1 to 10 of 17 literature results

• Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.

  We investigated the involvement of rare (<1%) copy number variants (CNVs) in 471 cases of schizophrenia and 2792 controls that had been genotyped usin…

  Authors: George Kirov, Detelina Grozeva, Nadine Norton, Dobril Ivanov, Kiran K Mantripragada, Peter Holmans, International Schizophrenia Consortium, Wellcome Trust Case Control Consortium, Nick Craddock, Michael J Owen,…

  Source: Human molecular genetics. 2009 Apr 15

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• Analysis of copy number variation in the normal human population within a region containing complex segmental duplications on 22q11 using high-resolution array-CGH.

  A previously detected copy number polymorphism (Ep CNP) in patients affected with neuroectodermal tumors led us to investigate its frequency and lengt…

  Authors: Cecilia de Bustos, Teresita Díaz de Ståhl, Arkadiusz Piotrowski, Kiran K Mantripragada, Patrick G Buckley, Eva Darai, Caisa M Hansson, Gintautas Grigelionis, Uwe Menzel, Jan P Dumanski

  Source: Genomics. 2006 Aug

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• Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.

  Schwannomatosis is characterized by multiple peripheral and cranial nerve schwannomas that occur in the absence of bilateral 8th cranial nerve schwann…

  Authors: Patrick G Buckley, Kiran K Mantripragada, Teresita Díaz de Ståhl, Arkadiusz Piotrowski, Caisa M Hansson, Hajnalka Kiss, David Vetrie, Ingemar T Ernberg, Magnus Nordenskjöld, Lars Bolund,…

  Source: Human mutation. 2005 Dec

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• High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas.

  Schwannomas may develop sporadically or in association with NF2 and schwannomatosis. The fundamental aberration in schwannomas is the bi-allelic inact…

  Authors: Teresita Díaz de Ståhl, Caisa M Hansson, Cecilia de Bustos, Kiran K Mantripragada, Arkadiusz Piotrowski, Magdalena Benetkiewicz, Caroline Jarbo, Leif Wiklund, Tiit Mathiesen, Gunnar Nyberg,…

  Source: Human genetics. 2005 Oct

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• A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.

  We have constructed the first comprehensive microarray representing a human chromosome for analysis of DNA copy number variation. This chromosome 22 a…

  Authors: Patrick G Buckley, Kiran K Mantripragada, Magdalena Benetkiewicz, Isabel Tapia-Páez, Teresita Diaz De Ståhl, Magnus Rosenquist, Haider Ali, Caroline Jarbo, Cecilía De Bustos, Carina Hirvelä,…

  Source: Human molecular genetics. 2002 Dec 1

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• Telomerase activity is a biomarker for high grade malignant peripheral nerve sheath tumors in neurofibromatosis type 1 individuals.

  Telomerase activity (TA) and the expression of its enzymatic subunits, which have been demonstrated in many tumors, remain poorly investigated in tumo…

  Authors: Kiran K Mantripragada, Matthew Caley, Phil Stephens, Christopher J Jones, Lan Kluwe, Abhijit Guha, Victor Mautner, Meena Upadhyaya

  Source: Genes, chromosomes & cancer. 2008 Mar

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• High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH.

  Previous low-resolution schwannoma studies have reported diverse frequencies (30-80%) of 22q deletions, involving the neurofibromatosis-2 tumor suppre…

  Authors: Kiran K Mantripragada, Patrick G Buckley, Magdalena Benetkiewicz, Cecilia De Bustos, Carina Hirvelä, Caroline Jarbo, Carl E G Bruder, Helena Wensman, Tiit Mathiesen, Gunnar Nyberg,…

  Source: International journal of oncology. 2003 Mar

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• Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array.

  Neurofibromatosis Type I (NF1) is an autosomal dominant disorder characterized by the development of both benign and malignant tumors. The lifetime ri…

  Authors: Kiran K Mantripragada, Teresita Díaz de Ståhl, Chris Patridge, Uwe Menzel, Robin Andersson, Nadia Chuzhanova, Lan Kluwe, Abhijit Guha, Victor Mautner, Jan P Dumanski,…

  Source: Genes, chromosomes & cancer. 2009 Oct

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• High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

  PURPOSE: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition that predisposes to benign and malignant tumors. The lifetime risk of a mal…

  Authors: Kiran K Mantripragada, Gillian Spurlock, Lan Kluwe, Nadia Chuzhanova, Rosalie E Ferner, Ian M Frayling, Jan P Dumanski, Abhijit Guha, Victor Mautner, Meena Upadhyaya

  Source: Clinical cancer research : an official journal of the American Association for Cancer Research. 2008 Feb 15

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• Copy-number polymorphisms: mining the tip of an iceberg.

  Copy-number polymorphisms (CNPs) represent a greatly underestimated aspect of human genetic variation. Recently, two landmark studies reported genome-…

  Authors: Patrick G Buckley, Kiran K Mantripragada, Arkadiusz Piotrowski, Teresita Diaz de Ståhl, Jan P Dumanski

  Source: Trends in genetics : TIG. 2005 Jun

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