Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease (Q24679575)

2

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M Ebeling

3

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E Van Hul

4

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W Wuyts

5

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C Lacza

6

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M Dioszegi

7

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F G Dikkers

8

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P Hildering

9

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P J Willems

10

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J B G M Verheij

11

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K Lindpaintner

12

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B Vickery

13

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D Foernzler

14

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W Van Hul

Journal of Medical Genetics

15

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language of work or name

English

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publication date

February 2002

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published in

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volume

39

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issue

2

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page(s)

91-7

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cites work

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

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

7 April 2017

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3' deletions cause aniridia by preventing PAX6 gene expression

7 April 2017

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Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia

7 April 2017

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Basic local alignment search tool

7 April 2017

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

7 April 2017

1 reference

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

7 April 2017

1 reference

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Van Buchem's disease (hyperostosis corticalis generalisata familiaris). A case report

7 April 2017

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Conserved noncoding sequences are reliable guides to regulatory elements.

7 April 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

1 reference

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Two cases of Van Buchem's disease

28 September 2017

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28 September 2017

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Sclerosteosis. A case report

28 September 2017

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Sclerosteosis: report of a case in a black African man.

28 September 2017

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The involvement of Alu repeats in recombination events at the alpha-globin gene cluster: characterization of two alphazero-thalassaemia deletion breakpoints.

30 May 2018

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

30 May 2018

1 reference

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The syndromic status of sclerosteosis and van Buchem disease.

30 May 2018

1 reference

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Hyperostosis corticalis generalisata (Van Buchem)

30 May 2018

1 reference

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Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship.

30 May 2018

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[Partial empty sella turcica in Van Buchem's disease]

28 November 2018

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12 December 2020

[Endosteal hyperostosis with recessive transmission (Van Buchem's disease). A case report]

1 reference

12 December 2020

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

1 reference

12 December 2020

Position effect in human genetic disease

1 reference

12 December 2020

Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome

1 reference

12 December 2020

An uncommon familial systemic disease of the skeleton: hyperostosis corticalis generalisata familiaris

1 reference

12 December 2020

Facial nerve grading systems

1 reference

12 December 2020

Van Buchem's disease with classical radiological features and appearances on cranial computed tomography

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.39.2.91

1 reference

1230169

1230169

1 reference

1 reference

1 reference