Search Results - "Oitmaa, Eneli"

Single Passage of Human Metapneumovirus in LLC-MK2 Cells Does Not Affect Viral Protein-Coding Capacity by Loevenich, Simon, Ianevski, Aleksandr, Oitmaa, Eneli, Kainov, Denis E, Anthonsen, Marit W

“…Here, we report the complete genome sequences of human metapneumovirus (HMPV) prior to and after passaging in LLC-MK2 cells. Paired comparisons of the…”
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Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome by PEREIRO, Ines, HOSKINS, Bethan E, MARSHALL, Jan D, COLLIN, Gayle B, NAGGERT, Jürgen K, PINEIRO-GALLEGO, Teresa, OITMAA, Eneli, KATSANIS, Nicholas, VALVERDE, Diana, BEALES, Philip L

“…Bardet-Biedl syndrome (BBS; OMIM no. 209 900) and Alström syndrome (ALMS; OMIM no. 203 800) are rare, multisystem genetic disorders showing both a highly…”
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High carrier frequency of the 35delG deafness mutation in European populations by Gasparini, Paolo, Rabionet, Raquel, Barbujani, Guido, Melchionda, Salvatore, Petersen, Michael, Brøndum-Nielsen, Karen, Metspalu, Andres, Oitmaa, Eneli, Pisano, Marina, Fortina, Paolo, Zelante, Leopoldo, Estivill, Xavier

“…Congenital deafness accounts for about 1 in 1000 infants and approximately 80% of cases are inherited as an autosomal recessive trait. Recently, it has been…”
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Cumulative Small Effect Genetic Markers and the Risk of Colorectal Cancer in Poland, Estonia, Lithuania, and Latvia by Metspalu, Andres, Janavičius, Ramūnas, Razumas, Mindaugas, Petrulis, Kestutis, Irmejs, Arvīds, Miklaševičs, Edvīns, Scott, R. J., Lubiński, Jan, Oitmaa, Eneli, Roomere, Hanno, Banaszkiewicz, Zbigniew, Sobieszczańska, Tatiana, Derkacz, Róża, Kurzawski, Grzegorz, Dymerska, Dagmara, Serrano-Fernandez, Pablo, Elsakov, Pavel

“…The continued identification of new low-penetrance genetic variants for colorectal cancer (CRC) raises the question of their potential cumulative effect among…”
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Simultaneous Multigene Mutation Detection in Patients With Sensorineural Hearing Loss Through a Novel Diagnostic Microarray: A New Approach for Newborn Screening Follow-up by Gardner, Phyllis, Oitmaa, Eneli, Messner, Anna, Hoefsloot, Lies, Metspalu, Andres, Schrijver, Iris

“…The advent of universal newborn hearing screening in the United States and other countries, together with the identification of genes involved in the process…”
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Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia by Teek, Rita, Kruustük, Katrin, Zordania, Riina, Joost, Kairit, Reimand, Tiia, Möls, Tõnu, Oitmaa, Eneli, Kahre, Tiina, Tõnisson, Neeme, Õunap, Katrin

“…Abstract Objective The purpose of this study was to determine the prevalence of c.35delG and p.M34T mutations in the GJB2 gene among children with early onset…”
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Arrayed primer extension microarray for the analysis of genes associated with congenital stationary night blindness by Vaidla, Kadri, Uksti, Janne, Zeitz, Christina, Oitmaa, Eneli

“…Arrayed primer extension (APEX) is a microarray-based genotyping method that enables to simultaneously analyze hundreds of known mutations in the genome…”
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Genotyping Microarray for the Detection of More Than 200 CFTR Mutations in Ethnically Diverse Populations by Schrijver, Iris, Oitmaa, Eneli, Metspalu, Andres, Gardner, Phyllis

“…Cystic fibrosis (CF), which is due to mutations in the cystic fibrosis transmembrane conductance regulator gene, is a common life-shortening disease. Although…”
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Arrayed primer extension technology simplifies mutation detection in BardetaBiedl and AlstrAPGm syndrome by Pereiro, Ines, Hoskins, Bethan E, Marshall, Jan D, Collin, Gayle B, Naggert, Jorgen K, Pieiro-Gallego, Teresa, Oitmaa, Eneli, Katsanis, Nicholas, Valverde, Diana, Beales, Philip L

“…Bardet-Biedl syndrome (BBS; OMIM no. 209a900) and AlstrAPGm syndrome (ALMS; OMIM no. 203a800) are rare, multisystem genetic disorders showing both a highly…”
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Molecular diagnosis of Down syndrome using quantitative APEX-2 microarrays by Oitmaa, Eneli, Peters, Maire, Vaidla, Kadri, Andreson, Reidar, Mägi, Reedik, Slavin, Georgi, Velthut, Agne, Tõnisson, Neeme, Reimand, Tiia, Remm, Maido, Schneider, Marion, Õunap, Katrin, Salumets, Andres, Metspalu, Andres

“…Objective To develop a new rapid and high‐throughput microarray‐based prenatal diagnostic test for the detection of trisomy 21 (T21). Methods The T21 arrayed…”
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Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss by Teek, Rita, Oitmaa, Eneli, Kruustük, Katrin, Zordania, Riina, Joost, Kairit, Raukas, Elve, Tõnisson, Neeme, Gardner, Phyllis, Schrijver, Iris, Kull, Mart, Õunap, Katrin

“…Summary Objective The aim of our study was to identify the IVS2-2A>G sequence change in the SLC 26A5 (Prestin) gene in Estonian individuals with hearing loss…”
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Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia by TEDER, MARIS, KLAASSEN, TIINA, OITMAA, ENELI, KAASIK, KRISTA, METSPALU, ANDRES

“…To scan for several known mutations simultaneously, a multiple allele specific primer extension (MASPE) method was developed. 23 Thirty eight mutations were…”
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Chapter 17 - Arrayed Primer Extension Microarrays for Molecular Diagnostics by Tonisson, Neeme, Oitmaa, Eneli, Krjutskov, Kaarel, Pullat, Janne, Lind, Ilona, Leego, Merike, Kurg, Ants, Metspalu, Andres

“…This chapter provides an introduction to Arrayed Primer Extension (APEX), which is a microarray-based approach. This method is well suited for testing known…”
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