Congenital bone marrow failure syndromes

The American Journal of Human Genetics

1950 • 5,048 citations

Genetic variations of Drosophila melanogaster

1967 • 2,612 citations

Hematopoietic Reconstitution in a Patient with Fanconi's Anemia by Means of Umbilical-Cord Blood from an HLA-Identical Sibling

1989 • 2,107 citations

Induction of apoptosis in fibroblasts by IL-1β-converting enzyme, a mammalian homolog of the C. elegans cell death gene ced-3

1993 • 1,387 citations

A telomerase component is defective in the human disease dyskeratosis congenita

1999 • 1,135 citations

Iron-Chelating Therapy and the Treatment of Thalassemia

1997 • 1,106 citations

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

2001 • 955 citations

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

1998 • 935 citations

Structure, Function, and Genetics of Ribosomes

1986 • 852 citations

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

1999 • 783 citations

Experimental Hematology

2003 • 736 citations

Successful transplantation of HLA-matched and HLA-mismatched umbilical cord blood from unrelated donors: analysis of engraftment and acute graft-versus-host disease

1996 • 630 citations

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

2000 • 546 citations

RUBELLA VACCINATION

1973 • 502 citations

Effects of Recombinant Human Granulocyte Colony-Stimulating Factor on Neutropenia in Patients with Congenital Agranulocytosis

1989 • 495 citations

Mutations in the Gene for the Granulocyte Colony-Stimulating–Factor Receptor in Patients with Acute Myeloid Leukemia Preceded by Severe Congenital Neutropenia

1995 • 471 citations

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis

1999 • 463 citations

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

1990 • 456 citations

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1979 • 426 citations

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA

1996 • 411 citations

Synergy between Interferon-γ and Tumor Necrosis Factor-α in Transcriptional Activation Is Mediated by Cooperation between Signal Transducer and Activator of Transcription 1 and Nuclear Factor κB

1997 • 410 citations

Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for turner syndrome

1990 • 390 citations

ASSOCIATION OF ANDROGENIC-ANABOLIC STEROID THERAPY WITH DEVELOPMENT OF HEPATOCELLULAR CARCINOMA

1972 • 374 citations

An IRF-1-dependent pathway of DNA damage-induced apoptosis in mitogen-activated T lymphocytes

1997 • 364 citations

The Fanconi anaemia group G gene FANCG is identical with XRCC9

1998 • 347 citations

The box H+ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase

1998 • 336 citations

Positional cloning of the Fanconi anaemia group A gene

1996 • 295 citations

Evidence for at Least Eight Fanconi Anemia Genes

1997 • 292 citations

Differential effects of granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia

1990 • 289 citations

Germ cell defects and hematopoietic hypersensitivity to gamma- interferon in mice with a targeted disruption of the Fanconi anemia C gene

1996 • 265 citations

Hematology of Infancy and Childhood

1994 • 262 citations

Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia

1996 • 261 citations

Fanconi's anemia and malignancies

1996 • 254 citations

NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria.

1994 • 249 citations

Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia

1999 • 249 citations

Distinct cytoplasmic regions of the human granulocyte colony-stimulating factor receptor involved in induction of proliferation and maturation.

1993 • 246 citations

Aplastic Anemia: Acquired and Inherited

1994 • 245 citations

Fanconi Anemia Proteins FANCA, FANCC, and FANCG/XRCC9 Interact in a Functional Nuclear Complex

1999 • 243 citations

Bone Marrow Transplantation for Fanconi Anemia

1989 • 242 citations

Germ cell defects and hematopoietic hypersensitivity to gamma- interferon in mice with a targeted disruption of the Fanconi anemia C gene

1996 • 233 citations

Bone marrow transplantation for Fanconi anemia

1995 • 212 citations

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

1999 • 212 citations

A Drosophila Minute gene encodes a ribosomal protein

1985 • 211 citations

The Fanconi anaemia proteins, FAA and FAC interact to form a nuclear complex

1997 • 207 citations

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

1999 • 193 citations

Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia.

1994 • 189 citations

CONGENITAL HYPOPLASTIC ANEMIA

2009 • 188 citations

Synergistic Activation of NF-κB by Tumor Necrosis Factor Alpha and Gamma Interferon via Enhanced IκBα Degradation and De Novo IκBβ Degradation

1997 • 179 citations

Radiosensitivity in Fanconi anaemia: application to the conditioning regimen for bone marrow transplantation

1983 • 179 citations

Inactivation of the Fanconi Anemia Group C Gene Augments Interferon-γ–Induced Apoptotic Responses in Hematopoietic Cells

1997 • 177 citations

Bone Marrow Transplantation

1995 • 174 citations

A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews

1993 • 171 citations

Drosophila homolog of the human S6 ribosomal protein is required for tumor suppression in the hematopoietic system.

1992 • 167 citations

Convergence of TNF and IFN signalling pathways through synergistic induction of IRF-1/ISGF-2 is mediated by a composite GAS/ B promoter element

1997 • 165 citations

Erythroid Precursors in Congenital Hypoplastic (Diamond-Blackfan) Anemia

1978 • 163 citations

Congenital Hypoplastic Anemia

1975 • 162 citations

Abnormal Microsomal Detoxification Implicated in Fanconi Anemia Group C by Interaction of the FAC Protein With NADPH Cytochrome P450 Reductase

1998 • 160 citations

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

1996 • 159 citations

A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA

1999 • 158 citations

Congenital Agranulocytosis: Prolonged Survival and Terminal Acute Leukemia

1970 • 154 citations

ANAEMIA OF INFANCY AND EARLY CHILDHOOD

1936 • 154 citations

Diamond-Blackfan Syndrome: Lymphocyte-Mediated Suppression of Erythropoiesis

1976 • 149 citations

Clinical Relevance of Point Mutations in the Cytoplasmic Domain of the Granulocyte Colony-Stimulating Factor Receptor Gene in Patients With Severe Congenital Neutropenia

1997 • 147 citations

Monosomy 7 and activating RAS mutations accompany malignant transformation in patients with congenital neutropenia

1995 • 143 citations

The Fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation

1998 • 139 citations

Functional Activity of the Fanconi Anemia Protein FAA Requires FAC Binding and Nuclear Localization

1998 • 138 citations

Severe chronic neutropenia: pathophysiology and therapy.

1997 • 135 citations

Engraftment of Hematopoietic Progenitor Cells Transduced with the Fanconi Anemia Group C Gene (FANCC)

1999 • 134 citations

Defective Internalization and Sustained Activation of Truncated Granulocyte Colony-Stimulating Factor Receptor Found in Severe Congenital Neutropenia/Acute Myeloid Leukemia

1999 • 132 citations

Mutation analysis of the Fanconi anemia gene FACC.

1994 • 130 citations

Increased serum levels of granulocyte colony-stimulating factor in patients with severe congenital neutropenia

1991 • 127 citations

Sequence variation in the Fanconi anemia gene FAA

1997 • 123 citations

FANCONI'S ANAEMIA AND ITS VARIABILITY

1993 • 121 citations

Diamond-Blackfan Anemia Natural History and Sequelae of Treatment

1996 • 118 citations

Elevated Erythrocyte Adenosine Deaminase Activity in Congenital Hypoplastic Anemia

1983 • 117 citations

Differential expression of S19 ribosomal protein, laminin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation.

1992 • 109 citations

Testosterone-Induced Remission in Aplastic Anemia

1959 • 104 citations

Mutations in the Drosophila Gene Encoding Ribosomal Protein S6 Cause Tissue Overgrowth

1993 • 101 citations

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

1999 • 101 citations

Dyskeratosis Congenita

1992 • 97 citations

Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

1997 • 96 citations

Flow cytometric characterization of the response of Fanconi's anemia cells to mitomycin C treatment

1982 • 96 citations

Deletion of a Critical Internalization Domain in the G-CSFR in Acute Myelogenous Leukemia Preceded by Severe Congenital Neutropenia

1999 • 91 citations

Erythroid colony growth in congenital hypoplastic anemia.

1976 • 88 citations

Congenital agranulocytosis terminating in acute myelomonocytic leukemia

1979 • 88 citations

Impaired survival of bone marrow hematopoietic progenitor cells in cyclic neutropenia

2001 • 86 citations

Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia

1986 • 85 citations

Bone-Marrow Microenvironment Defect in Congenital Hypoplastic Anemia

1980 • 83 citations

Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond‐Blackfan anaemia and other haematologic diseases

1988 • 83 citations

Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity

1998 • 81 citations

Dyskeratosis congenita: an inherited bone marrow failure syndrome

1996 • 73 citations

Expression of receptors for granulocyte colony-stimulating factor on neutrophils from patients with severe congenital neutropenia and cyclic neutropenia

1992 • 67 citations

Mutations in the Drosophila gene encoding ribosomal protein S6 cause tissue overgrowth.

1993 • 64 citations

Subtyping Analysis of Fanconi Anemia by Immunoblotting and Retroviral Gene Transfer

1998 • 63 citations

Mutations of the Fanconi Anemia Group A Gene (FAA) in Italian Patients

1997 • 62 citations

Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.

1997 • 57 citations

Ribosomal Heterogeneity from Chromatin Diminution in Ascaris lumbricoides

1994 • 55 citations

Granulocyte colony-stimulating factor (G-CSF) production and G-CSF receptor structure in patients with congenital neutropenia

1994 • 54 citations

Overexpression of the fanconi anemia group C gene (FAC) protects hematopoietic progenitors from death induced by Fas-mediated apoptosis.

1998 • 51 citations

Marrow transplantation for Fanconi anemia with or without leukemic transformation: an update of the Seattle experience.

1992 • 51 citations

Congenital pancytopenia associated with multiple congenital anomalies (Fanconi type); review of the literature and report of a twenty-year-old female with a ten-year follow-up and apparently good response to splenectomy.

1955 • 50 citations

Diamond-Blackfan syndrome: evidence against cell-mediated erythropoietic suppression

1978 • 49 citations

Recombinant human granulocyte-colony-stimulating factor in the treatment of patients with neutropenia

1992 • 49 citations

Unrelated donor bone marrow transplantation for Fanconi anemia.

1996 • 47 citations

Prolonged administration of granulocyte colony-stimulating factor (filgrastim) to patients with Fanconi anemia: a pilot study

1996 • 47 citations

Blood mononuclear cells from patients with severe congenital neutropenia are capable of producing granulocyte colony-stimulating factor

1991 • 46 citations

Evaluation of granulocyte-macrophage colony-stimulating factor for treatment of pancytopenia in children with Fanconi anemia

1994 • 45 citations

Clonal chromosomal abnormalities in Fanconi's anaemia: what do they really mean?

1993 • 43 citations

The protein tyrosine kinase JAK2 is activated in neutrophils from patients with severe congenital neutropenia

1995 • 43 citations

Long‐term survival and cure after marrow transplantation for congenital hypoplastic anaemia (Diamond‐Blackfan syndrome)

1993 • 41 citations

High Adenosine Deaminase Level Among Healthy Probands of Diamond Blackfan Anemia (DBA) Cosegregates With the DBA Gene Region on Chromosome 19q13

1998 • 41 citations

A Case of Wiskott-Aldrich Syndrome With Dual Mutations in Exon 10 of the WASP Gene: An Additional De Novo One-Base Insertion, Which Restores Frame Shift Due to an Inherent One-Base Deletion, Detected in the Major Population of the Patient's Peripheral Blood Lymphocytes

1998 • 41 citations

High-dose intravenous methylprednisolone therapy for patients with Diamond-Blackfan anemia refractory to conventional doses of prednisone

1995 • 41 citations

Age‐related alterations in erythroid and granulopoietic progenitors in Diamond‐Blackfan anaemia

1994 • 41 citations

Diagnosis and Management of Red Cell Aplasia in Children

1987 • 39 citations

Retroviral Mediated Gene Transfer of the Fanconi Anemia Complementation Group C Gene to Hematopoietic Progenitors of Group C Patients. National Institutes of Health, Bethesda, Maryland

1997 • 39 citations

Pancytopenia with Congenital Defects (Fanconi's Anaemia)

1960 • 39 citations

The hemopoietic action of androstanes.

1971 • 38 citations

Successful hematopoietic reconstitution by transplantation of umbilical cord blood cells in a transfusion-dependent child with Diamond–Blackfan anemia

1997 • 32 citations

Treatment Trial with Recombinant Human Erythropoietin in Children with Congenital Hypoplastic Anemia

2015 • 32 citations

DIAMOND-BLACKFAN ANEMIA

1997 • 31 citations

Molecular and Genetic Analyses of Two Patients with Pearson's Marrow-Pancreas Syndrome

1993 • 31 citations

Germline alteration by gene therapy: assessing and reducing the risks

1998 • 30 citations

Diamond‐Blackfan anaemia: three patterns of in vitro response to haemopoietic growth factors

1995 • 30 citations

Functional Correction of Fanconi Anemia Group A Hematopoietic Cells by Retroviral Gene Transfer

1997 • 29 citations

REVIEW ARTICLE

1955 • 27 citations

PURE RED CELL APLASIA

1983 • 24 citations

Allogeneic bone marrow transplants for Fanconi anemia. A preliminary report from the International Bone Marrow Transplant Registry.

1992 • 23 citations

Bone marrow transplantation

1992 • 21 citations

Aplastic and Hypoplastic Anemia

1980 • 20 citations

Fanconi's anemia and malignancies

1996 • 20 citations

Unrelated donor bone marrow transplantation in Fanconi anaemia: the Leiden experience

1998 • 19 citations

Gene transfer for the eventual treatment of Fanconi's anemia.

1998 • 19 citations

Cord blood stem cell transplantation for Diamond–Blackfan anemia

1997 • 18 citations

The Ribosomal Genes of Yeast and Their Regulation

1986 • 17 citations

Evaluation of growth and of endocrine systems in testosterone-corticosteroid-treated patients with aplastic anemia

1967 • 17 citations

[Correction of fatal genetic diseases using bone marrow transplantation. 2].

1991 • 16 citations

Sustained response after recombinant interleukin-3 in diamond blackfan anemia [letter; comment]

1994 • 15 citations

Bone marrow failure in children

1996 • 15 citations

Sustained response after recombinant interleukin-3 in diamond blackfan anemia [letter; comment]

1994 • 13 citations

Characterization of a novel Minute-locus in Drosophila melanogaster: a putative ribosomal protein gene

1990 • 12 citations

Successful bone marrow transplant for Fanconi anaemia in transformation.

1994 • 10 citations

[Fanconi's disease and cancer of the liver].

1974 • 7 citations

[Congenital hypoplastic anemia in The Netherlands (1963-1989)].

1991 • 7 citations

Tyrosine Phosphorylation of Shc Proteins in Normal CD34+ Progenitor Cells and Leukemic Cells

1999 • 5 citations

Bilateral basal ganglial necrosis after allogeneic bone marrow transplantation in a child with Kostmann syndrome

1999 • 5 citations