Literature DB >> 17372759

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

Thomy J L de Ravel1, Koen Devriendt, Jean-Pierre Fryns, Joris R Vermeesch.   

Abstract

Molecular karyotyping by array comparative genomic hybridisation (array CGH) has doubled the detection rate of pathogenic chromosomal imbalances in patients. This has been possible by increasing the resolution level from the 5 Mb obtained using the conventional karyotype to as low as 100 kb by array technology. Moreover, the technology revealed that over 12% of the human genome includes sub-microscopic benign copy number variable regions. These new findings have implications in genetic counselling and patient management.

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Year:  2007        PMID： 17372759     DOI： 10.1007/s00431-007-0463-6

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  28 in total

1.  [Study of somatic chromosomes from 9 mongoloid children].

Authors:  J LEJEUNE; M GAUTIER; R TURPIN
Journal:  C R Hebd Seances Acad Sci       Date:  1959-03-16

2.  Prenatal detection of unbalanced chromosomal rearrangements by array CGH.

Authors:  L Rickman; H Fiegler; C Shaw-Smith; R Nash; V Cirigliano; G Voglino; B L Ng; C Scott; J Whittaker; M Adinolfi; N P Carter; M Bobrow
Journal:  J Med Genet       Date:  2005-09-30       Impact factor: 6.318

3.  Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances.

Authors:  S Solinas-Toldo; S Lampel; S Stilgenbauer; J Nickolenko; A Benner; H Döhner; T Cremer; P Lichter
Journal:  Genes Chromosomes Cancer       Date:  1997-12       Impact factor: 5.006

4.  Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

Authors:  J Schoumans; C Ruivenkamp; E Holmberg; M Kyllerman; B-M Anderlid; M Nordenskjöld
Journal:  J Med Genet       Date:  2005-09       Impact factor: 6.318

5.  Diagnostic genome profiling in mental retardation.

Authors:  Bert B A de Vries; Rolph Pfundt; Martijn Leisink; David A Koolen; Lisenka E L M Vissers; Irene M Janssen; Simon van Reijmersdal; Willy M Nillesen; Erik H L P G Huys; Nicole de Leeuw; Dominique Smeets; Erik A Sistermans; Ton Feuth; Conny M A van Ravenswaaij-Arts; Ad Geurts van Kessel; Eric F P M Schoenmakers; Han G Brunner; Joris A Veltman
Journal:  Am J Hum Genet       Date:  2005-08-30       Impact factor: 11.025

6.  The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

Authors:  G Van Buggenhout; C Van Ravenswaaij-Arts; N Mc Maas; R Thoelen; A Vogels; Dominique Smeets; I Salden; G Matthijs; J-P Fryns; J R Vermeesch
Journal:  Eur J Med Genet       Date:  2005 Jul-Sep       Impact factor: 2.708

7.  Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients.

Authors:  Bernard Thienpont; Luc Mertens; Thomy de Ravel; Benedicte Eyskens; Derize Boshoff; Nicole Maas; Jean-Pierre Fryns; Marc Gewillig; Joris R Vermeesch; Koen Devriendt
Journal:  Eur Heart J       Date:  2007-03-23       Impact factor: 29.983

8.  Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.

Authors:  J M Friedman; Agnes Baross; Allen D Delaney; Adrian Ally; Laura Arbour; Linlea Armstrong; Jennifer Asano; Dione K Bailey; Sarah Barber; Patricia Birch; Mabel Brown-John; Manqiu Cao; Susanna Chan; David L Charest; Noushin Farnoud; Nicole Fernandes; Stephane Flibotte; Anne Go; William T Gibson; Robert A Holt; Steven J M Jones; Giulia C Kennedy; Martin Krzywinski; Sylvie Langlois; Haiyan I Li; Barbara C McGillivray; Tarun Nayar; Trevor J Pugh; Evica Rajcan-Separovic; Jacqueline E Schein; Angelique Schnerch; Asim Siddiqui; Margot I Van Allen; Gary Wilson; Siu-Li Yong; Farah Zahir; Patrice Eydoux; Marco A Marra
Journal:  Am J Hum Genet       Date:  2006-07-25       Impact factor: 11.025

9.  High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays.

Authors:  D Pinkel; R Segraves; D Sudar; S Clark; I Poole; D Kowbel; C Collins; W L Kuo; C Chen; Y Zhai; S H Dairkee; B M Ljung; J W Gray; D G Albertson
Journal:  Nat Genet       Date:  1998-10       Impact factor: 38.330

10.  Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Authors:  Lisenka E L M Vissers; Bert B A de Vries; Kazutoyo Osoegawa; Irene M Janssen; Ton Feuth; Chik On Choy; Huub Straatman; Walter van der Vliet; Erik H L P G Huys; Anke van Rijk; Dominique Smeets; Conny M A van Ravenswaaij-Arts; Nine V Knoers; Ineke van der Burgt; Pieter J de Jong; Han G Brunner; Ad Geurts van Kessel; Eric F P M Schoenmakers; Joris A Veltman
Journal:  Am J Hum Genet       Date:  2003-11-18       Impact factor: 11.025
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  8 in total

1.  Twenty-four chromosome FISH in human IVF embryos reveals patterns of post-zygotic chromosome segregation and nuclear organisation.

Authors:  D Ioannou; K G L Fonseka; E J Meershoek; A R Thornhill; A Abogrein; M Ellis; D K Griffin
Journal:  Chromosome Res       Date:  2012-06-29       Impact factor: 5.239

Review 2.  Advances in prenatal screening: the ethical dimension.

Authors:  Antina de Jong; Wybo J Dondorp; Suzanna G M Frints; Christine E M de Die-Smulders; Guido M W R de Wert
Journal:  Nat Rev Genet       Date:  2011-08-18       Impact factor: 53.242

Review 3.  What's new in: "genetics in childhood epilepsy".

Authors:  Lieven Lagae
Journal:  Eur J Pediatr       Date:  2008-03-05       Impact factor: 3.183

Review 4.  A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing.

Authors:  Qian Wang; Qiongshi Lu; Hongyu Zhao
Journal:  Front Genet       Date:  2015-04-20       Impact factor: 4.599

Review 5.  SNP Array in Hematopoietic Neoplasms: A Review.

Authors:  Jinming Song; Haipeng Shao
Journal:  Microarrays (Basel)       Date:  2015-12-22

6.  Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.

Authors:  Piero Pavone; Martino Ruggieri; Ilaria Lombardo; Jyotsna Sudi; Roberta Biancheri; Danilo Castellano-Chiodo; Andrea Rossi; Gemma Incorpora; Norma J Nowak; Susan L Christian; Lorenzo Pavone; William B Dobyns
Journal:  Eur J Pediatr       Date:  2009-10-17       Impact factor: 3.183

7.  Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.

Authors:  Jm Friedman; Shelin Adam; Laura Arbour; Linlea Armstrong; Agnes Baross; Patricia Birch; Cornelius Boerkoel; Susanna Chan; David Chai; Allen D Delaney; Stephane Flibotte; William T Gibson; Sylvie Langlois; Emmanuelle Lemyre; H Irene Li; Patrick MacLeod; Joan Mathers; Jacques L Michaud; Barbara C McGillivray; Millan S Patel; Hong Qian; Guy A Rouleau; Margot I Van Allen; Siu-Li Yong; Farah R Zahir; Patrice Eydoux; Marco A Marra
Journal:  BMC Genomics       Date:  2009-11-16       Impact factor: 3.969

8.  Clinical impact of copy number variation changes in bladder cancer samples.

Authors:  Victoria Spasova; Boris Mladenov; Simeon Rangelov; Zora Hammoudeh; Desislava Nesheva; Dimitar Serbezov; Rada Staneva; Savina Hadjidekova; Mihail Ganev; Lubomir Balabanski; Radoslava Vazharova; Chavdar Slavov; Draga Toncheva; Olga Antonova
Journal:  Exp Ther Med       Date:  2021-06-24       Impact factor: 2.447
  8 in total

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