(Q37970727)

26 August 2017

title

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome (English)

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26 August 2017

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6

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12

Taco Kuijpers

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1

Yigal Dror

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26 August 2017

Jean Donadieu

2

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26 August 2017

Jutta Koglmeier

3

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26 August 2017

John Dodge

4

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Sanna Toiviainen-Salo

5

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26 August 2017

Elizabeth Kerr

7

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26 August 2017

Cornelia Zeidler

8

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Akiko Shimamura

9

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26 August 2017

Neil Shah

10

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26 August 2017

Marco Cipolli

11

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Peter Durie

13

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Johanna Rommens

14

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26 August 2017

Liesbeth Siderius

15

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26 August 2017

Johnson M Liu

16

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26 August 2017

language of work or name

English

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publication date

1 December 2011

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Annals of the New York Academy of Sciences

26 August 2017

published in

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26 August 2017

volume

1242

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26 August 2017

page(s)

40-55

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THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

26 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Shwachman-Diamond syndrome: report from an international conference

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Mutations in SBDS are associated with Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Shwachman's syndrome. A review of 21 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Association of pancreatic insufficiency and chronic neutropenia in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Shwachman-diamond syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Haematological abnormalities in Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Fatal cyclophosphamide-induced congestive heart failure in a 10-year-old boy with Shwachman-Diamond syndrome and severe bone marrow failure treated with allogeneic bone marrow transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Shwachman-Diamond syndrome: clinical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

The natural history of Shwachman-Diamond syndrome-associated liver disease from childhood to adulthood

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Shwachman-Diamond syndrome is associated with low-turnover osteoporosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Immune function in patients with Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

A practical, comprehensive classification for pediatric myelodysplastic syndromes: the CCC system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Proposals for the classification of the myelodysplastic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Shwachman-Diamond syndrome: early bone marrow transplantation in a high risk patient and new clues to pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Enteropathic histopathological features may be associated with Shwachman-Diamond syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Psychological characteristics of children with Shwachman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Shwachman's syndrome: pathomorphosis and long-term outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Shwachman-Diamond syndrome is associated with structural brain alterations on MRI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Prevalence of oral diseases in Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

Myocardial function in patients with Shwachman-Diamond syndrome: Aspects to consider before stem cell transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06349.X

10.1111/J.1749-6632.2011.06349.X

21 January 2018

Identifiers

DOI

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26 August 2017

1 reference