A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population (Q28214572)

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Sean Proll

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Bryan W Paeper

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Lei Zhao

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Patrick Charmley

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Analisa Brown

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Jessica C Gardner

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David Galas

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Randall C Schatzman

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Peter Beighton

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Socrates Papapoulos

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Herman Hamersma

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Mary E Brunkow

American Journal of Medical Genetics Part A

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language of work or name

English

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publication date

15 June 2002

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published in

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volume

110

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page(s)

144-52

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issue

2

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cites work

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Prediction of complete gene structures in human genomic DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Human chromosome 19 and related regions in mouse: conservative and lineage-specific evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Two cases of Van Buchem's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Generalized Cortical Hyperostosis (Van Buchem Disease): Nosologic Considerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

22 genes from chromosome 17q21: cloning, sequencing, and characterization of mutations in breast cancer families and tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease (endosteal hyperostosis).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

The detailed characterisation of a 400 kb cosmid walk in the BRCA1 region: identification and localisation of 10 genes including a dual-specificity phosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Identification of a Coordinate Regulator of Interleukins 4, 13, and 5 by Cross-Species Sequence Comparisons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Linkage analysis with multiplexed short tandem repeat polymorphisms using infrared fluorescence and M13 tailed primers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Direct selection of expressed sequences within a 1-Mb region flanking BRCA1 on human chromosome 17q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Van Buchem's disease (hyperostosis corticalis generalisata)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Homeodomain proteins Mox1 and Mox2 associate with Pax1 and Pax3 transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

WHSC1L1, on human chromosome 8p11.2, closely resembles WHSC1 and maps to a duplicated region shared with 4p16.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

TRANSFAC: an integrated system for gene expression regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10401

21 January 2018

Identifiers

DOI

10.1002/AJMG.10401

1 reference

Consolidated OpenCitations Corpus – April 2017

release_4p4q6reyojhgvlkqgmm5kw62d4

5043482

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4p4q6reyojhgvlkqgmm5kw62d4

mapped directly with Wikidata item

24 November 2022

based on heuristic

5043482

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference