1 to 10 of 12 literature results

• Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.

  We identified overlapping homozygous regions within the DFNB84 locus in a nonconsanguineous Dutch family and a consanguineous Moroccan family with sen…

  Authors: Margit Schraders, Jaap Oostrik, Patrick L M Huygen, Tim M Strom, Erwin van Wijk, Henricus P M Kunst, Lies H Hoefsloot, Cor W R J Cremers, Ronald J C Admiraal, Hannie Kremer

  Source: American journal of human genetics. 2010 Apr 9

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• Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

  We identified overlapping homozygous regions within the DFNB25 locus in two Dutch and ten Pakistani families with sensorineural autosomal-recessive no…

  Authors: Margit Schraders, Kwanghyuk Lee, Jaap Oostrik, Patrick L M Huygen, Ghazanfar Ali, Lies H Hoefsloot, Joris A Veltman, Frans P M Cremers, Sulman Basit, Muhammad Ansar,…

  Source: American journal of human genetics. 2010 Feb 12

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• Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

  We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing lo…

  Authors: Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders, Gudrun Nürnberg, Majida Charif, Ronald J C Admiraal, Simon von Ameln, Ingelore Baessmann, Mostafa Kandil,…

  Source: American journal of human genetics. 2010 Mar 12

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• Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization.

  Mantle cell lymphoma (MCL) is an aggressive, highly proliferative B-cell non-Hodgkin lymphoma, characterized by the specific t(11;14)(q13;q32) translo…

  Authors: Margit Schraders, Rolph Pfundt, Huub M P Straatman, Irene M Janssen, Ad Geurts van Kessel, Eric F P M Schoenmakers, Johan H J M van Krieken, Patricia J T A Groenen

  Source: Blood. 2005 Feb 15

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• Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes.

  Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation and several other cytogenetic aberrations, including heterozygous l…

  Authors: Margit Schraders, Pedro Jares, Silvia Bea, Eric F P M Schoenmakers, Johan H J M van Krieken, Elias Campo, Patricia J T A Groenen

  Source: British journal of haematology. 2008 Oct

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• High-resolution genomic profiling of pediatric lymphoblastic lymphomas reveals subtle differences with pediatric acute lymphoblastic leukemias in the B-lineage.

  Lymphoblastic lymphoma (LBL) is one of the most frequent occurring pediatric non-Hodgkin lymphomas. In the WHO classification scheme, pediatric LBL is…

  Authors: Margit Schraders, Simon V van Reijmersdal, Eveline J Kamping, Johan H J M van Krieken, Ad Geurts van Kessel, Patricia J T A Groenen, Peter M Hoogerbrugge, Roland P Kuiper

  Source: Cancer genetics and cytogenetics. 2009 May

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• Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle-cell lymphomas.

  BACKGROUND AND OBJECTIVES: Mantle cell lymphoma (MCL), a mature B-cell neoplasm, is genetically characterized by the translocation t(11;14)(q13;q32). …

  Authors: Tim Ripperger, Nils von Neuhoff, Kathrin Kamphues, Makito Emura, Ulrich Lehmann, Marcel Tauscher, Margit Schraders, Patricia Groenen, Britta Skawran, Cornelia Rudolph,…

  Source: Haematologica. 2007 Apr

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• Hypermutation in mantle cell lymphoma does not indicate a clinical or biological subentity.

  Mantle cell lymphoma is a prime example of a well-defined entity based on morphology, phenotype, genetics and also clinical features. Although most pa…

  Authors: Margit Schraders, Sabine Oeschger, Philip M Kluin, Konnie Hebeda, Ed Schuuring, Patricia J T A Groenen, Martin-Leo Hansmann, Johan H J M van Krieken

  Source: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 2009 Mar

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• SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.

  Mammalian mitochondria contain about 1100 proteins, nearly 300 of which are uncharacterized. Given the well-established role of mitochondrial defects …

  Authors: Huai-Xiang Hao, Oleh Khalimonchuk, Margit Schraders, Noah Dephoure, Jean-Pierre Bayley, Henricus Kunst, Peter Devilee, Cor W R J Cremers, Joshua D Schiffman, Brandon G Bentz,…

  Source: Science (New York, N.Y.). 2009 Aug 28

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• Lack of Bcl-2 expression in follicular lymphoma may be caused by mutations in the BCL2 gene or by absence of the t(14;18) translocation.

  Follicular lymphoma (FL), except grade 3B, is characterized by the chromosomal translocation t(14;18)(q32;q21), which results in over-expression of th…

  Authors: Margit Schraders, Daphne de Jong, Philip Kluin, Patricia Groenen, Han van Krieken

  Source: The Journal of pathology. 2005 Feb

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