinal muscular atrophy-determining gene

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7 January 2021

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

1 reference

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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

Emerin deletions occurring on both Xq28 inversion backgrounds

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7 January 2021

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

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7 January 2021

10.1016/S0168-9525(98)01555-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9820031%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference