(Q28141491)

1

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K S Chen

2

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S S Park

3

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D E Osterholm

4

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M A Withers

5

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V Kimonis

6

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A M Summers

7

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W S Meschino

8

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C D Kashork

10

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L G Shaffer

11

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J R Lupski

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

12

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language of work or name

English

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publication date

January 2000

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published in

Nature Genetics

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volume

24

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issue

1

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page(s)

84-7

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cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A common molecular basis for rearrangement disorders on chromosome 22q11

21 January 2018

1 reference

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.

21 January 2018

1 reference

De novo duplication of 17p [dup(17)(p12→p11.2)]: Report of an additional case with confirmation of the cytogenetic, phenotypic, and developmental aspects

21 January 2018

1 reference

Sex-dependent rearrangements resulting in CMT1A and HNPP.

21 January 2018

1 reference

Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes

21 January 2018

1 reference

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.

21 January 2018

1 reference

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

7 January 2021

inferred from DOI database lookup

Definition of the critical interval for Smith-Magenis syndrome

1 reference

7 January 2021

inferred from DOI database lookup

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

1 reference

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/71743

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Dimensions Publication ID

1025954162

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Fatcat ID

release_agzuy6wqabfrjpluag74ral6mu

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/agzuy6wqabfrjpluag74ral6mu

24 November 2022