(Q24536337)

5 July 2017

0 references

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

1 reference

Shwachman-Diamond syndrome

5 July 2017

1 reference

1 reference

12

Morgan K

1 reference

5 July 2017

Goobie S

1

1 reference

5 July 2017

Popovic M

2

1 reference

5 July 2017

Morrison J

3

1 reference

5 July 2017

Ellis L

4

1 reference

5 July 2017

Ginzberg H

5

1 reference

5 July 2017

Boocock GR

6

1 reference

5 July 2017

Ehtesham N

7

1 reference

5 July 2017

Bétard C

8

1 reference

5 July 2017

Brewer CG

9

1 reference

5 July 2017

Roslin NM

10

1 reference

5 July 2017

Hudson TJ

11

1 reference

5 July 2017

Fujiwara TM

13

1 reference

5 July 2017

Durie PR

14

1 reference

5 July 2017

Rommens JM

15

1 reference

5 July 2017

language of work or name

English

0 references

publication date

15 March 2001

1 reference

American Journal of Human Genetics

5 July 2017

1 reference

5 July 2017

68

1 reference

5 July 2017

1048-1054

1 reference

5 July 2017

4

1 reference

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

5 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Strategies for multilocus linkage analysis in humans

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Parametric and nonparametric linkage analysis: a unified multipoint approach

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Faster sequential genetic linkage computations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Discordant detection of monosomy 7 by GTG-banding and FISH in a patient with Shwachman-Diamond syndrome without evidence of myelodysplastic syndrome or acute myelogenous leukemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Extreme reduction of chromosome-specific alpha-satellite array is unusually common in human chromosome 21.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

An STS-based radiation hybrid map of the human genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

A breakpoint map of recurrent chromosomal rearrangements in human neoplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Haematological abnormalities in Shwachman-Diamond syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Orthopaedic features of Shwachman syndrome. A report of two cases.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Childhood monosomy 7: epidemiology, biology, and mechanistic implications.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Isochromosomes in neoplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Shwachman's syndrome. A review of 21 cases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Association of pancreatic insufficiency and chronic neutropenia in childhood

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Physical map of the centromeric region of human chromosome 7: relationship between two distinct alpha satellite arrays

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Psychological characteristics of children with Shwachman syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Syndrome of Shwachman and Leukaemia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

A large polymorphic repeat in the pericentromeric region of human chromosome 15q contains three partial gene duplications.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Repetitive conundrums of centromere structure and function.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Faster multipoint linkage analysis using Fourier transforms.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

Avoiding recomputation in linkage analysis.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275624

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

29 November 2018

1 reference

12 December 2020

Malignant myeloid transformation with isochromosome 7q in Shwachman-Diamond syndrome

1 reference

12 December 2020

Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations

1 reference

12 December 2020

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

1 reference

12 December 2020

Spurious monosomy 7 in leukemia due to centromeric heteromorphism

1 reference

12 December 2020

Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders

1 reference

12 December 2020

The occurrence of leukemia in patients with the Shwachman syndrome

1 reference

12 December 2020

Steatorrhea and pancreatic insufficiency in Shwachman syndrome

1 reference

12 December 2020

Frequent myocardial lesions in Shwachman's syndrome. Eight fatal cases among 16 Finnish patients

1 reference

12 December 2020

Identifiers

DOI

10.1086/319505

1 reference

5 July 2017

1 reference

5 July 2017

1 reference