Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Reet Rein"'
Autor:
Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane-Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 15, Iss , Pp 80-89 (2018)
Objective: Reaching a genetic diagnosis of mitochondrial disorders (MDs) is challenging due to their broad phenotypic and genotypic heterogeneity. However, there is growing evidence that the use of whole exome sequencing (WES) for diagnosing patients
Externí odkaz:
https://doaj.org/article/c6819098f45c44c3bfb487313109db89
Autor:
Audrey Ker Shin Soo, Sanna Puusepp, Niccolo E. Mencacci, Burcu Atasu, Joaquin Campos, Jinye Dai, Nicholas W. Wood, Javier Simón-Sánchez, Alan M. Pittman, Manju A Kurian, Ebba Lohmann, Katrin Õunap, Thomas Gasser, Dimitri Krainc, Liis Kadastik-Eerme, Karit Reinson, Thomas T. Warner, Arianna Tucci, Thomas C. Südhof, Bettina Balint, Christopher Patzke, Michael Schwake, Reet Rein, Apostolos Papandreou, Paulina Gonzalez-Latapi, Sarah Wiethoff, Claudio Acuna, Gemma L. Carvill, Sander Pajusalu, Hasmet Hanagasi, Christian Rosenmund, Tiiu Tomberg, Kailash P. Bhatia, Marisa M Brockmann, Gabriela Pino
Publikováno v:
J Clin Invest
The journal of clinical investigation 131(7), e140625 (2021). doi:10.1172/JCI140625
The journal of clinical investigation 131(7), e140625 (2021). doi:10.1172/JCI140625
Dystonia is a debilitating hyperkinetic movement disorder, which can be transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense and missense variants in TSPOAP1, encoding the active zone RIM-binding protein 1 (RIMBP1), as
Autor:
Ebba Lohmann, Karit Reinson, Sanna Puusepp, Niccolo E. Mencacci, Michael Schwake, Christian Rosenmund, Marisa M Brockmann, Burcu Atasu, Hasmet Hanagasi, Katrin Õunap, Christopher Patzke, Thomas W Warner, Liis Kadastik-Eerme, Apostolos Papandreou, Alan Pittmann, Sarah Wiethoff, Thomas Gasser, Paulina Gonzalez-Latapi, Kailash P. Bhatia, Bettina Balint, Arianna Tucci, Reet Rein, Gemma L. Carvill, Sander Pajusalu, Nicholas W. Wood, Manju A. Kurian, Gabriela Pino, Audrey Ker Shin Soo, Javier Simón-Sánchez, Thomas C. Südhof, Joaquin Campos, Dimitri Krainc, Jinye Dai, Tiiu Tomberg, Claudio Acuna
Dystonia is a debilitating hyperkinetic movement disorder, frequently transmitted as a monogenic trait. Here, we describe homozygous frameshift, nonsense and missense variants inTSPOAP1, encoding the active zone RIM-binding protein 1 (RIMBP1), as a n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1894dafc0a2d585a79b7dbf3199a239
https://doi.org/10.1101/2020.05.24.086215
https://doi.org/10.1101/2020.05.24.086215
Autor:
Inga Talvik, Katrin Õunap, Klari Noormets, Pilvi Ilves, Tiina Talvik, Anneli Kolk, Rael Laugesaar, Aita Napa, Reet Rein, Tiia Reimand, Ulvi Vaher, Eve Õiglane-Shlik, Oivi Uibo, Kadi Veri
Publikováno v:
Journal of child neurology. 33(9)
The aim of this prospective epidemiological study was to establish the incidence rate of childhood epilepsy in Estonia, to describe the clinical spectrum and to identify etiology of childhood epilepsy. The overall incidence rate was 86.3/100 000. The
Autor:
Reet Rein, Katrin Õunap, Ülle Murumets, Richard J. Rodenburg, Eve Õiglane-Shlik, Sanna Puusepp, Inga Talvik, Sander Pajusalu, Karit Reinson
Publikováno v:
Molecular Genetics and Metabolism Reports, 15, 80-89
Molecular Genetics and Metabolism Reports, Vol 15, Iss, Pp 80-89 (2018)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, 15, pp. 80-89
Molecular Genetics and Metabolism Reports, Vol 15, Iss, Pp 80-89 (2018)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, 15, pp. 80-89
Objective: Reaching a genetic diagnosis of mitochondrial disorders (MDs) is challenging due to their broad phenotypic and genotypic heterogeneity. However, there is growing evidence that the use of whole exome sequencing (WES) for diagnosing patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2098b84b5d3e3594a7473055404f7dce
http://hdl.handle.net/2066/191900
http://hdl.handle.net/2066/191900
Autor:
Külliki Krabbi, Frans V. Verheijen, Reet Rein, Inga Talvik, Riina Zordania, Kairit Joost, Jan G.M. Huijmans, Katrin Õunap
Publikováno v:
Genetic Testing and Molecular Biomarkers. 16:846-849
Previous studies on the prevalence of mucopolysaccharidoses (MPS) in different populations have shown considerable variations. There are, however, few data with regard to the prevalence of MPSs in Fenno–Ugric populations or in north-eastern Europe,
Autor:
Gajja S. Salomons, Mairi Männamaa, Inga Talvik, K. Kall, C. Jakobs, Reet Rein, Katrin Õunap, Helen Puusepp
Publikováno v:
Journal of Inherited Metabolic Disease. 33:5-11
The urinary creatine:creatinine (Cr:Crn) ratio was measured in males from 49 families with a family history compatible with X-linked mental retardation (XLMR) in order to estimate the prevalence of SLC6A8 deficiency in Estonia. We identified 11 boys
Autor:
Rita Teek, Olga Žilina, Sanna Puusepp, Pille Tammur, Inga Talvik, Tiiu Tomberg, Tiia Reimand, Ulvi Vaher, Katrin Õunap, Reet Rein, Eve Õiglane-Shlik
Publikováno v:
European Journal of Paediatric Neurology
Monosomy 1p36 is the most common subtelomeric deletion syndrome seen in humans. Uniform features of the syndrome include early developmental delay and consequent intellectual disability, muscular hypotonia, and characteristic dysmorphic facial featur
Autor:
Kaja Metsküla, Eve Õiglane-Šlik, Ulvi Vaher, Aili Traat, Raivo Uibo, Tiina Talvik, Oivi Uibo, Kadi Veri, Inga Talvik, Reet Rein, Anneli Kolk, Aita Napa
Publikováno v:
Epilepsy Research
Glutamic acid decarboxylase autoantibodies (GADA) and anti-cardiolipin autoantibodies (ACA) have been detected in adult subjects with epilepsy, though the functional implications of these findings are a matter of debate. This study aimed to determine
Autor:
Katrin Õunap, Ulvi Vaher, Helen Puusepp-Benazzouz, Tiia Reimand, Michael Field, Reet Rein, Maire Peters, Anne Proos
Publikováno v:
European journal of medical genetics. 55(3)
Mutations in the KDM5C gene (lysine (K)-specific demethylase 5C gene; also known as JARID1C and SMCX; MIM 314690) were recently associated with X-linked intellectual disability (XLID). To date only two case reports and five studies that screen for mu