(Q53443331)

14 May 2018

title

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. (English)

1 reference

14 May 2018

author

Chang-Seok Ki

12

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14 May 2018

Sheila Unger

15

object named as

Sheila Unger

1 reference

14 May 2018

Andrea Superti-Furga

16

object named as

Andrea Superti-Furga

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14 May 2018

author name string

Su Jin Kim

1

1 reference

14 May 2018

Tadeusz Bieganski

2

1 reference

14 May 2018

Young Bae Sohn

3

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14 May 2018

Kazimierz Kozlowski

4

1 reference

14 May 2018

Mikhail Semënov

5

1 reference

14 May 2018

Nobuhiko Okamoto

6

1 reference

14 May 2018

Chi Hwa Kim

7

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14 May 2018

Ah-Ra Ko

8

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14 May 2018

Geung Hwan Ahn

9

1 reference

14 May 2018

Yoon-La Choi

10

1 reference

14 May 2018

Sung Won Park

11

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14 May 2018

Ok-Hwa Kim

13

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14 May 2018

Gen Nishimura

14

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14 May 2018

Dong-Kyu Jin

17

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14 May 2018

publication date

9 January 2011

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14 May 2018

published in

Human Genetics

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14 May 2018

volume

129

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14 May 2018

issue

5

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14 May 2018

page(s)

497-502

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14 May 2018

Craniodiaphyseal dysplasia; another cause of difficult intubation.

cites work

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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/10.1007%2FS00439-011-0947-3

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/10.1007%2FS00439-011-0947-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0947-3

Craniodiaphyseal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0947-3

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0947-3

A rare case of bone dystrophy

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0947-3

The natural history of sclerosteosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0947-3

A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-011-0947-3

Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0947-3

MR imaging features of craniodiaphyseal dysplasia

21 January 2018

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Sclerostin promotes the apoptosis of human osteoblastic cells: a novel regulation of bone formation

21 January 2018

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Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-011-0947-3

A boy with severe craniodiaphyseal dysplasia and apparently normal mother

21 January 2018

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12 December 2020

The syndromic status of sclerosteosis and van Buchem disease.

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Craniodiaphyseal dysplasia.

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Inherited disorders in the Afrikaner population of southern Africa. Part II. Skeletal, dermal and haematological conditions; the Afrikaners of Gamkaskloof; demographic considerations

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12 December 2020

Craniodiaphyseal dysplasia: an unusual cause of recurrent dacryocystitis.

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Craniodiaphyseal dysplasia, a disease or group of diseases?

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[A case of craniodiaphyseal dysplasia]

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Stenosis of the cervical canal in craniodiaphyseal dysplasia

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12 December 2020

Dominantly inherited craniodiaphyseal dysplasia: a new craniotubular dysplasia.

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Identifiers

DOI

1 reference

14 May 2018

1 reference

14 May 2018