标题
Inherited bone marrow failure syndromes in adolescents and young adults
作者
关键词
-
出版物
ANNALS OF MEDICINE
Volume 46, Issue 6, Pages 353-363
出版商
Informa UK Limited
发表日期
2014-06-03
DOI
10.3109/07853890.2014.915579
参考文献
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注意：仅列出部分参考文献，下载原文获取全部文献信息。- Variable Clinical Presentation of Shwachman–Diamond Syndrome: Update from the North American Shwachman–Diamond Syndrome Registry
- (2014) Kasiani C. Myers et al. JOURNAL OF PEDIATRICS
- GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity
- (2013) M. A. Spinner et al. BLOOD
- Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome
- (2013) A. Vlachos et al. BLOOD
- Clinical utility gene card for: Diamond – Blackfan Anemia – update 2013
- (2013) Adrianna Vlachos et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- ZFP36L2 is required for self-renewal of early burst-forming unit erythroid progenitors
- (2013) Lingbo Zhang et al. NATURE
- Oxandrolone for the treatment of bone marrow failure in Fanconi anemia
- (2013) Susan R. Rose et al. PEDIATRIC BLOOD & CANCER
- Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia
- (2012) P. Jaako et al. BLOOD
- Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry
- (2012) A. Vlachos et al. BLOOD
- L-leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway
- (2012) E. M. Payne et al. BLOOD
- Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia
- (2012) Göran Carlsson et al. BRITISH JOURNAL OF HAEMATOLOGY
- High incidence of Fanconi anaemia in patients with a morphological picture consistent with refractory cytopenia of childhood
- (2012) Ayami Yoshimi et al. BRITISH JOURNAL OF HAEMATOLOGY
- Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis
- (2012) Barbara Pressato et al. BRITISH JOURNAL OF HAEMATOLOGY
- Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia
- (2012) John H. Fargo et al. BRITISH JOURNAL OF HAEMATOLOGY
- Mutations in the telomere capping complex in bone marrow failure and related syndromes
- (2012) A. J. Walne et al. HAEMATOLOGICA
- Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome
- (2012) J. Donadieu et al. HAEMATOLOGICA
- Clinical and Molecular Pathophysiology of Shwachman–Diamond Syndrome
- (2012) Kasiani C. Myers et al. HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
- Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
- (2012) Cornelis A Albers et al. NATURE GENETICS
- Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome
- (2011) Yigal Dror et al. Annals of the New York Academy of Sciences
- Ribosomal protein gene deletions in Diamond-Blackfan anemia
- (2011) J. E. Farrar et al. BLOOD
- Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase
- (2011) E. M. Parry et al. BLOOD
- Activation of the unfolded protein response is associated with impaired granulopoiesis in transgenic mice expressing mutant Elane
- (2011) S. Nanua et al. BLOOD
- Orchestrating the nucleases involved in DNA interstrand cross-link (ICL) repair
- (2011) Blanka Sengerová et al. CELL CYCLE
- Hematopoietic stem cell transplantation for severe congenital neutropenia
- (2011) James A. Connelly et al. CURRENT OPINION IN HEMATOLOGY
- The Fanconi anaemia pathway orchestrates incisions at sites of crosslinked DNA
- (2011) Gerry P Crossan et al. JOURNAL OF PATHOLOGY
- Congenital Amegakaryocytic Thrombocytopenia: Clinical Presentation, Diagnosis, and Treatment
- (2011) Matthias Ballmaier et al. SEMINARS IN THROMBOSIS AND HEMOSTASIS
- Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis
- (2010) R. Leung et al. BLOOD
- How I treat Diamond-Blackfan anemia
- (2010) A. Vlachos et al. BLOOD
- Pathophysiology and management of inherited bone marrow failure syndromes
- (2010) Akiko Shimamura et al. BLOOD REVIEWS
- Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation
- (2010) SK Hashmi et al. CLINICAL GENETICS
- SBDS protein expression patterns in the bone marrow
- (2010) Trisha E. Wong et al. PEDIATRIC BLOOD & CANCER
- The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies
- (2009) Emanuela Maserati et al. BRITISH JOURNAL OF HAEMATOLOGY
- Prevalence of mutations inELANE,GFI1,HAX1,SBDS,WASandG6PC3in patients with severe congenital neutropenia
- (2009) Jun Xia et al. BRITISH JOURNAL OF HAEMATOLOGY
- Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome
- (2009) M C J Jongmans et al. LEUKEMIA
- 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
- (2009) A Minelli et al. LEUKEMIA
- TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita
- (2008) Sharon A. Savage et al. AMERICAN JOURNAL OF HUMAN GENETICS
- How Shelterin Protects Mammalian Telomeres
- (2008) Wilhelm Palm et al. Annual Review of Genetics
- HLA-Matched Sibling Hematopoietic Stem Cell Transplantation for Fanconi Anemia: Comparison of Irradiation and Nonirradiation Containing Conditioning Regimens
- (2008) Ricardo Pasquini et al. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
- TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements
- (2008) H.-Y. Du et al. BLOOD
- TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
- (2008) A. J. Walne et al. BLOOD
- Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
- (2008) Adrianna Vlachos et al. BRITISH JOURNAL OF HAEMATOLOGY
- Myocardial function in patients with Shwachman-Diamond syndrome: Aspects to consider before stem cell transplantation
- (2008) Sanna Toiviainen-Salo et al. PEDIATRIC BLOOD & CANCER
- Oral and dental phenotype of dyskeratosis congenita
- (2007) JC Atkinson et al. ORAL DISEASES
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