Literature DB >> 15558722

Insights from genomic microarrays into structural chromosome rearrangements.

Jeroen Knijnenburg1, Károly Szuhai, Jacques Giltay, Lia Molenaar, Willem Sloos, Martin Poot, Hans J Tanke, Carla Rosenberg.   

Abstract

Array-based comparative genomic hybridization allows high-resolution screening of copy number abnormalities in the genome, and becomes an increasingly important tool to detect deletions and duplications in tumor and post-natal cytogenetics. Here we illustrate that genomic arrays can also provide novel clues regarding the structural basis of chromosome rearrangement, including instability and mechanisms of formation of ring chromosomes. We also showed that array results might impact the recurrence risks for relatives of affected individuals. Our data indicate that chromosome rearrangements frequently involve more breaks than current cytogenetic models assume. (c) 2004 Wiley-Liss, Inc.

Entities:  

Mesh:

Year:  2005        PMID: 15558722     DOI: 10.1002/ajmg.a.30378

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  14 in total

1.  Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.

Authors:  S Goobie; J Knijnenburg; D Fitzpatrick; F H Sharkey; A C Lionel; C R Marshall; T Azam; M Shago; K Chong; R Mendoza-Londono; N S den Hollander; C Ruivenkamp; E Maher; H J Tanke; K Szuhai; R F Wintle; S W Scherer
Journal:  Cytogenet Genome Res       Date:  2009-03-11       Impact factor: 1.636

2.  Array CGH detection of a cryptic deletion in a complex chromosome rearrangement.

Authors:  Carla Rosenberg; Jeroen Knijnenburg; Maria de Lourdes Chauffaille; Decio Brunoni; Ana Lucia Catelani; Willem Sloos; Károly Szuhai; Hans J Tanke
Journal:  Hum Genet       Date:  2005-02-22       Impact factor: 4.132

3.  Tumour-specific methylation of PTPRG intron 1 locus in sporadic and Lynch syndrome colorectal cancer.

Authors:  Eddy H J van Roon; Noël F C C de Miranda; Merlijn P van Nieuwenhuizen; Emile J de Meijer; Marjo van Puijenbroek; Pearlly S Yan; Tim H-M Huang; Tom van Wezel; Hans Morreau; Judith M Boer
Journal:  Eur J Hum Genet       Date:  2010-12-08       Impact factor: 4.246

4.  Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase.

Authors:  Saskia A J Lesnik Oberstein; Marjolein Kriek; Stefan J White; Margot E Kalf; Karoly Szuhai; Johan T den Dunnen; Martijn H Breuning; Raoul C M Hennekam
Journal:  Am J Hum Genet       Date:  2006-07-19       Impact factor: 11.025

5.  High-resolution copy number analysis of paraffin-embedded archival tissue using SNP BeadArrays.

Authors:  Jan Oosting; Esther H Lips; Ronald van Eijk; Paul H C Eilers; Károly Szuhai; Cisca Wijmenga; Hans Morreau; Tom van Wezel
Journal:  Genome Res       Date:  2007-01-31       Impact factor: 9.043

6.  A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.

Authors:  Marjolein Kriek; Karoly Szuhai; Sarina G Kant; Stefan J White; Hans Dauwerse; Heike Fiegler; Nigel P Carter; Jeroen Knijnenburg; Johan T den Dunnen; Hans J Tanke; Martijn H Breuning; Carla Rosenberg
Journal:  Hum Genet       Date:  2006-05-18       Impact factor: 4.132

7.  Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents.

Authors:  C Rosenberg; J Knijnenburg; E Bakker; A M Vianna-Morgante; W Sloos; P A Otto; M Kriek; K Hansson; A C V Krepischi-Santos; H Fiegler; N P Carter; E K Bijlsma; A van Haeringen; K Szuhai; H J Tanke
Journal:  J Med Genet       Date:  2005-06-24       Impact factor: 6.318

8.  Genomic profiling by DNA amplification of laser capture microdissected tissues and array CGH.

Authors:  Joana Cardoso; Lia Molenaar; Renée X de Menezes; Carla Rosenberg; Hans Morreau; Gabriela Möslein; Riccardo Fodde; Judith M Boer
Journal:  Nucleic Acids Res       Date:  2004-10-28       Impact factor: 16.971

9.  Genomic analysis of a case of multifocal adenocarcinoma in ulcerative colitis.

Authors:  Herman van Dekken; Josiane C Wink; Kees J Vissers; Ronald van Marion; Patrick F Franken; Monique M C P Hoogmans; Winand N M Dinjens; W Ruud Schouten; Ernst J Kuipers; C Janneke van der Woude
Journal:  Virchows Arch       Date:  2006-11-08       Impact factor: 4.064

10.  Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells.

Authors:  Anton K Raap; Roshan S Jahangir Tafrechi; Frans M van de Rijke; Angela Pyle; Carolina Wählby; Karoly Szuhai; Raimond B G Ravelli; René F M de Coo; Harsha K Rajasimha; Mats Nilsson; Patrick F Chinnery; David C Samuels; George M C Janssen
Journal:  PLoS One       Date:  2012-12-18       Impact factor: 3.240

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.