相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Preemptive Bone Marrow Transplantation for FANCD1/BRCA2
Nicholas E. Khan et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2015)
Disease evolution and outcomes in familial AML with germline CEBPA mutations
Kiran Tawana et al.
BLOOD (2015)
Bridging to transplant with azacitidine in juvenile myelomonocytic leukemia: a retrospective analysis of the EWOG-MDS study group
Annamaria Cseh et al.
BLOOD (2015)
Alternative donor hematopoietic cell transplantation for Fanconi anemia
Margaret L. MacMillan et al.
BLOOD (2015)
Haematopoietic and immune defects associated with GATA2 mutation
Matthew Collin et al.
BRITISH JOURNAL OF HAEMATOLOGY (2015)
Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms
Chantana Polprasert et al.
CANCER CELL (2015)
Childhood diagnosis of genetic thrombocytopenia with mutation in the ankyrine repeat domain 26 gene
H. Boutroux et al.
EUROPEAN JOURNAL OF PEDIATRICS (2015)
The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes
Michaela Cada et al.
HAEMATOLOGICA (2015)
Mutations of ASXL1 and TET2 in aplastic anemia
Jinbo Huang et al.
HAEMATOLOGICA (2015)
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes
Ibrahim Ghemlas et al.
JOURNAL OF MEDICAL GENETICS (2015)
Germ line ETV6 mutations in familial thrombocytopenia and hematologic malignancy
Michael Y. Zhang et al.
NATURE GENETICS (2015)
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
Leila Noetzli et al.
NATURE GENETICS (2015)
Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia
T. Yoshizato et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Emergence of clonal hematopoiesis in the majority of patients with acquired aplastic anemia
Dana V. Babushok et al.
CANCER GENETICS (2015)
The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes
Michaela Cada et al.
HAEMATOLOGICA (2015)
Mutations of ASXL1 and TET2 in aplastic anemia
Jinbo Huang et al.
HAEMATOLOGICA (2015)
Telomere attrition and candidate gene mutations preceding monosomy 7 in aplastic anemia
Bogdan Dumitriu et al.
BLOOD (2015)
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia
Karthik A. Ganapathi et al.
BLOOD (2015)
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity
Michael Y. Zhang et al.
HAEMATOLOGICA (2015)
Clinical Results of Hypomethylating Agents in AML Treatment
Marjan Cruijsen et al.
JOURNAL OF CLINICAL MEDICINE (2015)
Hematopoietic Stem Cell Transplantation in Children with Refractory Cytopenia of Childhood: Single-Center Experience Using High-Dose Cytarabine Containing Myeloablative and Aplastic Anemia Oriented Reduced-Intensity Conditioning Regimens
Jiro Inagaki et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2014)
Inherited bone marrow failure syndromes in adolescents and young adults
David B. Wilson et al.
ANNALS OF MEDICINE (2014)
Pretransplantation 5-Azacitidine in High-Risk Myelodysplastic Syndrome
Taiga Nishihori et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2014)
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity
Michael A. Spinner et al.
BLOOD (2014)
The evolution of cellular deficiency in GATA2 mutation
Rachel E. Dickinson et al.
BLOOD (2014)
How we treat higher-risk myelodysplastic syndromes
Mikkael A. Sekeres et al.
BLOOD (2014)
Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome
Austin G. Kulasekararaj et al.
BLOOD (2014)
Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes
Daria V. Babushok et al.
BRITISH JOURNAL OF HAEMATOLOGY (2014)
Haematopoietic cell transplantation for acute leukaemia and advanced myelodysplastic syndrome in Fanconi anaemia
Richard Mitchell et al.
BRITISH JOURNAL OF HAEMATOLOGY (2014)
Allogeneic stem cell transplantation for patients with acute myeloid leukaemia developing from severe congenital neutropenia
Yasuhiro Ebihara et al.
BRITISH JOURNAL OF HAEMATOLOGY (2014)
Comparison of Chromosome Breakage in Non-Mosaic and Mosaic Patients with Fanconi Anemia, Relatives, and Patients with Other Inherited Bone Marrow Failure Syndromes
John H. Fargo et al.
CYTOGENETIC AND GENOME RESEARCH (2014)
Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes
Amy E. DeZern et al.
EUROPEAN JOURNAL OF HAEMATOLOGY (2014)
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation
Robert R. West et al.
HAEMATOLOGICA (2014)
Genetic characterization of acquired aplastic anemia by targeted sequencing
Michael Heuser et al.
HAEMATOLOGICA (2014)
Sequential treatment for allogeneic hematopoietic stem cell transplantation in Fanconi anemia with acute myeloid leukemia
Alexis Talbot et al.
HAEMATOLOGICA (2014)
Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation
Dominique Bluteau et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
C/EBPα : critical at the origin of leukemic transformation
Jae-Seok Roe et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2014)
Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies
Jean-Laurent Casanova et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2014)
Pediatric Myelodysplastic Syndromes: They Do Exist!
Taly Glaubach et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2014)
Impaired hematopoietic differentiation of RUNX1-mutated induced pluripotent stem cells derived from FPD/AML patients
M. Sakurai et al.
LEUKEMIA (2014)
Age-related mutations associated with clonal hematopoietic expansion and malignancies
Mingchao Xie et al.
NATURE MEDICINE (2014)
Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence
Giulio Genovese et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes
Siddhartha Jaiswal et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
Stem cell origin of myelodysplastic syndromes
H. K. Elias et al.
ONCOGENE (2014)
Inherited Predisposition to Acute Myeloid Leukemia
Lucy A. Godley
SEMINARS IN HEMATOLOGY (2014)
Recurrent CDC25C mutations drive malignant transformation in FPD/AML
Akihide Yoshimi et al.
NATURE COMMUNICATIONS (2014)
Hematopoietic Stem Cell Transplantation in Children and Young Adults with Secondary Myelodysplastic Syndrome and Acute Myelogenous Leukemia after Aplastic Anemia
Ayami Yoshimi et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2013)
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia
Marlene Pasquet et al.
BLOOD (2013)
A missense mutation in ANKRD26 segregates with thrombocytopenia
Saad A. Al Daama et al.
BLOOD (2013)
ANKRD26-related thrombocytopenia and myeloid malignancies
Patrizia Noris et al.
BLOOD (2013)
Low dose decitabine in very high risk relapsed or refractory acute myeloid leukaemia in children and young adults
Christine L. Phillips et al.
BRITISH JOURNAL OF HAEMATOLOGY (2013)
Concordant acute myeloblastic leukemia in monozygotic twins with germline and shared somatic mutations in the gene for CCAAT-enhancer-binding protein α with 13 years difference at onset
Marusa Debeljak 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)
Allogeneic Hematopoietic Cell Transplantation for Fanconi Anemia in Patients With Pretransplantation Cytogenetic Abnormalities, Myelodysplastic Syndrome, or Acute Leukemia
Mouhab Ayas et al.
JOURNAL OF CLINICAL ONCOLOGY (2013)
Low frequency clonal mutations recoverable by deep sequencing in patients with aplastic anemia
A. A. Lane et al.
LEUKEMIA (2013)
Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes
Jane E. Churpek et al.
LEUKEMIA & LYMPHOMA (2013)
Genomic Characterization of the Inherited Bone Marrow Failure Syndromes
Payal P. Khincha et al.
SEMINARS IN HEMATOLOGY (2013)
Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombocytopenia
Vittorio Necchi et al.
THROMBOSIS AND HAEMOSTASIS (2013)
Recognizing familial myeloid leukemia in adults
Eric M. Nickels et al.
THERAPEUTIC ADVANCES IN HEMATOLOGY (2013)
Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia
Michael Kirwan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
Jan Kazenwadel et al.
BLOOD (2012)
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia
Harriet Holme et al.
BRITISH JOURNAL OF HAEMATOLOGY (2012)
Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome
Shefali Parikh 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)
Favorable outcome of patients who have 13q deletion: a suggestion for revision of the WHO 'MDS-U' designation
Kohei Hosokawa et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2012)
Conditional Gata2 inactivation results in HSC loss and lymphatic mispatterning
Kim-Chew Lim et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
Familial Aggregation of Acute Myeloid Leukemia and Myelodysplastic Syndromes
Lynn R. Goldin et al.
JOURNAL OF CLINICAL ONCOLOGY (2012)
Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML
Andrzej Rochowski et al.
PEDIATRIC BLOOD & CANCER (2012)
Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2
Tommaso Pippucci et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Prognostic impact, concurrent genetic mutations, and gene expression features of AML with CEBPA mutations in a cohort of 1182 cytogenetically normal AML patients: further evidence for CEBPA double mutant AML as a distinctive disease entity
Erdogan Taskesen et al.
BLOOD (2011)
First report of multiple CEBPA mutations contributing to donor origin of leukemia relapse after allogeneic hematopoietic stem cell transplantation
Haowen Xiao et al.
BLOOD (2011)
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families
Patrizia Noris et al.
BLOOD (2011)
Frequent loss of HLA alleles associated with copy number-neutral 6pLOH in acquired aplastic anemia
Takamasa Katagiri et al.
BLOOD (2011)
Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies
Ramon V. Tiu et al.
BLOOD (2011)
Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita
A. C. Dietz et al.
BONE MARROW TRANSPLANTATION (2011)
Advances in the prognostication and management of advanced MDS in children
Henrik Hasle et al.
BRITISH JOURNAL OF HAEMATOLOGY (2011)
Familial myelodysplastic syndromes: a review of the literature
Elena Liew et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2011)
Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications
Katherine R. Calvo et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2011)
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
Pia Ostergaard et al.
NATURE GENETICS (2011)
Hematopoietic Stem Cell Transplantation in Severe Congenital Neutropenia
G. Carlsson et al.
PEDIATRIC BLOOD & CANCER (2011)
Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis
Alix E. Seif
CANCER GENETICS (2011)
Emberger Syndrome-Primary Lymphedema With Myelodysplasia: Report of Seven New Cases
Sahar Mansour et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia
Donald C. Vinh et al.
BLOOD (2010)
The Epidemiology of Myelodysplastic Syndromes
Mikkael A. Sekeres
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2010)
Inherited Cancer Syndromes in Children and Young Adults
John A. D'Orazio
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (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)
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)
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder
Claude Preudhomme et al.
BLOOD (2009)
Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation
A. Renneville et al.
LEUKEMIA (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)
Meta-analysis study of glutathione-S-transferases (GSTM1, GSTP1, and GSTT1) gene polymorphisms and risk of acute myeloid leukemia
Prabhavathy Das et al.
LEUKEMIA & LYMPHOMA (2009)
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy
Carolyn J. Owen et al.
BLOOD (2008)
Inherited aplastic anaemias/bone marrow failure syndromes
Inderjeet Dokal et al.
BLOOD REVIEWS (2008)
Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome
D. Bhatla et al.
BONE MARROW TRANSPLANTATION (2008)
Clinical phenotype of germline RUNX1 haploinsufficiency:: from point mutations to large genomic deletions
Mylene Beri-Dexheimer et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
Somatic CEBPA Mutations Are a Frequent Second Event in Families With Germline CEBPA Mutations and Familial Acute Myeloid Leukemia
Thomas Pabst et al.
JOURNAL OF CLINICAL ONCOLOGY (2008)
Familial myelodysplasia and acute myeloid leukaemia - a review
Carolyn Owen et al.
BRITISH JOURNAL OF HAEMATOLOGY (2008)
Myelodysplastic syndromes - Incidence and survival in the United States
Xiaomei Ma et al.
CANCER (2007)
Myelodysplastic syndromes in patients younger than age 50
Andrea Kuendgen et al.
JOURNAL OF CLINICAL ONCOLOGY (2006)
Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7
M Steele et al.
PEDIATRIC BLOOD & CANCER (2005)
Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis
NP Rodrigues et al.
BLOOD (2005)
Stem cell transplantation in patients with severe congenital neutropenia with evidence of leukemic transformation
SW Choi et al.
BONE MARROW TRANSPLANTATION (2005)
Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway
J Soulier et al.
BLOOD (2005)
Evolution of clonal cytogenetic abnormalities in aplastic anemia
JP Maciejewski et al.
LEUKEMIA & LYMPHOMA (2004)
Brief report - Mutation of CEBPA in familial acute myeloid leukemia
ML Smith et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia
P Ganly et al.
LEUKEMIA & LYMPHOMA (2004)
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA
PF Fogarty et al.
LANCET (2003)
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis
J Michaud et al.
BLOOD (2002)
Somatic mosaicism in Fanconi anemia: Evidence of genotypic reversion in lymphohematopoietic stem cells
JJ Gregory et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Poor metabolizers at the cytochrome P450 2D6 and 2C19 loci are at increased risk of developing adult acute leukaemia
PL Roddam et al.
PHARMACOGENETICS (2000)
Polymorphic variation within the glutathione S-transferase genes and risk of adult acute leukaemia
S Rollinson et al.
CARCINOGENESIS (2000)