(Q78002640)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10406671%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10406671%20AND%20SRC:MED&resulttype=core&format=json

Shwachman-Diamond syndrome

10 December 2019

main subject

1 reference

10

K Morgan

1 reference

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10 December 2019

author name string

S Goobie

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10406671%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

J Morrison

2

1 reference

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10 December 2019

H Ginzberg

3

1 reference

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10 December 2019

L Ellis

4

1 reference

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10 December 2019

M Corey

5

1 reference

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10 December 2019

M Masuno

6

1 reference

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10 December 2019

K Imaizumi

7

1 reference

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10 December 2019

Y Kuroki

8

1 reference

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10 December 2019

T M Fujiwara

9

1 reference

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10 December 2019

P R Durie

11

1 reference

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10 December 2019

J M Rommens

12

1 reference

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10 December 2019

publication date

1 July 1999

1 reference

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American Journal of Medical Genetics Part A

10 December 2019

published in

1 reference

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10 December 2019

volume

85

1 reference

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10 December 2019

issue

2

1 reference

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10 December 2019

page(s)

171-174

1 reference

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Shwachman's syndrome. A review of 21 cases

10 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome

21 January 2018

1 reference

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Plasma Immunoreactive Pancreatic Cationic Trypsinogen in Cystic Fibrosis: a Sensitive Indicator of Exocrine Pancreatic Dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

The 1993-94 Généthon human genetic linkage map

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

Strategies for multilocus linkage analysis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

Construction of human linkage maps: likelihood calculations for multilocus linkage analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

Serum immunoreactive cationic trypsinogen: a useful indicator of severe exocrine dysfunction in the paediatric patient without cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

Faster linkage analysis computations for pedigrees with loops or unused alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

Avoiding recomputation in linkage analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990716%2985%3A2%3C171%3A%3AAID-AJMG12%3E3.0.CO%3B2-K

21 January 2018

Deletion (12)(q15q21.2).

1 reference

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10.1002/(SICI)1096-8628(19990716)85:2<171::AID-AJMG12>3.0.CO;2-K

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10406671%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference