Search Results - "Rooimans, M A"
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The Fanconi anaemia group G gene FANCG is identical with XRCC9
Published in Nature genetics (01-11-1998)“…Fanconi anemia (FA) is an autosomal recessive disease with diverse clinical symptoms including developmental anomalies, bone marrow failure and early…”
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2
The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM
Published in Nature genetics (01-01-2000)“…Fanconi anaemia (FA) is a chromosomal instability syndrome with autosomal recessive inheritance. We have identified the gene mutated in Fanconi anaemia group F…”
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3
Genetic determinants of micronucleus formation in vivo
Published in Nature (London) (07-03-2024)“…Genomic instability arising from defective responses to DNA damage 1 or mitotic chromosomal imbalances 2 can lead to the sequestration of DNA in aberrant…”
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4
Evidence for at Least Eight Fanconi Anemia Genes
Published in American journal of human genetics (01-10-1997)“…Fanconi anemia (FA) is an autosomal recessive chromosomal breakage disorder with diverse clinical symptoms including progressive bone marrow failure and…”
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Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA
Published in Nature genetics (01-11-1996)“…Fanconi anaemia (FA) is an autosomal recessive disorder characterized by a diversity of clinical symptoms including skeletal abnormalities, progressive bone…”
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Complementation Analysis in Fanconi Anemia: Assignment of the Reference FA-H Patient to Group A
Published in American journal of human genetics (01-09-2000)“…Fanconi anemia (FA) is an autosomal recessive disorder with diverse clinical symptoms and extensive genetic heterogeneity. Of eight FA genes that have been…”
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Localization of the Gene for Rapidly Progressive Autosomal Dominant Parkinsonism and Dementia with Pallido-Ponto-Nigral Degeneration to Chromosome 17q21
Published in Human molecular genetics (01-01-1996)“…Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration (PPND) is a neurodegenerative disorder which begins…”
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Somatic Mosaicism in Fanconi Anemia: Molecular Basis and Clinical Significance
Published in European journal of human genetics : EJHG (01-05-1997)“…Approximately 25% of patients with Fanconi anemia (FA) have evidence of spontaneously occurring mosaicism as manifest by the presence of two subpopulations of…”
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Tailoring heated intraperitoneal mitomycin C for peritoneal metastases originating from colorectal carcinoma: a translational approach to improve survival
Published in British journal of cancer (03-03-2015)“…Background: Patients with peritoneal metastases (PMs) originating from colorectal carcinoma (CRC) are curatively treated by cytoreductive surgery (CRS) and…”
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10
Classification of Fanconi Anemia Patients by Complementation Analysis: Evidence for a Fifth Genetic Subtype
Published in Blood (15-09-1995)“…Fanconi anemia (FA) is an autosomal recessive disease with diverse clinical symptoms, life-threatening progressive panmyelopathy, and cellular hypersensitivity…”
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11
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA
Published in Nature genetics (01-12-1996)Get full text
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12
Apparent absence of BRCA2 protein in a proportion of acute myeloid leukemia cell lines
Published in Leukemia (01-11-2004)Get full text
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13
Clonally related but phenotypically divergent human cancer cell lines derived from a single follicular thyroid cancer recurrence (TT2609)
Published in Thyroid (New York, N.Y.) (01-10-2001)“…Starting from different regional samples taken from a heterogeneous follicular thyroid cancer recurrence in a male patient, a series of cell cultures was…”
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The Chinese hamster cell mutant V-H4 is homologous to Fanconi anemia (complementation group A)
Published in Cytogenetics and cell genetics (1991)“…V-H4, a mitomycin C (MMC)-sensitive Chinese hamster cell mutant, is phenotypically very similar to Fanconi anemia (FA) cells. Genetic complementation analysis…”
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Genetic diversity of mitomycin C-hypersensitive Chinese hamster cell mutants : a new complementation group with chromosomal instability
Published in Somatic cell and molecular genetics (01-09-1993)“…A Chinese hamster cell mutant (V-C8) isolated previously, which is approximately 100 fold more sensitive to mitomycin C (MMC) than its parental wild-type V79…”
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Cloning and characterization of murine fanconi anemia group A gene: Fanca protein is expressed in lymphoid tissues, testis, and ovary
Published in Mammalian genome (01-04-2000)“…Fanconi anemia (FA) is an autosomal recessive disorder in humans characterized by bone marrow failure, cancer predisposition, and cellular hypersensitivity to…”
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Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia c gene, FAC
Published in Human mutation (1996)“…Fanconi anemia (FA) is a rare autosomal recessive disorder with diverse clinical symptoms, including skeletal abnormalities, hyperpigmentation of the skin, and…”
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Isolation of a cDNA Representing the Fanconi Anemia Complementation Group E Gene
Published in American journal of human genetics (01-11-2000)“…Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome with at least seven different complementation groups. Four FA genes ( FANCA,…”
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The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
Published in Nature genetics (01-09-2005)“…The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia…”
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X-linked inheritance of Fanconi anemia complementation group B
Published in Nature genetics (01-11-2004)“…Fanconi anemia is an autosomal recessive syndrome characterized by diverse clinical symptoms, hypersensitivity to DNA crosslinking agents, chromosomal…”
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