Literature DB >> 20974797

Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases.

Silvia Galbiati, Angela Brisci, Faustina Lalatta, Manuela Seia, G Mike Makrigiorgos, Maurizio Ferrari, Laura Cremonesi.   

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Year:  2010        PMID： 20974797      PMCID： PMC3040649          DOI： 10.1373/clinchem.2010.155671

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  4 in total

1.  The quest for accurate measurement of fetal DNA in maternal plasma.

Authors:  Y M Dennis Lo
Journal:  Clin Chem       Date:  2010-09-13       Impact factor: 8.327

2.  Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia.

Authors:  Silvia Galbiati; Barbara Foglieni; Maurizio Travi; Cristina Curcio; Gabriella Restagno; Luca Sbaiz; Maddalena Smid; Federica Pasi; Augusto Ferrari; Maurizio Ferrari; Laura Cremonesi
Journal:  Haematologica       Date:  2008-03-06       Impact factor: 9.941

3.  Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing.

Authors:  Jin Li; Lilin Wang; Harvey Mamon; Matthew H Kulke; Ross Berbeco; G Mike Makrigiorgos
Journal:  Nat Med       Date:  2008-04-13       Impact factor: 53.440

4.  Fetal DNA detection in maternal plasma throughout gestation.

Authors:  Silvia Galbiati; Maddalena Smid; Dania Gambini; Augusto Ferrari; Gabriella Restagno; Elsa Viora; Mario Campogrande; Simona Bastonero; Marco Pagliano; Stefano Calza; Maurizio Ferrari; Laura Cremonesi
Journal:  Hum Genet       Date:  2005-05-20       Impact factor: 4.132
  4 in total
  20 in total

1.  COLD-HRM PCR versus conventional HRM PCR to detect the BRAF V600E mutation A real improvement?

Authors:  Elke Stadelmeyer; Ellen Heitzer; Peter Wolf; Nadia Dandachi
Journal:  J Mol Diagn       Date:  2011-03       Impact factor: 5.568

2.  Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.

Authors:  Thessalia Papasavva; Wilfred F J van Ijcken; Christel E M Kockx; Mirjam C G N van den Hout; Petros Kountouris; Loukas Kythreotis; Eleni Kalogirou; Frank G Grosveld; Marina Kleanthous
Journal:  Eur J Hum Genet       Date:  2013-04-10       Impact factor: 4.246

3.  Nuclease-Assisted Minor Allele Enrichment Using Overlapping Probes-Assisted Amplification-Refractory Mutation System: An Approach for the Improvement of Amplification-Refractory Mutation System-Polymerase Chain Reaction Specificity in Liquid Biopsies.

Authors:  Athina Markou; Elena Tzanikou; Ioannis Ladas; G Mike Makrigiorgos; Evi Lianidou
Journal:  Anal Chem       Date:  2019-10-03       Impact factor: 6.986

4.  A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood.

Authors:  Wenjuan Wang; Yuan Yuan; Haiqing Zheng; Yaoshen Wang; Dan Zeng; Yihua Yang; Xin Yi; Yang Xia; Chunjiang Zhu
Journal:  Genet Test Mol Biomarkers       Date:  2017-05-24

Review 5.  COLD-PCR Technologies in the Area of Personalized Medicine: Methodology and Applications.

Authors:  Florence Mauger; Alexandre How-Kit; Jörg Tost
Journal:  Mol Diagn Ther       Date:  2017-06       Impact factor: 4.074

6.  Enhanced ratio of signals enables digital mutation scanning for rare allele detection.

Authors:  Elena Castellanos-Rizaldos; Cloud Paweletz; Chen Song; Geoffrey R Oxnard; Harvey Mamon; Pasi A Jänne; G Mike Makrigiorgos
Journal:  J Mol Diagn       Date:  2015-03-13       Impact factor: 5.568

7.  Nuclease-Assisted, Multiplexed Minor-Allele Enrichment: Application in Liquid Biopsy of Cancer.

Authors:  Fangyan Yu; Ka Wai Leong; G Mike Makrigiorgos
Journal:  Methods Mol Biol       Date:  2022

8.  Multiplexed Elimination of Wild-Type DNA and High-Resolution Melting Prior to Targeted Resequencing of Liquid Biopsies.

Authors:  Ioannis Ladas; Mariana Fitarelli-Kiehl; Chen Song; Viktor A Adalsteinsson; Heather A Parsons; Nancy U Lin; Nikhil Wagle; G Mike Makrigiorgos
Journal:  Clin Chem       Date:  2017-07-05       Impact factor: 8.327

9.  Temperature-tolerant COLD-PCR reduces temperature stringency and enables robust mutation enrichment.

Authors:  E Castellanos-Rizaldos; Pingfang Liu; Coren A Milbury; Minakshi Guha; Angela Brisci; Laura Cremonesi; Maurizio Ferrari; Harvey Mamon; G Mike Makrigiorgos
Journal:  Clin Chem       Date:  2012-05-15       Impact factor: 8.327

10.  Non-invasive prenatal testing for single gene disorders: exploring the ethics.

Authors:  Zuzana Deans; Melissa Hill; Lyn S Chitty; Celine Lewis
Journal:  Eur J Hum Genet       Date:  2012-11-28       Impact factor: 4.246
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