(Q33415672)

26 July 2017

title

Inherited bone marrow failure syndromes in adolescents and young adults (English)

1 reference

26 July 2017

1 reference

David B Wilson

1

0 references

author name string

Daniel C Link

series ordinal

2

1 reference

26 July 2017

Philip J Mason

series ordinal

3

1 reference

26 July 2017

Monica Bessler

series ordinal

4

1 reference

26 July 2017

language of work or name

English

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publication date

3 June 2014

1 reference

26 July 2017

1 reference

26 July 2017

volume

46

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26 July 2017

issue

6

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26 July 2017

page(s)

353-363

1 reference

Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry

26 July 2017

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21 June 2018

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21 June 2018

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21 June 2018

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Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment

21 June 2018

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21 June 2018

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Hematopoietic stem cell transplantation for severe congenital neutropenia.

21 June 2018

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Ribosomal protein gene deletions in Diamond-Blackfan anemia.

21 June 2018

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The Fanconi anaemia pathway orchestrates incisions at sites of crosslinked DNA.

21 June 2018

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21 June 2018

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Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review

21 June 2018

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Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase

21 June 2018

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Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane

21 June 2018

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Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis

21 June 2018

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SBDS protein expression patterns in the bone marrow.

21 June 2018

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How I treat Diamond-Blackfan anemia

21 June 2018

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Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.

21 June 2018

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Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy.

21 June 2018

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Pathophysiology and management of inherited bone marrow failure syndromes

21 June 2018

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Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia

21 June 2018

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Oral and dental phenotype of dyskeratosis congenita

21 June 2018

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TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

21 June 2018

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HLA-matched sibling hematopoietic stem cell transplantation for fanconi anemia: comparison of irradiation and nonirradiation containing conditioning regimens

21 June 2018

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How shelterin protects mammalian telomeres

21 June 2018

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Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

21 June 2018

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TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius 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=4426964

Diamond blackfan anemia: New paradigms for a "not so pure" inherited red cell aplasia

21 June 2018

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High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

Mutations of the SBDS gene are present in most patients with Shwachman-Diamond 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=4426964

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

Dyskeratosis congenita and telomerase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond 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=4426964

In vivo reversion to normal of inherited mutations in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

Cancer in Fanconi anemia, 1927-2001

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

Mutations in SBDS are associated with Shwachman-Diamond 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=4426964

Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond 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=4426964

Acute myeloid leukemia in a patient with thrombocytopenia with absent radii 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=4426964

The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) 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=4426964

Shwachman's syndrome: pathomorphosis and long-term outcome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

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

21 June 2018

1 reference

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Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression

21 June 2018

1 reference

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Haematological abnormalities in Shwachman-Diamond 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=4426964

A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study.

21 June 2018

1 reference

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

21 June 2018

1 reference

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A 20-year perspective on the International Fanconi Anemia Registry (IFAR).

21 June 2018

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Cancer incidence in persons with Fanconi anemia.

21 January 2018

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Oxandrolone for the treatment of bone marrow failure in Fanconi anemia

21 January 2018

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Dyskeratosis congenita: oral hyperkeratosis in association with lichenoid reaction.

21 January 2018

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RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations

21 January 2018

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Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect

21 January 2018

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Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2014.915579

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2014.915579

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2014.915579

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

21 January 2018

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

21 January 2018

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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/10.3109%2F07853890.2014.915579

Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2014.915579

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2014.915579

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2014.915579

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4426964

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

31 October 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2014.915579

Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment

21 January 2018

1 reference

12 December 2020

Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response

1 reference

12 December 2020

Dysfunctional telomeres and dyskeratosis congenita

1 reference

12 December 2020

Dyskeratosis congenita

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologi

1 reference

12 December 2020

Unusual complications after bone marrow transplantation for dyskeratosis congenita

1 reference

12 December 2020

Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome

1 reference

12 December 2020

Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita

1 reference

12 December 2020

Late death after unrelated-BMT for dyskeratosis congenita following conditioning with alemtuzumab, fludarabine and melphalan

1 reference

12 December 2020

Diagnosis of Fanconi anemia in patients without congenital malformations: An international Fanconi anemia registry study

1 reference

12 December 2020

Diamond-Blackfan anaemia in the Italian population

1 reference

12 December 2020

High incidence of Fanconi anaemia in patients with a morphological picture consistent with refractory cytopenia of childhood

1 reference

12 December 2020

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

12 December 2020

Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis

1 reference

12 December 2020

Confounding factors in the diagnosis of Fanconi anaemia

1 reference

12 December 2020

10.3109/07853890.2014.915579

Identifiers

DOI

1 reference

26 July 2017

1 reference

26 July 2017

1 reference