Related references
Note: Only part of the references are listed.GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity
Michael A. Spinner et al.
BLOOD (2014)
Variable Clinical Presentation of Shwachman-Diamond Syndrome: Update from the North American Shwachman-Diamond Syndrome Registry
Kasiani C. Myers et al.
JOURNAL OF PEDIATRICS (2014)
Oxandrolone for the Treatment of Bone Marrow Failure in Fanconi Anemia
Susan R. Rose et al.
PEDIATRIC BLOOD & CANCER (2014)
Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q-syndrome
Adrianna Vlachos et al.
BLOOD (2013)
High incidence of Fanconi anaemia in patients with a morphological picture consistent with refractory cytopenia of childhood
Ayami Yoshimi et al.
BRITISH JOURNAL OF HAEMATOLOGY (2013)
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia
John H. Fargo et al.
BRITISH JOURNAL OF HAEMATOLOGY (2013)
Clinical utility gene card for: Diamond - Blackfan anemia - update 2013
Adrianna Vlachos et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Mutations in the telomere capping complex in bone marrow failure and related syndromes
Amanda J. Walne et al.
HAEMATOLOGICA (2013)
Clinical and Molecular Pathophysiology of Shwachman-Diamond Syndrome: An Update
Kasiani C. Myers et al.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2013)
ZFP36L2 is required for self-renewal of early burst-forming unit erythroid progenitors
Lingbo Zhang et al.
NATURE (2013)
Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia
Pekka Jaako et al.
BLOOD (2012)
Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry
Adrianna Vlachos et al.
BLOOD (2012)
L-leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway
Elspeth M. Payne et al.
BLOOD (2012)
Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia
Goran Carlsson et al.
BRITISH JOURNAL OF HAEMATOLOGY (2012)
Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis
Barbara Pressato et al.
BRITISH JOURNAL OF HAEMATOLOGY (2012)
Hematopoietic stem cell transplantation for severe congenital neutropenia
James A. Connelly et al.
CURRENT OPINION IN HEMATOLOGY (2012)
Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome
Jean Donadieu et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2012)
The Fanconi anaemia pathway orchestrates incisions at sites of crosslinked DNA
Gerry P. Crossan et al.
JOURNAL OF PATHOLOGY (2012)
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Cornelis A. Albers et al.
NATURE GENETICS (2012)
Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis
Anneke B. Oostra et al.
ANEMIA (2012)
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome
Yigal Dror et al.
ANNALS MEETING REPORTS (2011)
Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis
Roland Leung et al.
BLOOD (2011)
Ribosomal protein gene deletions in Diamond-Blackfan anemia
Jason E. Farrar et al.
BLOOD (2011)
Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase
Erin M. Parry et al.
BLOOD (2011)
Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane
Suparna Nanua et al.
BLOOD (2011)
Orchestrating the nucleases involved in DNA interstrand cross-link (ICL) repair
Blanka Sengerova et al.
CELL CYCLE (2011)
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation
S. K. Hashmi et al.
CLINICAL GENETICS (2011)
Congenital Amegakaryocytic Thrombocytopenia: Clinical Presentation, Diagnosis, and Treatment
Matthias Ballmaier et al.
SEMINARS IN THROMBOSIS AND HEMOSTASIS (2011)
DNA interstrand crosslink repair and cancer
Andrew J. Deans et al.
NATURE REVIEWS CANCER (2011)
Pathophysiology and management of inherited bone marrow failure syndromes
Akiko Shimamura et al.
BLOOD REVIEWS (2010)
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome
M. C. J. Jongmans et al.
LEUKEMIA (2010)
SBDS Protein Expression Patterns in the Bone Marrow
Trisha E. Wong et al.
PEDIATRIC BLOOD & CANCER (2010)
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements
Hong-Yan Du et al.
BLOOD (2009)
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies
Emanuela Maserati et al.
BRITISH JOURNAL OF HAEMATOLOGY (2009)
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia
Jun Xia et al.
BRITISH JOURNAL OF HAEMATOLOGY (2009)
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
A. Minelli et al.
LEUKEMIA (2009)
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
Sharon A. Savage et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
How Shelterin Protects Mammalian Telomeres
Wilhelm Palm et al.
ANNUAL REVIEW OF GENETICS (2008)
HLA-Matched sibling hematopoietic stem cell transplantation for Fanconi anemia: comparison of irradiation and nonirradiation containing conditioning regimens
Ricardo Pasquini et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2008)
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
Amanda J. Walne et al.
BLOOD (2008)
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
Adrianna Vlachos et al.
BRITISH JOURNAL OF HAEMATOLOGY (2008)
Oral and dental phenotype of dyskeratosis congenita
J. C. Atkinson et al.
ORAL DISEASES (2008)
Myocardial function in patients with Shwachman-Diamond syndrome:: Aspects to consider before stem cell transplantation
Sanna Toiviainen-Salo et al.
PEDIATRIC BLOOD & CANCER (2008)
Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis
David S. Grenda et al.
BLOOD (2007)
Late death after unrelated-BMT for dyskeratosis congenita following conditioning with alemtuzumab, fludarabine and melphalan
K. Amarasinghe et al.
BONE MARROW TRANSPLANTATION (2007)
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
Blanche P. Alter et al.
BLOOD (2007)
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
Eva Klopocki et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Dyskeratosis congenita: oral hyperkeratosis in association with lichenoid reaction
T. P. B. Handley et al.
JOURNAL OF ORAL PATHOLOGY & MEDICINE (2006)
Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response
Inga Koellner et al.
BLOOD (2006)
Diamond blackfan anemia; New paradigms for a not so pure inherited red cell aplasia
Jeffrey M. Lipton
SEMINARS IN HEMATOLOGY (2006)
The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy
Philip S. Rosenberg et al.
BLOOD (2006)
Improving clinical care and elucidating the pathophysiology of diamond Blackfan anemia: An update from the Diamond Blackfan anemia registry
JM Lipton et al.
PEDIATRIC BLOOD & CANCER (2006)
Haematopoietic stem cell transplantation for Shwachman-Diamond disease:: a study from the European Group for blood and marrow transplantation
S Cesaro et al.
BRITISH JOURNAL OF HAEMATOLOGY (2005)
Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship
TW Kuijpers et al.
BLOOD (2005)
Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect
Y Ohene-Abuakwa et al.
BLOOD (2005)
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome
E Nakashima et al.
HUMAN GENETICS (2004)
Dyskeratosis congenita and telomerase
M Bessler et al.
CURRENT OPINION IN PEDIATRICS (2004)
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS
O Mäkitie et al.
CLINICAL GENETICS (2004)
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations
HT Gazda et al.
BRITISH JOURNAL OF HAEMATOLOGY (2004)
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome
JR Woloszynek et al.
BLOOD (2004)
Mutations in the ELA2 gene correlate with more severe expression of neutropenia:: a study of 81 patients from the French Neutropenia Register
C Bellanné-Chantelot et al.
BLOOD (2004)
In vivo reversion to normal of inherited mutations in humans
R Hirschhorn
JOURNAL OF MEDICAL GENETICS (2003)
A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
DI Kutler et al.
BLOOD (2003)
Mutations in SBDS are associated with Shwachman-Diamond syndrome
GRB Boocock et al.
NATURE GENETICS (2003)
Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome?
J Cunningham et al.
BRITISH JOURNAL OF HAEMATOLOGY (2002)
Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome
WF Ip et al.
JOURNAL OF PEDIATRICS (2002)
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: A prospective 5-year follow-up study
Y Dror et al.
EXPERIMENTAL HEMATOLOGY (2002)
Acute myeloid leukemia in a patient with thrombocytopenia with absent radii syndrome
Z Fadoo et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2002)
Reverse mosaicism in Fanconi anemia: natural gene therapy via molecular self-correction
M Gross et al.
CYTOGENETIC AND GENOME RESEARCH (2002)
The Diamond Blackfan Anemia Registry: Tool for investigating the epidemiology and biology of Diamond-Blackfan anemia
A Vlachos et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2001)