(Q47956829)

7 February 2018

title

Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]. (English)

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7 February 2018

author name string

Ikegawa S

1

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7 February 2018

Ohashi H

2

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7 February 2018

Hosoda F

3

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7 February 2018

Fukushima Y

4

1 reference

7 February 2018

Ohki M

5

1 reference

7 February 2018

Nakamura Y

6

1 reference

7 February 2018

publication date

1 June 1998

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7 February 2018

American Journal of Medical Genetics Part A

published in

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7 February 2018

volume

77

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7 February 2018

issue

5

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7 February 2018

page(s)

356-359

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7 February 2018

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980605%2977%3A5%3C356%3A%3AAID-AJMG3%3E3.0.CO%3B2-L

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

21 January 2018

1 reference

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Molecular cloning of the interleukin-1 beta converting enzyme

21 January 2018

1 reference

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Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980605%2977%3A5%3C356%3A%3AAID-AJMG3%3E3.0.CO%3B2-L

A complete NotI restriction map covering the entire long arm of human chromosome 11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980605%2977%3A5%3C356%3A%3AAID-AJMG3%3E3.0.CO%3B2-L

Physical ordering of three polymorphic DNA markers spanning the regions containing a tumor suppressor gene of renal cell carcinoma by three-color fluorescent in situ hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980605%2977%3A5%3C356%3A%3AAID-AJMG3%3E3.0.CO%3B2-L

A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980605%2977%3A5%3C356%3A%3AAID-AJMG3%3E3.0.CO%3B2-L

Fragile site long arm chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980605%2977%3A5%3C356%3A%3AAID-AJMG3%3E3.0.CO%3B2-L

Interstitial deletion of the long arm of chromosome 11: report of a case and review of the literature

21 January 2018

1 reference

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Peters' anomaly associated with partial deletion of the long arm of chromosome 11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980605%2977%3A5%3C356%3A%3AAID-AJMG3%3E3.0.CO%3B2-L

Linkage of typical pseudoachondroplasia to chromosome 19

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980605%2977%3A5%3C356%3A%3AAID-AJMG3%3E3.0.CO%3B2-L

Chromosome mapping of the human mitochondrial acetoacetyl-coenzyme A thiolase gene to 11q22.3----q23.1 by fluorescence in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980605%2977%3A5%3C356%3A%3AAID-AJMG3%3E3.0.CO%3B2-L

The biochemical defect of pseudoachondroplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980605%2977%3A5%3C356%3A%3AAID-AJMG3%3E3.0.CO%3B2-L

10.1002/(SICI)1096-8628(19980605)77:5<356::AID-AJMG3>3.0.CO;2-L

21 January 2018

Identifiers

DOI

1 reference

7 February 2018

1 reference

7 February 2018