(Q36153055)

12 August 2017

1 reference

title

Shwachman-Diamond syndrome: UK perspective (English)

1 reference

Shwachman-Diamond syndrome

12 August 2017

1 reference

G W Hall

1

1 reference

12 August 2017

P Dale

series ordinal

2

1 reference

12 August 2017

J A Dodge

series ordinal

3

1 reference

12 August 2017

language of work or name

English

0 references

publication date

1 June 2006

1 reference

Archives of Disease in Childhood

12 August 2017

1 reference

12 August 2017

91

1 reference

12 August 2017

6

1 reference

12 August 2017

521-524

1 reference

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

Lipomatous congenital hypoplasia of the exocrine pancreas in children. (2 cases and review of the literature)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

Mutations in SBDS are associated with Shwachman-Diamond syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

Inherited causes of exocrine pancreatic dysfunction

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

Haematological abnormalities in Shwachman-Diamond syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

Shwachman's syndrome. A review of 21 cases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

Association of pancreatic insufficiency and chronic neutropenia in childhood

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

Syndrome of pancreatic insufficiency, blood dyscrasia and metaphyseal dysplasia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

Psychological characteristics of children with Shwachman syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

Nephrocalcinosis in Shwachman's syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

Shwachman-diamond syndrome.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

Immune function in patients with Shwachman-Diamond syndrome

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2082808

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

23 September 2018

1 reference

12 December 2020

Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome

1 reference

12 December 2020

Intermittent 20q- and consistent i(7q) in a patient with Shwachman-Diamond 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

Shwachman syndrome: CT and MR diagnosis

1 reference

12 December 2020

Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome

1 reference

12 December 2020

Microbiology of destructive periodontal disease in adolescent patients with congenital neutropenia. A report of 3 cases

1 reference

12 December 2020

Identifiers

DOI

10.1136/ADC.2003.046151

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

16714727

1 reference