Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Marja‐Leena Väisänen"'
Autor:
Thashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, Liz M. Nouel‐Saied, Marja‐Leena Väisänen, Minna Kraatari, Elisa Rahikkala, Irma Jarvela, Jouko Kotimäki, Suzanne M. Leal
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 3, Pp n/a-n/a (2022)
Abstract Background The genetic architecture of hearing impairment in Finland is largely unknown. Here, we investigated two Finnish families with autosomal recessive nonsyndromic symmetrical moderate‐to‐severe hearing impairment. Methods Exome an
Externí odkaz:
https://doaj.org/article/cbb5456d32564b2dbad9eab4e1b6f46a
Autor:
Tuula Arkkola, Matti Nuutinen, Maria K Haanpää, Marja-Leena Väisänen, Päivi J. Miettinen, Katariina Latva, Päivi Myllynen, Riikka Keski-Filppula, Kari Kaunisto, Virpi Sidoroff, Pekka Valmari, Johanna Uusimaa, Elisa Rahikkala, Irina I Nagy, Marja Ojaniemi, Päivi Vieira
Cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) deficiency due to the homozygous PCK1 variant has recently been associated with childhood-onset hypoglycemia with a recognizable pattern of abnormal urine organic acids. In this study 21 children
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d20a81f8a7091a7775f554f28b632014
http://hdl.handle.net/10138/353343
http://hdl.handle.net/10138/353343
Autor:
Hannu Tuominen, Päivi Vieira, Yaping Yang, Silvana van Koningsbruggen, Simone Weiss, Johanna Uusimaa, Matti Myllykoski, Jonne Westermann, Reginald E. Bittner, Marja-Leena Väisänen, Jukka S. Moilanen, Lauri A. Aaltonen, Wolfgang M. Schmidt, Astrid S Plomp, Reetta Hinttala, Andrea M. Lewis, Outi Kuismin, Hannaleena Kokkonen, Elisa Rahikkala, Peppi Koivunen, G. Bernert, Xia Wang, Mitja I. Kurki, Aarno Palotie, Naemeh Nayebzadeh, Lorraine Potocki
Publikováno v:
Genetics in Medicine
Genetics in medicine, 21(10), 2355-2363. Lippincott Williams and Wilkins
Genetics in Medicine, 21(10), 2355-2363. Lippincott Williams and Wilkins
Genetics in medicine, 21(10), 2355-2363. Lippincott Williams and Wilkins
Genetics in Medicine, 21(10), 2355-2363. Lippincott Williams and Wilkins
A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate ge
Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
Autor:
Gert Matthijs, Marja-Leena Väisänen, Jukka S. Moilanen, Johan L.K. Van Hove, Gunter Scharer, Kathryn E. Kronquist, Vincent Mahieu, Cécile Acquaviva, Magdalena Ugarte, Pilar Rodríguez-Pombo, Irene Bravo-Alonso, Geralyn Creadon-Swindell, Celia Pérez-Cerdá, Michael A. Swanson, Elisa Rahikkala, Christine Vianey-Saban, Curtis R. Coughlin, Elaine B. Spector, Ana M. Brás-Goldberg, Tim Hutchin
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(9)
The original supplementary information included with this article contained several minor errors. Corrected Supplementary Information accompanies this corrigendum.
Autor:
Vincent Mahieu, Cécile Acquaviva, Irene Bravo-Alonso, Kathryn E. Kronquist, Gert Matthijs, Tim Hutchin, Gunter Scharer, Michael A. Swanson, Pilar Rodríguez-Pombo, Magdalena Ugarte, Geralyn Creadon-Swindell, Elaine B. Spector, Celia Pérez-Cerdá, Jukka S. Moilanen, Ana M. Brás-Goldberg, Curtis R. Coughlin, Elisa Rahikkala, Christine Vianey-Saban, Marja-Leena Väisänen, Johan L.K. Van Hove
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2017, 19 (1), pp.104--111. ⟨10.1038/gim.2016.74⟩
Genetics in Medicine, Nature Publishing Group, 2017, 19 (1), pp.104--111. ⟨10.1038/gim.2016.74⟩
International audience; Purpose: The study's purpose was to delineate the genetic mutations that cause classic nonketotic hyperglycinemia (NKH). Methods: Genetic results, parental phase, ethnic origin, and gender data were collected from subjects sus
Autor:
Tuija Löppönen, Aarno Dietz, Ari Kosunen, Marja-Leena Väisänen, Antti Hyvärinen, Hannu Valtonen, Jaakko Ignatius, Heikki Löppönen
Publikováno v:
Acta Oto-laryngologica. :1-12
The genetic and audiological data support the hypothesis that the p.M34T is a pathogenic mutation in the Finnish population. The p.M34T mutation displays an autosomal recessive pattern of inheritance and is associated with mild to moderate nonsyndrom
Autor:
Päivi Lindholm, Tuija Löppönen, Johanna Uusimaa, Elina Mäki-Torkko, Mirja Luotonen, J. Leisti, Marja-Leena Väisänen, Mirja Väyrynen, Minna Allinen, Heikki Löppönen
Publikováno v:
The Laryngoscope. 113:1758-1763
Objective: The aims of the present study were to evaluate the role of the gap junction protein β-2 gene (GJB2), encoding connexin 26 (Cx26), in children with moderate to profound prelingual nonsyndromic sensorineural hearing impairment (HI) and to i
Publikováno v:
American Journal of Medical Genetics. 43:307-311
Linkage analysis was performed in 34 fragile X (fra(X)) families in order to study the efficiency of carrier detection using the restriction fragment length polymorphisms (RFLPs) closely linked to fra(X) locus (FRAXA). The marker loci used were F9, D
Autor:
Haide Põder, Tiina Talvik, Elve Raukas, Tiina Kahre, Marja-Leena Väisänen, Gunnar Tasa, Oliver Bartsch, Tiiu Ilus, Katrin Õunap, Riina Zordania, Eve Õiglane-Shlik
Publikováno v:
American journal of medical genetics. Part A. 140(18)
In 2000-2004, we performed a focused search for individuals with Angelman syndrome (AS) and Prader-Willi syndrome (PWS) aiming to establish the prevalence data for the individuals born between 1984 and 2004 in Estonia. All persons with probable AS or
Autor:
Stephanie L. Sherman, François Rousseau, Alice D. Gargano, Sarah L. Nolin, Anne Glicksman, James N. Macpherson, Marja-Leena Väisänen, Peter Steinbach, Harriet von Koskull, W. Ted Brown, Valérie Biancalana, Gert Matthijs, John W. Longshore, Helle Hjalgrim, Karen Brøndum-Nielsen, R. Frank Kooy, Amy K. Sullivan, Elke Holinski-Feder, George E. Houck, Jean-Louis Mandel
Publikováno v:
The American journal of human genetics
The CGG repeat in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1) exhibits remarkable instability upon transmission from mothers with premutation alleles. A collaboration of 13 laboratories in eight countries was establis