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Hemoglobin
international journal for hemoglobin research
Volume 31, 2007 - Issue 3
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Original

An Overview of Current Microarray-Based Human Globin Gene Mutation Detection Methods

Laura Cremonesi Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy
,
Maurizio Ferrari Genomic Unit for the Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy; Diagnostica e Ricerca San Raffaele SpA, Milan, Italy
,
Piero C. Giordano Leiden University Medical Center, Hemoglobinopathies Laboratory, Leiden, The Netherlands
,
Cornelis L. Harteveld Leiden University Medical Center, Hemoglobinopathies Laboratory, Leiden, The Netherlands
,
Marina Kleanthous Cyprus Institute of Neurology and Genetics, Molecular Genetics Unit, Nicosia, Cyprus
,
Thessalia Papasavva Cyprus Institute of Neurology and Genetics, Molecular Genetics Unit, Nicosia, Cyprus
,
George P. Patrinos Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC-Department of Cell Biology and Genetics, Rotterdam, The NetherlandsCorrespondence[email protected]
&
Joanne Traeger-Synodinos Medical Genetics, University of Athens School of Medicine, Athens, Greece
 show all
Pages 289-311 | Received 20 Feb 2007, Accepted 21 Feb 2007, Published online: 07 Jul 2009

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Manousos E. Kambouris. (2016) Population Screening for Hemoglobinopathy Profiling: Is the Development of a Microarray Worthwhile?. Hemoglobin 40:4, pages 240-246.
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Ho-Wan Ip & Chi-Chiu So. (2013) Diagnosis and prevention of thalassemia. Critical Reviews in Clinical Laboratory Sciences 50:6, pages 125-141.
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Joanne Traeger-Synodinos, Christina Vrettou & Emmanuel Kanavakis. (2011) Prenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies. Expert Review of Molecular Diagnostics 11:3, pages 299-312.
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John Old & Shirley Henderson. (2010) Molecular diagnostics for haemoglobinopathies. Expert Opinion on Medical Diagnostics 4:3, pages 225-240.
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Nitu Nigam, Prithvi Kumar Singh, Suhasini Bhatnagar, Sanjay Kumar Nigam & Anil Kumar Tripathi. 2022. Blood - Updates on Hemodynamics and Thalassemia. Blood - Updates on Hemodynamics and Thalassemia.
Aubrey Milunsky & Jeff M. MilunskyJohn M. Old & Jan Traeger‐Synodinos. 2021. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus 1002 1034 .
Aristea Velegraki. 2020. Microbiomics. Microbiomics 95 119 .
Jayant Dewangan, Prabhash Kumar Pandey, Aman Divakar, Sakshi Mishra, Sonal Srivastava & Srikanta Kumar Rath. 2018. Mutagenicity: Assays and Applications. Mutagenicity: Assays and Applications 49 67 .
Gülüzar Özbolat & Abdullah Tuli. (2017) Talasemi ve ilgili hemoglobinopatilerin Moleküler Tanı Yöntemleri: Günümüz ve GelecekMolecular Diagnostics Methods of Thalassemia and related hemoglobinopathies: Present and Future. Adıyaman Üniversitesi Sağlık Bilimleri Dergisi 3:3, pages 599-616.
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Javid Musayev, Yekbun Adlguzel, Haluk Kulah, Selim Eminoglu & Tayfun Akln. (2014) Label-Free DNA Detection Using a Charge Sensitive CMOS Microarray Sensor Chip. IEEE Sensors Journal 14:5, pages 1608-1616.
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C. L. Harteveld. (2014) State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies. International Journal of Laboratory Hematology 36:1, pages 1-12.
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Zheng Cao, Kevin Maupin, Bryan Curnutte, Brian Fallon, Christa L. Feasley, Elizabeth Brouhard, Richard Kwon, Christopher M. West, John Cunningham, Randall Brand, Paola Castelli, Stefano Crippa, Ziding Feng, Peter Allen, Diane M. Simeone & Brian B. Haab. (2013) Specific Glycoforms of MUC5AC and Endorepellin Accurately Distinguish Mucinous from Nonmucinous Pancreatic Cysts. Molecular & Cellular Proteomics 12:10, pages 2724-2734.
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John Old. 2013. Emery and Rimoin's Principles and Practice of Medical Genetics. Emery and Rimoin's Principles and Practice of Medical Genetics 1 44 .
Biljana Atanasovska, Georgi Bozhinovski, Dijana Plaseska-Karanfilska & Lyubomira Chakalova. (2012) Efficient Detection of Mediterranean β-Thalassemia Mutations by Multiplex Single-Nucleotide Primer Extension. PLoS ONE 7:10, pages e48167.
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Monica V. E. Gallivan & Piero C. Giordano. 2012. Laboratory Hematology Practice. Laboratory Hematology Practice 562 585 .
Heinz Troxler, Peter Kleinert, Markus Schmugge & Oliver Speer. 2012. 1 28 .
Josep L. Acero Sanchez, Olivier Y. F. Henry, Teresa Mairal, Nadja Laddach, Anders Nygren, Siegfried Hauch, Jasmin Fetisch & Ciara K. O’Sullivan. (2010) Colorimetric quantification of mRNA expression in rare tumour cells amplified by multiple ligation-dependent probe amplification. Analytical and Bioanalytical Chemistry 397:6, pages 2325-2334.
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Owen T. M. Chan, Kenneth D. Westover, Lisa Dietz, James L. Zehnder & Iris Schrijver. (2010) Comprehensive and Efficient HBB Mutation Analysis for Detection of β-Hemoglobinopathies in a Pan-Ethnic Population . American Journal of Clinical Pathology 133:5, pages 700-707.
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Christos Shammas, Thessalia Papasavva, Xenia Felekis, Christos Christophorou, Hanno Roomere, Jan Traeger Synodinos, Emmanuel Kanavakis, Mohammed El-Khateeb, Hanan Hamamy, Tamara Mahmoud, Mohammad Shboul, Amal El Beshlawy, Dvora Filon, Ibtessam R. Hussein, Renzo Galanello, Giovanni Romeo & Marina Kleanthous. (2010) ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia. Clinical Chemistry and Laboratory Medicine 48:12.
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George P. Patrinos & Wilhelm J. Ansorge. 2010. Molecular Diagnostics. Molecular Diagnostics 1 11 .
George P. Patrinos & Stylianos E. Antonarakis. 2010. Vogel and Motulsky's Human Genetics. Vogel and Motulsky's Human Genetics 365 401 .
Cornelis L. Harteveld, Marina Kleanthous & Joanne Traeger-Synodinos. (2009) Prenatal diagnosis of hemoglobin disorders: Present and future strategies. Clinical Biochemistry 42:18, pages 1767-1779.
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Jennifer Michlitsch, Mahin Azimi, Carolyn Hoppe, Mark C. Walters, Bertram Lubin, Fred Lorey & Elliott Vichinsky. (2009) Newborn screening for hemoglobinopathies in California. Pediatric Blood & Cancer 52:4, pages 486-490.
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Silvia Galbiati, Francesco Damin, Gabriele Di Carlo, Maurizio Ferrari, Laura Cremonesi & Marcella Chiari. (2008) Development of new substrates for high-sensitive genotyping of minority mutated alleles. ELECTROPHORESIS 29:23, pages 4714-4722.
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Stefania Battistella, Francesco Damin, Marcella Chiari, Kathleen Delgrosso, Saul Surrey, Paolo Fortina, Maurizio Ferrari & Laura Cremonesi. (2008) Genotyping β-Globin Gene Mutations on Copolymer-Coated Glass Slides with the Ligation Detection Reaction. Clinical Chemistry 54:10, pages 1657-1663.
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Thessalia Papasavva, Ioannis Kalikas, Andreanni Kyrri & Marina Kleanthous. (2008) Arrayed Primer Extension for the Noninvasive Prenatal Diagnosis of β-Thalassemia Based on Detection of Single Nucleotide Polymorphisms. Annals of the New York Academy of Sciences 1137:1, pages 302-308.
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Marina KleanthousMarios Phylactides. (2008) Thalassemia and its relevance to personalized medicine. Personalized Medicine 5:2, pages 141-153.
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