Literature DB >> 11292323

Rapid detection of the 22q11.2 deletion with quantitative real-time PCR.

H Kariyazono1, T Ohno, K Ihara, H Igarashi, K Joh-o, S Ishikawa, T Hara.   

Abstract

We report the detection of 22q11.2 deletions using TaqMan(TM)PCR-based gene dosage analysis of patients previously diagnosed by fluorescent in situ hybridization (FISH). We performed quantitative PCR of the UFD1L gene from this region and showed a 99.7% statistical correlation between the two methods. The advantages of this method over FISH include: (i) rapidity; (ii) ease; (iii) relatively low cost and; (iv) the small quantities of DNA needed. Copyright 2001 Academic Press.

Entities:  

Mesh：

Substances：

Year:  2001        PMID： 11292323     DOI： 10.1006/mcpr.2000.0340

Source DB:  PubMed          Journal:  Mol Cell Probes        ISSN： 0890-8508            Impact factor:   2.365


  11 in total

1.  Expression profiling of the whole Arabidopsis shaggy-like kinase multigene family by real-time reverse transcriptase-polymerase chain reaction.

Authors:  Bénédicte Charrier; Anthony Champion; Yves Henry; Martin Kreis
Journal:  Plant Physiol       Date:  2002-10       Impact factor: 8.340

2.  Adult onset hypoparathyroidism in a patient with psychiatric illness: a 71 years delayed diagnosis of DiGeorge syndrome.

Authors:  E Passeri; M Frigerio; R Valaperta; E Costa; B Ambrosi; S Corbetta
Journal:  J Endocrinol Invest       Date:  2010-12       Impact factor: 4.256

3.  Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.

Authors:  K Osoegawa; G M Vessere; K H Utami; M A Mansilla; M K Johnson; B M Riley; J L'Heureux; R Pfundt; J Staaf; W A van der Vliet; A C Lidral; E F P M Schoenmakers; A Borg; B C Schutte; E J Lammer; J C Murray; P J de Jong
Journal:  J Med Genet       Date:  2007-09-14       Impact factor: 6.318

4.  Maturational alterations of peripheral T cell subsets and cytokine gene expression in 22q11.2 deletion syndrome.

Authors:  Y Kanaya; S Ohga; K Ikeda; K Furuno; T Ohno; H Takada; N Kinukawa; T Hara
Journal:  Clin Exp Immunol       Date:  2006-04       Impact factor: 4.330

5.  Chromosomal abnormalities among children born with conotruncal cardiac defects.

Authors:  Edward J Lammer; Jacqueline S Chak; David M Iovannisci; Kathleen Schultz; Kazutoyo Osoegawa; Wei Yang; Suzan L Carmichael; Gary M Shaw
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2009-01

6.  Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease.

Authors:  Janaína Huber; Vivian Catarino Peres; Alexandre Luz de Castro; Tiago Jeronimo dos Santos; Lauro da Fontoura Beltrão; Angélica Cerveira de Baumont; Silvia Liliana Cossio; Tiago Pires Dalberto; Mariluce Riegel; Andrés Delgado Cañedo; Beatriz D'Agord Schaan; Lucia Campos Pellanda
Journal:  Pediatr Cardiol       Date:  2014-06-01       Impact factor: 1.655

7.  A pyrosequencing-based assay for the rapid detection of the 22q11.2 deletion in DNA from buccal and dried blood spot samples.

Authors:  Deborah Koontz; Kirsten Baecher; Lisa Kobrynski; Stanimila Nikolova; Margaret Gallagher
Journal:  J Mol Diagn       Date:  2014-06-26       Impact factor: 5.568

8.  SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case.

Authors:  Marcello Frigerio; Elena Passeri; Tiziana de Filippis; Daniela Rusconi; Rea Valaperta; Mario Carminati; Anita Donnangelo; Elena Costa; Luca Persani; Palma Finelli; Sabrina Corbetta
Journal:  BMC Med Genet       Date:  2011-05-05       Impact factor: 2.103

9.  Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.

Authors:  Alexandre R Vieira; Joseph R Avila; Sandra Daack-Hirsch; Ecaterina Dragan; Têmis M Félix; Fedik Rahimov; Jill Harrington; Rebecca R Schultz; Yoriko Watanabe; Marla Johnson; Jennifer Fang; Sarah E O'Brien; Iêda M Orioli; Eduardo E Castilla; David R Fitzpatrick; Rulang Jiang; Mary L Marazita; Jeffrey C Murray
Journal:  PLoS Genet       Date:  2005-12-02       Impact factor: 5.917

10.  A method for accurate detection of genomic microdeletions using real-time quantitative PCR.

Authors:  Rosanna Weksberg; Simon Hughes; Laura Moldovan; Anne S Bassett; Eva W C Chow; Jeremy A Squire
Journal:  BMC Genomics       Date:  2005-12-13       Impact factor: 3.969
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.