Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance (Q34145612)

31 July 2017

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Segregation analysis in Shwachman-Diamond syndrome: evidence for recessive inheritance (English)

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Shwachman-Diamond syndrome

31 July 2017

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Ginzberg H

1

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31 July 2017

Shin J

2

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31 July 2017

Ellis L

3

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31 July 2017

Goobie S

4

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31 July 2017

Morrison J

5

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31 July 2017

Corey M

6

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31 July 2017

Durie PR

7

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31 July 2017

Rommens JM

8

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31 July 2017

language of work or name

English

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publication date

14 March 2000

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American Journal of Human Genetics

31 July 2017

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31 July 2017

66

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31 July 2017

4

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31 July 2017

1413-1416

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Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288206

Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288206

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288206

Shwachman's syndrome. A review of 21 cases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288206

Simple segregation analysis: a review of its history and terminology

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288206

A simple method of estimating the segregation ratio under complete ascertainment

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288206

The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288206

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288206

The ?singles? method for segregation analysis under incomplete ascertainment

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288206

An inherited defect of neutrophil mobility in Shwachman syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288206

Increased paternal age in CHARGE association

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288206

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

28 October 2018

1 reference

12 December 2020

Impaired natural killer cell recycling in childhood chronic neutropenia with morphological abnormalities and defective chemotaxis of neutrophils

1 reference

12 December 2020

Aberrant phagocyte function in Shwachman syndrome

1 reference

12 December 2020

Changing paternal age distribution and the human mutation rate in Europe

1 reference

12 December 2020

Births in Canada, 1992

1 reference

12 December 2020

High parental age is associated with sporadic hereditary retinoblastoma: the Dutch retinoblastoma register 1862-1994

1 reference

12 December 2020

Identifiers

DOI

10.1086/302856

1 reference

release_nmukdgcranf43e27ezet3mlxwm

31 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/nmukdgcranf43e27ezet3mlxwm

24 November 2022

mapped directly with Wikidata item

PMCID

1288206

1 reference

31 July 2017

1 reference