Search Results - "Rooimans, M A"

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    The Fanconi anaemia group G gene FANCG is identical with XRCC9 by Carreau, Madeleine, Alon, Noa, Hoehn, Holger, Arwert, Fré, Digweed, Martin, Rooimans, Martin A, Buchwald, Manuel, Demuth, Ilja, Schindler, Detlev, Bender, Olaf, van Berkel, Carola G.M, Joenje, Hans, Waisfisz, Quinten, Pronk, Jan C, de Winter, Johan P, Bosnoyan-Collins, Lucine

    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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    The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM by Scheper, Rik J, de Winter, Johan P, van der Weel, Laura, Alon, Noa, Waisfisz, Quinten, Pronk, Jan C, Mathew, Christopher G, Buchwald, Manuel, Rooimans, Martin A, Hoatlin, Maureen E, Arwert, Fré, Joenje, Hans, de Groot, Jan, van Berkel, Carola G.M, Bosnoyan-Collins, Lucine, Zhi, Yu

    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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    Evidence for at Least Eight Fanconi Anemia Genes by Joenje, Hans, Oostra, Anneke B., Wijker, Mario, di Summa, Franca M., van Berkel, Carola G.M., Rooimans, Martin A., Ebell, Wolfram, van Weel, Margreet, Pronk, Jan C., Buchwald, Manuel, Arwert, Fré

    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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    Complementation Analysis in Fanconi Anemia: Assignment of the Reference FA-H Patient to Group A by Joenje, Hans, Levitus, Marieke, Waisfisz, Quinten, D'Andrea, Alan, Garcia-Higuera, Irene, Pearson, Tommy, van Berkel, Carola G.M., Rooimans, Martin A., Morgan, Neil, Mathew, Christopher G., Arwert, Fré

    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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    Somatic Mosaicism in Fanconi Anemia: Molecular Basis and Clinical Significance by Lo Ten Foe, J.R., Kwee, M.L. <b, Rooimans, M.A., Oostra, A.B., Veerman, A.J.R., van Weel, M., Pauli, R.M., Shahidi, N.T., Dokal, I., Roberts, I., Altay, C., Gluckman, E., Gibson, R.A., Mathew, C.G, Arwert, F., Joenje, H.

    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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    Classification of Fanconi Anemia Patients by Complementation Analysis: Evidence for a Fifth Genetic Subtype by Joenje, Hans, Foe, Jerome R.Lo Ten, Oostra, Anneke B., Berkel, Carola G.M. van, Rooimans, Martin A., Schroeder-Kurth, Traute, Wegner, Rolf-Dieter, Gille, Johan J.P., Buchwald, Manuel, Arwert, Fre

    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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    Clonally related but phenotypically divergent human cancer cell lines derived from a single follicular thyroid cancer recurrence (TT2609) by Geldof, A A, Versteegh LRT, van Mourik, J C, Rooimans, M A, Arwert, F, Hermsen, M A, Schadee-Eestermans, I L, van Dongen, G A, van der Valk, P, van der Clement EHP, Lips, P, Teule, G J

    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) by Arwert, F, Rooimans, M A, Westerveld, A, Simons, J W, Zdzienicka, M Z

    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 by OVERKAMP, W. J. I, ROOIMANS, M. A, NEUTEBOOM, I, TELLEMAN, P, ARWERT, F, ZDZIENICKA, M. Z

    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 by van de Vrugt, H J, Cheng, N C, de Vries, Y, Rooimans, M A, de Groot, J, Scheper, R J, Zhi, Y, Hoatlin, M E, Joenje, H, Arwert, F

    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 by Lo Ten Foe, Jerome R., Rooimans, Martin A., Joenje, Hans, Arwert, Fré

    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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    X-linked inheritance of Fanconi anemia complementation group B by Wang, Weidong, Joenje, Hans, Meetei, Amom Ruhikanta, Levitus, Marieke, Xue, Yutong, Medhurst, Annette L, Zwaan, Michel, Ling, Chen, Rooimans, Martin A, Bier, Patrick, Hoatlin, Maureen, Pals, Gerard, de Winter, Johan P

    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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