Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Tiia Reimand"'
Autor:
Lidiia Zhytnik, Maire Peters, Kadi Tilk, Tiia Reimand, Piret Ilisson, Tiina Kahre, Ülle Murumets, Aivar Ehrenberg, Eva-Liina Ustav, Neeme Tõnisson, Signe Mölder, Hindrek Teder, Kaarel Krjutškov, Andres Salumets
Publikováno v:
BMC Pregnancy and Childbirth, Vol 22, Iss 1, Pp 1-6 (2022)
Abstract Background Permanent progression of paternal age and development of reproductive medicine lead to increase in number of children conceived with assisted reproductive techniques (ART). Although it is uncertain if ARTs have direct influence on
Externí odkaz:
https://doaj.org/article/8343de04706a450ab28fa6e2b5b729a1
Publikováno v:
Clinical and Translational Science, Vol 13, Iss 5, Pp 960-971 (2020)
Osteogenesis imperfecta (OI) is a rare genetic disorder also known as a “brittle bone disease.” Around 90% of patients with OI harbor loss‐of‐function or dominant negative pathogenic variants in the COL1A1 and COL1A2 genes, which code for col
Externí odkaz:
https://doaj.org/article/67657ff7bc4c4b8692ed38e99348ba28
Autor:
Konstantin Ridnõi, Kai Muru, Maria Keernik, Sander Pajusalu, Eva‐Liina Ustav, Pille Tammur, Triin Mölter‐Väär, Tiina Kahre, Ustina Šamarina, Karin Asser, Ferenc Szirko, Tiia Reimand, Katrin Õunap
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract Background Introduction of cell‐free fetal DNA (cff‐DNA) testing in maternal blood opened possibilities to improve the performance of combined first‐trimester screening (cFTS) in terms of better detection of trisomies and lowering inva
Externí odkaz:
https://doaj.org/article/a1bd234398de46adb422b1616e776216
Autor:
Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Trujillano, Irene Valenzuela, Eduardo F Tizzano, Alessandro Mauro Spinelli, Irene Bruno, Aurora Currò, Franco Stanzial, Francesco Benedicenti, Diego Lopergolo, Filippo Maria Santorelli, Constantia Aristidou, George A Tanteles, Isabelle Maystadt, Tinatin Tkemaladze, Tiia Reimand, Helen Lokke, Katrin Õunap, Maria K Haanpää, Andrea Holubová, Veronika Zoubková, Martin Schwarz, Riina Žordania, Kai Muru, Laura Roht, Annika Tihveräinen, Rita Teek, Ulvi Thomson, Isis Atallah, Andrea Superti-Furga, Sabrina Buoni, Roberto Canitano, Valeria Scandurra, Annalisa Rossetti, Salvatore Grosso, Roberta Battini, Margherita Baldassarri, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Mirella Bruttini, Francesca Mari, Francesca Ariani, Alessandra Renieri, Anna Maria Pinto
Publikováno v:
Human molecular genetics, 31(24), 4131-4142. Oxford University Press
Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M K, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Atallah, I, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M A, Rizzo, C L, Bruttini, M, Mari, F, Ariani, F, Renieri, A & Pinto, A M 2022, ' Natural history of KBG syndrome in a large European cohort ', Human Molecular Genetics, vol. 31, no. 24, pp. 4131-4142 . https://doi.org/10.1093/hmg/ddac167
Human Molecular Genetics, 31(24), 4131-4142. Oxford University Press
Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M K, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Atallah, I, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M A, Rizzo, C L, Bruttini, M, Mari, F, Ariani, F, Renieri, A & Pinto, A M 2022, ' Natural history of KBG syndrome in a large European cohort ', Human Molecular Genetics, vol. 31, no. 24, pp. 4131-4142 . https://doi.org/10.1093/hmg/ddac167
Human Molecular Genetics, 31(24), 4131-4142. Oxford University Press
KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natural history
Autor:
Kaisa Teele Oja, Mihkel Ilisson, Karit Reinson, Kai Muru, Tiia Reimand, Hedi Peterson, Dmytro Fishman, Tõnu Esko, Toomas Haller, Jaanika Kronberg, Monica H. Wojcik, Adam Kennedy, Gregory Michelotti, Anne O’Donnell-Luria, Eve Õiglane-Šlik, Sander Pajusalu, Katrin Õunap
Publikováno v:
medRxiv
IntroductionEpilepsy is a common central nervous system disorder characterized by abnormal brain electrical activity. We aimed to compare the metabolic profiles of plasma from patients with epilepsy across different etiologies, seizure frequency, sei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8217fce3ef36565998e8d5a9579e5dad
https://europepmc.org/articles/PMC10081398/
https://europepmc.org/articles/PMC10081398/
Publikováno v:
Clinical and Translational Science
Clinical and Translational Science, Vol 13, Iss 5, Pp 960-971 (2020)
Clinical and Translational Science, Vol 13, Iss 5, Pp 960-971 (2020)
Osteogenesis imperfecta (OI) is a rare genetic disorder also known as a "brittle bone disease." Around 90% of patients with OI harbor loss-of-function or dominant negative pathogenic variants in the COL1A1 and COL1A2 genes, which code for collagen ty
Autor:
Konstantin Ridnõi, Andres Salumets, Kadri Rekker, Tiia Reimand, Priit Paluoja, Neeme Tõnisson, Eva-Liina Ustav, Lauris Kaplinski, Martin Sauk, Priit Palta, Joris Vermeesch, Hindrek Teder, Olga Žilina, Ants Kurg, Kaarel Krjutškov
Publikováno v:
Prenatal Diagnosis. 39:1262-1268
OBJECTIVE The study aimed to validate a whole-genome sequencing-based NIPT laboratory method and our recently developed NIPTmer aneuploidy detection software with the potential to integrate the pipeline into prenatal clinical care in Estonia. METHOD
Autor:
Karin Asser, Sander Pajusalu, Pille Tammur, Konstantin Ridnõi, Ustina Šamarina, Kai Muru, Ferenc Szirko, Tiia Reimand, Eva-Liina Ustav, Katrin Õunap, Maria Keernik, Tiina Kahre, Triin Mölter-Väär
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Background Introduction of cell‐free fetal DNA (cff‐DNA) testing in maternal blood opened possibilities to improve the performance of combined first‐trimester screening (cFTS) in terms of better detection of trisomies and lowering invasive test
Autor:
Andres Salumets, Olga Tšuiko, Tatjana Jatsenko, Olev Poolamets, Quoc Ty Tran, Dmitri Lubenets, Maire Peters, Margus Punab, Tiia Reimand
Publikováno v:
Journal of Assisted Reproduction and Genetics. 36:91-97
PURPOSE: The purpose of this study was to develop a feasible approach for single sperm isolation and chromosome analysis by next-generation sequencing (NGS). METHODS: Single sperm cells were isolated from semen samples of normozoospermic male and an
Autor:
Katharina Steindl, Alain Verloes, Cornelia Kraus, Rachel Fisher, Katrin Õunap, Amber Begtrup, Steffen Syrbe, Theresa Brunet, Antonio Vitobello, Laurence Faivre, Reza Asadollahi, Jessica Becker, Maja Hempel, Dave A Dyment, Christiane Zweier, John H McDermott, Bernt Popp, Elaine Suk-Ying Goh, Lynette G. Sadleir, Anaïs Begemann, Siddharth Banka, Gwenaël Le Guyader, Elisabeth Schuler, Anne-Sophie Denommé-Pichon, Kathleen Brown, Gaetan Lesca, Frédéric Tran Mau-Them, Lucia Ribeiro Machado Haertel, Maryline Carneiro, Amelie Theresa Van der Ven, Markus Zweier, Hartmut Engels, Heinrich Sticht, Theresia Herget, Jessika Johannsen, Bader Alhaddad, Nadine N. Hauer, Robert C. Day, Tiia Reimand, M. J. Hajianpour, Manuel Schiff, Kirsty McWalter, Margarita Saenz, Tatjana Bierhals, Pierre Meyer, Ange-Line Bruel, Martina Russo, Korbinian M. Riedhammer, Kirsten Cremer, Anita Rauch, Marjolaine Willems
Publikováno v:
Begemann, A, Sticht, H, Begtrup, A, Vitobello, A, Faivre, L, Banka, S, Alhaddad, B, Asadollahi, R, Becker, J, Bierhals, T, Brown, KE, Bruel, AL, Brunet, T & Rauch, A 2020, ' New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01011-x
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, pp.543-554. ⟨10.1038/s41436-020-01011-x⟩
Genetics in Medicine, 23
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, pp.543-554. ⟨10.1038/s41436-020-01011-x⟩
Genetics in Medicine, 23
International audience; Purpose: A few de novo missense variants in the cytoplasmic FMRP-interacting protein 2 (CYFIP2) gene have recently been described as a novel cause of severe intellectual disability, seizures, and hypotonia in 18 individuals, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29708452a474550beae4525de9ef236e
https://doi.org/10.1038/s41436-020-01011-x
https://doi.org/10.1038/s41436-020-01011-x