(Q34130421)

English

Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene

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scholarly article

1 reference

Europe PubMed Central

31 July 2017

Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene (English)

1 reference

Europe PubMed Central

31 July 2017

Shwachman-Diamond syndrome

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author name string

Maja Popovic

1

1 reference

Europe PubMed Central

31 July 2017

Sharan Goobie

2

1 reference

Europe PubMed Central

31 July 2017

Jodi Morrison

3

1 reference

Europe PubMed Central

31 July 2017

Lynda Ellis

4

1 reference

Europe PubMed Central

31 July 2017

Nadia Ehtesham

5

1 reference

Europe PubMed Central

31 July 2017

Nicole Richards

6

1 reference

Europe PubMed Central

31 July 2017

Graeme Boocock

7

1 reference

Europe PubMed Central

31 July 2017

Peter R Durie

8

1 reference

Europe PubMed Central

31 July 2017

Johanna M Rommens

9

1 reference

Europe PubMed Central

31 July 2017

language of work or name

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publication date

1 April 2002

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Europe PubMed Central

31 July 2017

European Journal of Human Genetics

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Europe PubMed Central

31 July 2017

10

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Europe PubMed Central

31 July 2017

4

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Europe PubMed Central

31 July 2017

250-258

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Europe PubMed Central

31 July 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200798

0 references

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Tyrosylprotein sulfotransferase: purification and molecular cloning of an enzyme that catalyzes tyrosine O-sulfation, a common posttranslational modification of eukaryotic proteins

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

A human chromosome 7-specific genomic DNA library in yeast artificial chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

An improved approach for construction of bacterial artificial chromosome libraries.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

An STS-based radiation hybrid map of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

An STS-based map of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

A physical map of human chromosome 7: an integrated YAC contig map with average STS spacing of 79 kb.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

A physical map of 30,000 human genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

A metric map of humans: 23,500 loci in 850 bands

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Genomic organization of alpha satellite DNA on human chromosome 7: evidence for two distinct alphoid domains on a single chromosome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Rapid generation of chromosome-specific alphoid DNA probes using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Comprehensive human genetic maps: individual and sex-specific variation in recombination

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Lessons from the human genome: transitions between euchromatin and heterochromatin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Segmental duplications: what's missing, misassigned, and misassembled--and should we care?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Linkage disequilibrium in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMS1, a member of mismatch repair genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Cloning and characterization of a novel human gene encoding a zinc finger protein with 25 fingers

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

A high-resolution radiation hybrid map of the human genome draft sequence.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Tyrosine sulfation: a modulator of extracellular protein-protein interactions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Catalog of 320 single nucleotide polymorphisms (SNPs) in 20 quinone oxidoreductase and sulfotransferase genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Regional localization of 725 human chromosome 7-specific yeast artificial chromosome clones

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Comparison of human genetic and sequence-based physical maps

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

21 January 2018

Isolation of RNA using guanidinium salts

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of the monomeric alphoid sequences in the pericentromeric region of human chromosome 7

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

7 January 2021

based on heuristic

inferred from DOI database lookup

Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200798

7 January 2021

based on heuristic

inferred from DOI database lookup

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10.1038/SJ.EJHG.5200798

1 reference

Europe PubMed Central

31 July 2017

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1 reference

Europe PubMed Central

31 July 2017

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