Literature DB >> 25189247

A novel de novo 2.5 Mb microdeletion of 7q22.1 harbours candidate gene for neurobehavioural disorders and mental retardation.

Vaidas Dirse1, Birute Burnyte, Egle Gineikiene, Laimonas Griskevicius, Algirdas Utkus.   

Abstract

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Year:  2014        PMID： 25189247     DOI： 10.1007/s12041-014-0369-9

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  7 in total

1.  Quantification of MYCN, DDX1, and NAG gene copy number in neuroblastoma using a real-time quantitative PCR assay.

Authors:  Katleen De Preter; Frank Speleman; Valérie Combaret; John Lunec; Geneviève Laureys; Bert H J Eussen; Nadine Francotte; Julian Board; Andy D J Pearson; Anne De Paepe; Nadine Van Roy; Jo Vandesompele
Journal:  Mod Pathol       Date:  2002-02       Impact factor: 7.842

2.  A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization.

Authors:  Zuhair N Al-Hassnan; Albandary Al-Bakheet; Nada Abu-Dheim; Banan Al-Younes; Dilek Colak; Namik Kaya
Journal:  Am J Med Genet A       Date:  2011-10-14       Impact factor: 2.802

3.  Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development.

Authors:  Helle Lybaek; Leonardo A Meza-Zepeda; Stine H Kresse; Trude Høysaeter; Vidar M Steen; Gunnar Houge
Journal:  Eur J Hum Genet       Date:  2008-05-07       Impact factor: 4.246

4.  Rapid detection of VHL exon deletions using real-time quantitative PCR.

Authors:  Jasmien Hoebeeck; Rob van der Luijt; Bruce Poppe; Els De Smet; Nurten Yigit; Kathleen Claes; Richard Zewald; Gert-Jan de Jong; Anne De Paepe; Frank Speleman; Jo Vandesompele
Journal:  Lab Invest       Date:  2005-01       Impact factor: 5.662

Review 5.  Neuropeptides in depression: role of VGF.

Authors:  Smita Thakker-Varia; Janet Alder
Journal:  Behav Brain Res       Date:  2008-10-15       Impact factor: 3.332

6.  Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints.

Authors:  Stefan Vermeulen; Björn Menten; Nadine Van Roy; Heidi Van Limbergen; Anne De Paepe; Geert Mortier; Frank Speleman
Journal:  Am J Med Genet A       Date:  2004-01-01       Impact factor: 2.802

7.  QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.

Authors:  Stefano Colella; Christopher Yau; Jennifer M Taylor; Ghazala Mirza; Helen Butler; Penny Clouston; Anne S Bassett; Anneke Seller; Christopher C Holmes; Jiannis Ragoussis
Journal:  Nucleic Acids Res       Date:  2007-03-06       Impact factor: 16.971
  7 in total

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