Literature DB >> 15603451

Detecting copy number changes in genomic DNA: MAPH and MLPA.

Stefan J White1, Martijn H Breuning, Johan T den Dunnen.   

Abstract

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Year:  2004        PMID： 15603451     DOI： 10.1016/s0091-679x(04)75032-3

Source DB:  PubMed          Journal:  Methods Cell Biol        ISSN： 0091-679X            Impact factor:   1.441


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  15 in total

1.  A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development.

Authors:  Stefan White; Jacqueline Hewitt; Erin Turbitt; Yvonne van der Zwan; Remko Hersmus; Stenvert Drop; Peter Koopman; Vincent Harley; Martine Cools; Leendert Looijenga; Andrew Sinclair
Journal:  Eur J Hum Genet       Date:  2011-11-09       Impact factor: 4.246

2.  Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome.

Authors:  Sandie Le Guédard; Valérie Faugère; Sue Malcolm; Mireille Claustres; Anne-Françoise Roux
Journal:  Mol Vis       Date:  2007-01-26       Impact factor: 2.367

3.  Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.

Authors:  Lori S Sullivan; Sara J Bowne; C Robyn Seaman; Susan H Blanton; Richard A Lewis; John R Heckenlively; David G Birch; Dianna Hughbanks-Wheaton; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2006-10       Impact factor: 4.799

4.  Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.

Authors:  Stefan White; Thomas Ohnesorg; Amanda Notini; Kelly Roeszler; Jacqueline Hewitt; Hinda Daggag; Craig Smith; Erin Turbitt; Sonja Gustin; Jocelyn van den Bergen; Denise Miles; Patrick Western; Valerie Arboleda; Valerie Schumacher; Lavinia Gordon; Katrina Bell; Henrik Bengtsson; Terry Speed; John Hutson; Garry Warne; Vincent Harley; Peter Koopman; Eric Vilain; Andrew Sinclair
Journal:  PLoS One       Date:  2011-03-07       Impact factor: 3.240

5.  Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration.

Authors:  Stuart Cantsilieris; Stefan J White; Andrea J Richardson; Robyn H Guymer; Paul N Baird
Journal:  PLoS One       Date:  2012-04-25       Impact factor: 3.240

6.  Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome arms.

Authors:  Jeroen Knijnenburg; Marja van der Burg; Philomeen Nilsson; Hans Kristian Ploos van Amstel; Hans Tanke; Károly Szuhai
Journal:  Nucleic Acids Res       Date:  2005-10-12       Impact factor: 16.971

7.  Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach.

Authors:  Thomas Ohnesorg; Stefanie Eggers; Wouter N Leonhard; Andrew H Sinclair; Stefan J White
Journal:  BMC Genomics       Date:  2009-09-04       Impact factor: 3.969

8.  Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD.

Authors:  Yvonne D Krom; Peter E Thijssen; Janet M Young; Bianca den Hamer; Judit Balog; Zizhen Yao; Lisa Maves; Lauren Snider; Paul Knopp; Peter S Zammit; Tonnie Rijkers; Baziel G M van Engelen; George W Padberg; Rune R Frants; Rabi Tawil; Stephen J Tapscott; Silvère M van der Maarel
Journal:  PLoS Genet       Date:  2013-04-04       Impact factor: 5.917

9.  Current Challenges for HER2 Testing in Diagnostic Pathology: State of the Art and Controversial Issues.

Authors:  Anna Sapino; Margherita Goia; Daniele Recupero; Caterina Marchiò
Journal:  Front Oncol       Date:  2013-05-21       Impact factor: 6.244

10.  Screening of subtelomeric rearrangements in 100 Korean Pediatric patients with unexplained mental retardation and anomalies using subtelomeric FISH (fluorescence in situ hybridization).

Authors:  Hyun-Kyung Park; Hee-Jin Kim; Hyun-Jun Kim; Sung-Hee Han; Young-Jae Kim; Sun-Hee Kim
Journal:  J Korean Med Sci       Date:  2008-08       Impact factor: 2.153
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