Literature DB >> 22468123

Use of array genomic hybridization technology for constitutional genetic diagnosis in Canada.

Alessandra Mv Duncan1, Bernard Chodirker.   

Abstract

Year:  2011        PMID： 22468123      PMCID： PMC3076171          DOI： 10.1093/pch/16.4.211

Source DB:  PubMed          Journal:  Paediatr Child Health        ISSN： 1205-7088            Impact factor:   2.253


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  15 in total

1.  Detection of large-scale variation in the human genome.

Authors:  A John Iafrate; Lars Feuk; Miguel N Rivera; Marc L Listewnik; Patricia K Donahoe; Ying Qi; Stephen W Scherer; Charles Lee
Journal:  Nat Genet       Date:  2004-08-01       Impact factor: 38.330

Review 2.  Guidelines for molecular karyotyping in constitutional genetic diagnosis.

Authors:  Joris Robert Vermeesch; Heike Fiegler; Nicole de Leeuw; Karoly Szuhai; Jacqueline Schoumans; Roberto Ciccone; Frank Speleman; Anita Rauch; Jill Clayton-Smith; Conny Van Ravenswaaij; Damien Sanlaville; Philippos C Patsalis; Helen Firth; Koen Devriendt; Orsetta Zuffardi
Journal:  Eur J Hum Genet       Date:  2007-07-18       Impact factor: 4.246

3.  The fine-scale and complex architecture of human copy-number variation.

Authors:  George H Perry; Amir Ben-Dor; Anya Tsalenko; Nick Sampas; Laia Rodriguez-Revenga; Charles W Tran; Alicia Scheffer; Israel Steinfeld; Peter Tsang; N Alice Yamada; Han Soo Park; Jong-Il Kim; Jeong-Sun Seo; Zohar Yakhini; Stephen Laderman; Laurakay Bruhn; Charles Lee
Journal:  Am J Hum Genet       Date:  2008-01-24       Impact factor: 11.025

Review 4.  Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation.

Authors:  Pawel Stankiewicz; Arthur L Beaudet
Journal:  Curr Opin Genet Dev       Date:  2007-04-30       Impact factor: 5.578

5.  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

6.  Global variation in copy number in the human genome.

Authors:  Richard Redon; Shumpei Ishikawa; Karen R Fitch; Lars Feuk; George H Perry; T Daniel Andrews; Heike Fiegler; Michael H Shapero; Andrew R Carson; Wenwei Chen; Eun Kyung Cho; Stephanie Dallaire; Jennifer L Freeman; Juan R González; Mònica Gratacòs; Jing Huang; Dimitrios Kalaitzopoulos; Daisuke Komura; Jeffrey R MacDonald; Christian R Marshall; Rui Mei; Lyndal Montgomery; Kunihiro Nishimura; Kohji Okamura; Fan Shen; Martin J Somerville; Joelle Tchinda; Armand Valsesia; Cara Woodwark; Fengtang Yang; Junjun Zhang; Tatiana Zerjal; Jane Zhang; Lluis Armengol; Donald F Conrad; Xavier Estivill; Chris Tyler-Smith; Nigel P Carter; Hiroyuki Aburatani; Charles Lee; Keith W Jones; Stephen W Scherer; Matthew E Hurles
Journal:  Nature       Date:  2006-11-23       Impact factor: 49.962

7.  Large-scale copy number polymorphism in the human genome.

Authors:  Jonathan Sebat; B Lakshmi; Jennifer Troge; Joan Alexander; Janet Young; Pär Lundin; Susanne Månér; Hillary Massa; Megan Walker; Maoyen Chi; Nicholas Navin; Robert Lucito; John Healy; James Hicks; Kenny Ye; Andrew Reiner; T Conrad Gilliam; Barbara Trask; Nick Patterson; Anders Zetterberg; Michael Wigler
Journal:  Science       Date:  2004-07-23       Impact factor: 47.728

8.  Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.

Authors:  B Menten; N Maas; B Thienpont; K Buysse; J Vandesompele; C Melotte; T de Ravel; S Van Vooren; I Balikova; L Backx; S Janssens; A De Paepe; B De Moor; Y Moreau; P Marynen; J-P Fryns; G Mortier; K Devriendt; F Speleman; J R Vermeesch
Journal:  J Med Genet       Date:  2006-02-20       Impact factor: 6.318

9.  Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.

Authors:  C Shaw-Smith; R Redon; L Rickman; M Rio; L Willatt; H Fiegler; H Firth; D Sanlaville; R Winter; L Colleaux; M Bobrow; N P Carter
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318

10.  Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray.

Authors:  Erin L Baldwin; Ji-Yun Lee; Douglas M Blake; Brian P Bunke; Chad R Alexander; Amy L Kogan; David H Ledbetter; Christa L Martin
Journal:  Genet Med       Date:  2008-06       Impact factor: 8.822
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  2 in total

Review 1.  Autism spectrum disorder: advances in evidence-based practice.

Authors:  Evdokia Anagnostou; Lonnie Zwaigenbaum; Peter Szatmari; Eric Fombonne; Bridget A Fernandez; Marc Woodbury-Smith; Jessica Brian; Susan Bryson; Isabel M Smith; Irene Drmic; Janet A Buchanan; Wendy Roberts; Stephen W Scherer
Journal:  CMAJ       Date:  2014-01-13       Impact factor: 8.262

2.  Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.

Authors:  Mohammed Uddin; Giovanna Pellecchia; Bhooma Thiruvahindrapuram; Lia D'Abate; Daniele Merico; Ada Chan; Mehdi Zarrei; Kristiina Tammimies; Susan Walker; Matthew J Gazzellone; Thomas Nalpathamkalam; Ryan K C Yuen; Koenraad Devriendt; Géraldine Mathonnet; Emmanuelle Lemyre; Sonia Nizard; Mary Shago; Ann M Joseph-George; Abdul Noor; Melissa T Carter; Grace Yoon; Peter Kannu; Frédérique Tihy; Erik C Thorland; Christian R Marshall; Janet A Buchanan; Marsha Speevak; Dimitri J Stavropoulos; Stephen W Scherer
Journal:  Sci Rep       Date:  2016-07-01       Impact factor: 4.379
  2 in total

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