(Q33400681)

English

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

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scholarly article

1 reference

Europe PubMed Central

26 July 2017

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome (English)

1 reference

Europe PubMed Central

26 July 2017

Shwachman-Diamond syndrome

1 reference

based on heuristic

inferred from title

object named as

Nizar Mahlaoui

6

0 references

Christine Bellanné-Chantelot

20

object named as

Christine Bellanné-Chantelot

1 reference

Europe PubMed Central

26 July 2017

Anne Lambilliotte

7

object named as

Anne Lambilliotte

1 reference

Europe PubMed Central

26 July 2017

Nathalie Aladjidi

8

object named as

Nathalie Aladjidi

1 reference

Europe PubMed Central

26 July 2017

13

object named as

Fanny Fouyssac

1 reference

Europe PubMed Central

26 July 2017

Valérie Mialou

10

object named as

Valérie Mialou

1 reference

Europe PubMed Central

26 July 2017

1

object named as

Jean Donadieu

1 reference

Europe PubMed Central

26 July 2017

Blandine Beaupain

3

object named as

Blandine Beaupain

1 reference

Europe PubMed Central

26 July 2017

Odile Fenneteau

2

object named as

Odile Fenneteau

1 reference

Europe PubMed Central

26 July 2017

Sandrine Beaufils

4

object named as

Sandrine Beaufils

1 reference

Europe PubMed Central

26 July 2017

Florence Bellanger

5

object named as

Florence Bellanger

1 reference

Europe PubMed Central

26 July 2017

Catherine Paillard

14

object named as

Catherine Paillard

1 reference

Europe PubMed Central

26 July 2017

Virginie Gandemer

15

object named as

Virginie Gandemer

1 reference

Europe PubMed Central

26 July 2017

Thierry Leblanc

19

object named as

Thierry Leblanc

1 reference

Europe PubMed Central

26 July 2017

author name string

Yves Bertrand

9

1 reference

Europe PubMed Central

26 July 2017

Christine Perot

11

1 reference

Europe PubMed Central

26 July 2017

Gérard Michel

12

1 reference

Europe PubMed Central

26 July 2017

Patrick Boutard

16

1 reference

Europe PubMed Central

26 July 2017

Jacques Schmitz

17

1 reference

Europe PubMed Central

26 July 2017

Alain Morali

18

1 reference

Europe PubMed Central

26 July 2017

Associated investigators of the French Severe Chronic Neutropenia Registry*

21

1 reference

Europe PubMed Central

26 July 2017

publication date

4 April 2012

1 reference

Europe PubMed Central

26 July 2017

1 reference

Europe PubMed Central

26 July 2017

97

1 reference

Europe PubMed Central

26 July 2017

1312-1319

1 reference

Europe PubMed Central

26 July 2017

9

1 reference

Europe PubMed Central

26 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Congenital neutropenia: diagnosis, molecular bases and patient management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Diagnosis of myelodysplastic syndrome among a cohort of 119 patients with fanconi anemia: morphologic and cytogenetic characteristics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Successful unrelated donor bone marrow transplantation for Shwachman-Diamond syndrome with leukemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Mutations in SBDS are associated with Shwachman-Diamond syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Allogeneic bone marrow transplantation in Shwachman-Diamond syndrome with malignant myeloid transformation. A case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Bone marrow transplantation in Shwachman-Diamond syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-Diamond syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Haematological abnormalities in Shwachman-Diamond syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Allogeneic bone marrow transplatation in a patient with Shwachman-Diamond syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Acute leukemia complicating bone marrow hypoplasia in an adult with Shwachman's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Aplastic anemia associated with the Shwachman syndrome. In vivo and in vitro observations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

Successful cyclosporin A treatment of aplastic anaemia in Shwachman-Diamond syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

21 June 2018

The French national registry of primary immunodeficiency diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

31 October 2018

The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

31 October 2018

Epidemiology, classification and prognosis of adults and children with myelodysplastic syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

31 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

31 October 2018

Myelodysplastic syndrome in children and adolescents.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

31 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

31 October 2018

Successful unrelated umbilical cord blood transplantation in children with Shwachman-Diamond syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

31 October 2018

Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

31 October 2018

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

31 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

31 October 2018

Successful unrelated bone marrow transplantation for Shwachman-Diamond syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3436231

31 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Liver failure complicating non-alcoholic steatohepatitis following allogeneic bone marrow transplantation for Shwachman-Diamond syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Shwachman-Diamond syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome 20q deletion and progression to monosomy 7 in a patient with Shwachman-Diamond syndrome without MDS/AML

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation?

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Criteria for severe aplastic anaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serum IgG subclass concentrations in healthy subjects at different age: age normal percentile charts

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Shwachman-Diamond syndrome and matched unrelated donor BMT

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Related donor liver transplant for veno-occlusive disease following T-depleted unrelated donor bone marrow transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unrelated donor bone marrow transplantation for children and adolescents with aplastic anaemia or myelodysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bone marrow transplantation in Shwachman-Diamond syndrome: report of two cases and review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Shwachman-Diamond syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Monitoring the isochromosome i(7)(q10) in the bone marrow of patients with Shwachman syndrome by real-time quantitative PCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman-Diamond Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22491737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3324/HAEMATOL.2011.057489

1 reference

Europe PubMed Central

26 July 2017

release_6ngl47ytpngalaaiqglnimmzsy

1 reference

https://api.fatcat.wiki/v0/release/6ngl47ytpngalaaiqglnimmzsy

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

26 July 2017

1 reference

Europe PubMed Central

26 July 2017

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