(Q33682811)

28 July 2017

title

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

1 reference

28 July 2017

Masuno M

1

1 reference

28 July 2017

Imaizumi K

2

1 reference

28 July 2017

Nishimura G

3

1 reference

28 July 2017

Nakamura M

4

1 reference

28 July 2017

Saito I

5

1 reference

28 July 2017

Akagi K

6

1 reference

28 July 2017

Kuroki Y

7

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 November 1995

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

32

1 reference

28 July 2017

issue

11

1 reference

28 July 2017

page(s)

894-895

1 reference

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051744

Shwachman's syndrome. A review of 21 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051744

Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051744

A case of Shwachman syndrome with increased spontaneous chromosome breakage

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051744

21 June 2018

Deletion (12)(q15q21.2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051744

Biallelic DNA polymorphism of an alpha-tubulin gene family member on chromosome 12 [TUBA/MspI/2.2;2.0 kb].

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051744

Psychological characteristics of children with Shwachman syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051744

Cloning of cDNAs for Fanconi's anaemia by functional complementation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051744

Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051744

A mentally retarded child with a translocation involving chromosomes 12 and 19

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051744

High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051744

Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051744

Is Shwachman syndrome (McKusick 26040) a chromosome breakage syndrome?

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8592336

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Shwachman syndrome: CT and MR diagnosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8592336

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.32.11.894

1 reference

28 July 2017

1 reference

28 July 2017

1 reference