Published in Blood on January 01, 1997
Molecular Changes and Biomarkers in Chronic Myeloproliferative Disorders | NCT00433862
X-linked clonality testing: interpretation and limitations. Blood (2007) 2.04
Hematopoiesis is not clonal in healthy elderly women. Blood (2008) 1.95
Skewing of X-inactivation ratios in blood cells of aging women is confirmed by independent methodologies. Blood (2009) 1.78
Phenotypic variability within the JAK2 V617F-positive MPD: roles of progenitor cell and neutrophil allele burdens. Exp Hematol (2008) 1.48
Essential thrombocythemia. Orphanet J Rare Dis (2007) 1.32
No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans. J Clin Invest (2008) 1.30
Adult pulmonary Langerhans' cell histiocytosis. Thorax (2000) 0.99
MPN patients harbor recurrent truncating mutations in transcription factor NF-E2. J Exp Med (2013) 0.95
Evaluation of X-Chromosome Inactivation Patterns in Patients with Acute Myeloid Leukemia during Remission. ISRN Hematol (2012) 0.75
Detection and identification of mycobacteria by amplification of mycobacterial DNA. Mol Microbiol (1989) 9.46
Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci U S A (2001) 5.77
Clinical significance of minimal residual disease in childhood acute lymphoblastic leukemia. European Organization for Research and Treatment of Cancer--Childhood Leukemia Cooperative Group. N Engl J Med (1998) 4.95
Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression. Proc Natl Acad Sci U S A (1988) 3.11
Survival benefit of high-dose therapy in poor-risk aggressive non-Hodgkin's lymphoma: final analysis of the prospective LNH87-2 protocol--a groupe d'Etude des lymphomes de l'Adulte study. J Clin Oncol (2000) 2.30
Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene. Eur J Biochem (1987) 1.91
Is sclerosing angiomatoid nodular transformation (SANT) of the splenic red pulp identical to inflammatory pseudotumour? Report of 16 cases. Histopathology (2008) 1.82
Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet (1995) 1.78
Stromal cells from human long-term marrow cultures are mesenchymal cells that differentiate following a vascular smooth muscle differentiation pathway. Blood (1993) 1.71
Early embryonic lethality of H ferritin gene deletion in mice. J Biol Chem (2000) 1.66
Prognostic significance of T-cell phenotype in aggressive non-Hodgkin's lymphomas. Groupe d'Etudes des Lymphomes de l'Adulte (GELA). Blood (1998) 1.65
Association studies between haemochromatosis gene mutations and the risk of cardiovascular diseases. Eur J Clin Invest (2001) 1.51
Monoclonality or oligoclonality of human herpesvirus 8 terminal repeat sequences in Kaposi's sarcoma and other diseases. J Natl Cancer Inst (2000) 1.51
Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria. Science (1986) 1.47
Transcriptional regulation of ferritin H and L subunits in adult erythroid and liver cells from the mouse. Unambiguous identification of mouse ferritin subunits and in vitro formation of the ferritin shells. J Biol Chem (1989) 1.44
Neurologic manifestations of essential thrombocythemia. Ann Intern Med (1983) 1.39
Lymphoma and Epstein-Barr virus DNA in blood during interleukin-2 therapy in antiretroviral-naïve HIV-1-infected patients: a substudy of the ANRS 119 trial. HIV Med (2013) 1.38
The mitochondrial location of protoporphyrinogen oxidase. Eur J Biochem (1985) 1.34
Nasal T-cell lymphoma: a clinicopathologic entity associated with peculiar phenotype and with Epstein-Barr virus. Blood (1993) 1.33
The human EZH2 gene: genomic organisation and revised mapping in 7q35 within the critical region for malignant myeloid disorders. Eur J Hum Genet (2000) 1.32
The 12;21 translocation involving TEL and deletion of the other TEL allele: two frequently associated alterations found in childhood acute lymphoblastic leukemia. Blood (1996) 1.30
Isolation and identification of a cDNA clone coding for rat uroporphyrinogen decarboxylase. Proc Natl Acad Sci U S A (1984) 1.27
Studies of porphyrin synthesis in fibroblasts of patients with congenital erythropoietic porphyria and one patient with homozygous coproporphyria. Biochim Biophys Acta (1980) 1.27
Primary mediastinal large B-cell lymphoma. A clinicopathologic study of 141 cases compared with 916 nonmediastinal large B-cell lymphomas, a GELA ("Groupe d'Etude des Lymphomes de l'Adulte") study. Am J Surg Pathol (1996) 1.27
The mitochondrial localization of coproporphyrinogen III oxidase. Biochem J (1978) 1.25
Distinction between coeliac disease and refractory sprue: a simple immunohistochemical method. Histopathology (2000) 1.22
Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat. Proc Natl Acad Sci U S A (1984) 1.22
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Blood (1999) 1.21
Restricted diversity of V gamma 9-JP rearrangements in unstimulated human gamma/delta T lymphocytes. Eur J Immunol (1992) 1.19
Primary anaplastic large-cell lymphoma in adults: clinical presentation, immunophenotype, and outcome. Blood (1997) 1.19
Molecular epidemiology of human herpesvirus 8 in africa: both B and A5 K1 genotypes, as well as the M and P genotypes of K14.1/K15 loci, are frequent and widespread. Virology (2000) 1.18
Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Nat Genet (1996) 1.18
DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria. Lancet (1987) 1.17
Factor V Leiden related Budd-Chiari syndrome. Gut (2001) 1.17
Some kinetic properties of human red cell uroporphyrinogen decarboxylase. Biochim Biophys Acta (1980) 1.16
Genetic variability and integration of Merkel cell polyomavirus in Merkel cell carcinoma. Virology (2012) 1.16
Lymphangiohemangioma of the mediastinum. Ann Thorac Surg (1997) 1.14
Decreased lymphocyte coproporphyrinogen III oxidase activity in hereditary coproporphyria. Biochem Biophys Res Commun (1977) 1.14
Overexpression of the ferritin H subunit in cultured erythroid cells changes the intracellular iron distribution. Blood (1996) 1.12
The MAL gene is expressed in primary mediastinal large B-cell lymphoma. Blood (1999) 1.11
Association study of the g.8818A>G polymorphism of the human agouti gene with melanoma risk and pigmentary characteristics in a French population. J Dermatol Sci (2005) 1.11
Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure. J Med Genet (2004) 1.10
Benefit of autologous bone marrow transplantation over sequential chemotherapy in poor-risk aggressive non-Hodgkin's lymphoma: updated results of the prospective study LNH87-2. Groupe d'Etude des Lymphomes de l'Adulte. J Clin Oncol (1997) 1.10
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. Biochem Biophys Res Commun (1991) 1.09
The spectrophotometric determination of uroporphyrinogen I synthetase activity. Clin Chim Acta (1976) 1.08
The mouse porphobilinogen deaminase gene. Structural organization, sequence, and transcriptional analysis. J Biol Chem (1989) 1.08
Elderly patients with aggressive non-Hodgkin's lymphoma: disease presentation, response to treatment, and survival--a Groupe d'Etude des Lymphomes de l'Adulte study on 453 patients older than 69 years. J Clin Oncol (1997) 1.06
Harderoporphyria: a variant hereditary coproporphyria. J Clin Invest (1983) 1.06
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. Am J Hum Genet (1996) 1.05
The expression of 16 genes related to the cell of origin and immune response predicts survival in elderly patients with diffuse large B-cell lymphoma treated with CHOP and rituximab. Leukemia (2008) 1.05
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria. J Clin Invest (1990) 1.04
Platelet factor 4 inhibits human megakaryocytopoiesis in vitro. Blood (1990) 1.01
Homozygous case of hereditary coproporphyria. Lancet (1978) 1.01
Detection of minimal residual disease in chronic myeloid leukemia patients after bone marrow transplantation by polymerase chain reaction. Leukemia (1990) 1.01
Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria. Am J Hum Genet (1997) 1.00
Adult lymphoblastic lymphoma: a retrospective analysis of 92 patients under 61 years included in the LNH87/93 trials. Leukemia (2003) 1.00
A simplified method for determination of specific DNA or RNA copy number using quantitative PCR and an automatic DNA sequencer. Biotechniques (1992) 1.00
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease. Am J Hum Genet (1991) 1.00
Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms. Hum Mol Genet (1994) 1.00
Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene). Hum Mutat (2001) 0.98
Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease). Blood (1990) 0.98
Rat porphobilinogen deaminase cDNA: nucleotide sequence of the erythropoietic form. Nucleic Acids Res (1988) 0.97
Lymphatic drainage of heart and lungs: comparison between pig and man. Surg Radiol Anat (2000) 0.97
PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study. Br J Cancer (2006) 0.97
Coproporphyrinogen III oxidase assay. Enzyme (1982) 0.97
Accumulation of porphobilinogen deaminase, uroporphyrinogen decarboxylase, and alpha- and beta-globin mRNAs during differentiation of mouse erythroleukemic cells. Effects of succinylacetone. J Biol Chem (1985) 0.95
Identification of a new mutation responsible for hepatoerythropoietic porphyria. Eur J Clin Invest (1991) 0.95
Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping. Hum Mutat (1999) 0.95
Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda. Hum Genet (1988) 0.95
Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension. Hum Mutat (2000) 0.95
Human interleukin-10 expression in T/natural killer-cell lymphomas: association with anaplastic large cell lymphomas and nasal natural killer-cell lymphomas. Am J Pathol (1998) 0.94
ETV6 is the target of chromosome 12p deletions in t(12;21) childhood acute lymphocytic leukemia. Leukemia (1997) 0.94
Clonal analysis of haemopoietic cells in essential thrombocythaemia. Br J Haematol (1995) 0.94
Human herpes virus 8 (Kaposi's sarcoma herpes virus) and malignant lymphoproliferations in France: a molecular study of 250 cases including two AIDS-associated body cavity based lymphomas. Leukemia (1997) 0.93
Absence of microsatellite instability in transitional cell carcinoma of the bladder. Urology (2000) 0.93
All aggressive lymphoma subtypes do not share similar outcome after front-line autotransplantation: a matched-control analysis by the Groupe d'Etude des Lymphomes de l'Adulte (GELA). Ann Oncol (2004) 0.93
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients. J Med Genet (2000) 0.93
X-chromosome inactivation in healthy females: incidence of excessive lyonization with age and comparison of assays involving DNA methylation and transcript polymorphisms. Clin Chem (1998) 0.93
Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria. Hum Genet (1991) 0.93
Reliability of PCR directly from stool samples: usefulness of an internal standard. Biotechniques (1994) 0.92
Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk. Hum Genet (1980) 0.90
Cytotoxic T cell response against the chimeric ETV6-AML1 protein in childhood acute lymphoblastic leukemia. J Clin Invest (1998) 0.90
Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase. Proc Natl Acad Sci U S A (1994) 0.90
Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping. Hum Mol Genet (1994) 0.89
Porphobilinogen deaminase is unstable in the absence of its substrate. Biochim Biophys Acta (1986) 0.89
Ferrochelatase structural mutant (Fechm1Pas) in the house mouse. Genomics (1993) 0.89
Phase III study of ACVBP versus ACVBP plus rituximab for patients with localized low-risk diffuse large B-cell lymphoma (LNH03-1B). Ann Oncol (2012) 0.89
Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes. Blood (1989) 0.88
Effects of succinylacetone on dimethylsulfoxide-mediated induction of heme pathway enzymes in mouse friend virus-transformed erythroleukemia cells. Exp Cell Res (1984) 0.88
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. Hum Genet (1992) 0.88