Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Ülle Murumets"'
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
Autor:
Laura Roht, Mikk Tooming, Kadri Rekker, Hanno Roomere, Kadri Toome, Ülle Murumets, Ustina Šamarina, Katrin Õunap, Tiina Kahre
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Colorectal cancer (CRC) is the third most common cancer in Estonia in both women and men. According to the Estonian National Institute for Health Development, in 2017, there were 357 new colon cancer only cases in women and 282 in men. Fo
Externí odkaz:
https://doaj.org/article/9ae31b56fc134c9cac31a3a4ca7b601e
Autor:
Hannes Jürgens, Laura Roht, Liis Leitsalu, Margit Nõukas, Marili Palover, Tiit Nikopensius, Anu Reigo, Mart Kals, Kersti Kallak, Riina Kütner, Kai Budrikas, Saskia Kuusk, Vahur Valvere, Piret Laidre, Kadri Toome, Kadri Rekker, Mikk Tooming, Ülle Murumets, Tiina Kahre, Krista Kruuv-Käo, Katrin Õunap, Peeter Padrik, Andres Metspalu, Tõnu Esko, Krista Fischer, Neeme Tõnisson
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Although hereditary breast cancer screening and management are well accepted and established in clinical settings, these efforts result in the detection of only a fraction of genetic predisposition at the population level. Here, we describe our exper
Externí odkaz:
https://doaj.org/article/c00f41df49fe491cbba2b6ab1143c687
Autor:
Hardo Lilleväli, Sander Pajusalu, Monica H. Wojcik, Julia Goodrich, Ryan L. Collins, Ülle Murumets, Pille Tammur, Nenad Blau, Kersti Lilleväli, Katrin Õunap
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Dihydropteridine reductase (DHPR) is one of the key enzymes for maintaining in the organism the supply of tetrahydrobiopterin (BH4), an essential cofactor for aromatic amino acid hydroxylases. Its dysfunction causes the condition
Externí odkaz:
https://doaj.org/article/37a56a2eb2774d13ab3875744ea30e23
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:
Hardo Lilleväli, Karit Reinson, Kai Muru, Siret Saarsalu, Kadi Künnapas, Tiina Kahre, Ülle Murumets, Katrin Õunap
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 19, Iss , Pp - (2019)
Blood phenylalanine (Phe) values from the dried blood spots of all Estonian phenylketonuria (PKU) patients have been deposited into a unified electronic laboratory database for eight years, providing an opportunity to assess the adherence of the pati
Externí odkaz:
https://doaj.org/article/aaa26324ac1148c3980ce02a12e447fd
Autor:
Maarja Hallik, Hiie Soeorg, Tiina Kahre, Ülle Murumets, Mari-Liis Ilmoja, Karin Kipper, Tuuli Metsvaht
Publikováno v:
British Journal of Clinical Pharmacology. 88:4155-4162
Aim: To determine whether the known single nucleotide polymorphisms in adrenoreceptor associated genes affect the hemodynamic response to dobutamine in critically ill neonates. Methods: Alleles in the known genetic single nucleotide polymorphisms in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b40dd2078ad8f51551506aeaf439146
https://doi.org/10.1111/bcp.15357
https://doi.org/10.1111/bcp.15357
Autor:
Vallo Tillmann, Karit Reinson, Pille Mee, Rita Teek, Mari-Anne Vals, Tiina Kahre, Sander Pajusalu, Ülle Murumets, Eve Õiglane-Shlik, Riina Žordania, Katrin Õunap, Aleksandr Peet, Maria Yakoreva, Monica H. Wojcik
Publikováno v:
Eur J Hum Genet
Imprinting disorders (ImpDis) represent a small group of rare congenital diseases primarily affecting growth, development, and the hormonal and metabolic systems. The aim of present study was to identify the prevalence of the ImpDis in Estonia, to de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ba2f0340a30674307147d809ff9946d
https://doi.org/10.1038/s41431-019-0446-x
https://doi.org/10.1038/s41431-019-0446-x
Autor:
Katrin Õunap, Ülle Murumets, Hardo Lilleväli, Ryan L. Collins, Kersti Lilleväli, Nenad Blau, Monica H. Wojcik, Julia K. Goodrich, Sander Pajusalu, Pille Tammur
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Background Dihydropteridine reductase (DHPR) is one of the key enzymes for maintaining in the organism the supply of tetrahydrobiopterin (BH4), an essential cofactor for aromatic amino acid hydroxylases. Its dysfunction causes the condition of hyperp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51a2e346554c73640a9f53c142e41335
https://doi.org/10.5167/uzh-196259
https://doi.org/10.5167/uzh-196259
Autor:
Katrin Õunap, Hanno Roomere, Kristi Simenson, Ülle Murumets, Tiia Reimand, Tiina Kahre, Laura Roht, Sander Pajusalu
Publikováno v:
Clinical Genetics. 93:78-83
BACKGROUND In addition to whole exomes, large gene panels of clinically associated genes are used as high-throughput sequencing tests in many clinical centers, but their clinical utility has been much less investigated. MATERIALS AND METHODS Here we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::770201e8998a70cedc7ec8aed4b46c12
https://doi.org/10.1111/cge.13031
https://doi.org/10.1111/cge.13031