Literature DB >> 15173227

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

J A Veltman, H G Yntema, D Lugtenberg, H Arts, S Briault, E H L P G Huys, K Osoegawa, P de Jong, H G Brunner, A Geurts van Kessel, H van Bokhoven, E F P M Schoenmakers.   

Abstract

Mesh：

Year:  2004        PMID： 15173227      PMCID： PMC1735810          DOI： 10.1136/jmg.2004.018531

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  13 in total

1.  X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Authors:  R S Møller; L R Jensen; S M Maas; J Filmus; M Capurro; C Hansen; C L M Marcelis; K Ravn; J Andrieux; M Mathieu; M Kirchhoff; O K Rødningen; N de Leeuw; H G Yntema; G Froyen; J Vandewalle; K Ballon; E Klopocki; S Joss; J Tolmie; A C Knegt; A M Lund; H Hjalgrim; A W Kuss; N Tommerup; R Ullmann; A P M de Brouwer; P Strømme; S Kjaergaard; Z Tümer; T Kleefstra
Journal:  Hum Genet       Date:  2013-12-11       Impact factor: 4.132

2.  Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

Authors:  Hilde Van Esch; Marijke Bauters; Jaakko Ignatius; Mieke Jansen; Martine Raynaud; Karen Hollanders; Dorien Lugtenberg; Thierry Bienvenu; Lars Riff Jensen; Jozef Gecz; Claude Moraine; Peter Marynen; Jean-Pierre Fryns; Guy Froyen
Journal:  Am J Hum Genet       Date:  2005-07-29       Impact factor: 11.025

Review 3.  Application of array-based comparative genomic hybridization to clinical diagnostics.

Authors:  Bassem A Bejjani; Lisa G Shaffer
Journal:  J Mol Diagn       Date:  2006-11       Impact factor: 5.568

4.  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

5.  Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

Authors:  D Lugtenberg; A P M de Brouwer; T Kleefstra; A R Oudakker; S G M Frints; C T R M Schrander-Stumpel; J P Fryns; L R Jensen; J Chelly; C Moraine; G Turner; J A Veltman; B C J Hamel; B B A de Vries; H van Bokhoven; H G Yntema
Journal:  J Med Genet       Date:  2005-09-16       Impact factor: 6.318

6.  ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.

Authors:  Dorien Lugtenberg; Helger G Yntema; Martijn J G Banning; Astrid R Oudakker; Helen V Firth; Lionel Willatt; Martine Raynaud; Tjitske Kleefstra; Jean-Pierre Fryns; Hans-Hilger Ropers; Jamel Chelly; Claude Moraine; Jozef Gecz; Jeroen van Reeuwijk; Sander B Nabuurs; Bert B A de Vries; Ben C J Hamel; Arjan P M de Brouwer; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2005-12-29       Impact factor: 11.025

7.  Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.

Authors:  Guy Froyen; Marijke Bauters; Jackie Boyle; Hilde Van Esch; Karen Govaerts; Hans van Bokhoven; Hans-Hilger Ropers; Claude Moraine; Jamel Chelly; Jean-Pierre Fryns; Peter Marynen; Jozef Gecz; Gillian Turner
Journal:  Hum Genet       Date:  2007-02-28       Impact factor: 4.132

8.  A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.

Authors:  Stavros Bashiardes; Ludmila Kousoulidou; Hans van Bokhoven; Hans-Hilger Ropers; Jamel Chelly; Claude Moraine; Arjan P M de Brouwer; Hilde Van Esch; Guy Froyen; Philippos C Patsalis
Journal:  J Mol Diagn       Date:  2009-09-24       Impact factor: 5.568

9.  Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

Authors:  Claudia M B Carvalho; Feng Zhang; Pengfei Liu; Ankita Patel; Trilochan Sahoo; Carlos A Bacino; Chad Shaw; Sandra Peacock; Amber Pursley; Y Jane Tavyev; Melissa B Ramocki; Magdalena Nawara; Ewa Obersztyn; Angela M Vianna-Morgante; Pawel Stankiewicz; Huda Y Zoghbi; Sau Wai Cheung; James R Lupski
Journal:  Hum Mol Genet       Date:  2009-03-26       Impact factor: 6.150

10.  X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

Authors:  I Madrigal; L Rodríguez-Revenga; L Armengol; E González; B Rodriguez; C Badenas; A Sánchez; F Martínez; M Guitart; I Fernández; J A Arranz; Mi Tejada; L A Pérez-Jurado; X Estivill; M Milà
Journal:  BMC Genomics       Date:  2007-11-29       Impact factor: 3.969
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