(Q73598842)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837273%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23 (English)

1 reference

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5 November 2019

9

Norio Niikawa

1 reference

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5 November 2019

author name string

Hirobumi Sugawara

1

1 reference

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5 November 2019

Naoki Harada

2

1 reference

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5 November 2019

Tomoko Ida

3

1 reference

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5 November 2019

Takafumi Ishida

4

1 reference

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5 November 2019

David H Ledbetter

5

1 reference

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5 November 2019

Ko-ichiro Yoshiura

6

1 reference

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5 November 2019

Tohru Ohta

7

1 reference

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5 November 2019

Tatsuya Kishino

8

1 reference

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5 November 2019

Naomichi Matsumoto

10

1 reference

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5 November 2019

publication date

1 August 2003

1 reference

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5 November 2019

1 reference

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5 November 2019

volume

82

1 reference

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5 November 2019

issue

2

1 reference

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5 November 2019

page(s)

238-244

1 reference

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

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

Molecular mechanisms for constitutional chromosomal rearrangements in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

Initial sequencing and analysis of the human genome

1 reference

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7 January 2021

Williams-Beuren syndrome: genes and mechanisms

1 reference

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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).

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

Molecular mechanisms for genomic disorders

1 reference

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7 January 2021

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

A molecular timescale for vertebrate evolution

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

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

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

Distribution of olfactory receptor genes in the human genome

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

Odorant receptor gene regulation: implications from genomic organization

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2803%2900108-3

7 January 2021

10.1016/S0888-7543(03)00108-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12837273%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference