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24 results for Arumilli,+Meharji

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Intronic variant in POU1F1 associated with canine pituitary dwarfism
Author / Creator:Kyöstilä, Kaisa ; Niskanen, Julia E. ; Arumilli, Meharji ; Donner, Jonas ; Hytönen, Marjo K. ; Lohi, Hannes
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2021-11, Vol.140 (11), p.1553-1562
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Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss
Author / Creator:Hytönen, Marjo K. ; Niskanen, Julia E. ; Arumilli, Meharji ; Brookhart-Knox, Casey A. ; Donner, Jonas ; Lohi, Hannes
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2021-11, Vol.140 (11), p.1611-1618
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A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy
Author / Creator:Ahonen, Saija J. ; Arumilli, Meharji ; Lohi, Hannes
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-08, Vol.8 (8), p.e72122-e72122
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In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration
Author / Creator:Hytönen, Marjo K. ; Sarviaho, Riika ; Jackson, Christopher B. ; Syrjä, Pernilla ; Jokinen, Tarja ; Matiasek, Kaspar ; Rosati, Marco ; Dallabona, Cristina ; Baruffini, Enrico ; Quintero, Ileana ; Arumilli, Meharji ; Monteuuis, Geoffray ; Donner, Jonas ; Anttila, Marjukka ; Suomalainen, Anu ; Bindoff, Laurence A. ; Lohi, Hannes
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2021-11, Vol.140 (11), p.1593-1609
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Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs
Author / Creator:Dillard, Kati J. ; Ochs, Matthias ; Niskanen, Julia E. ; Arumilli, Meharji ; Donner, Jonas ; Kyöstilä, Kaisa ; Hytönen, Marjo K. ; Anttila, Marjukka ; Lohi, Hannes
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2020-03, Vol.16 (3), p.e1008651-e1008651
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A missense variant in IFT122 associated with a canine model of retinitis pigmentosa
Author / Creator:Kaukonen, Maria ; Pettinen, Inka-Tuulevi ; Wickström, Kaisa ; Arumilli, Meharji ; Donner, Jonas ; Juhola, Ida-Julia ; Holopainen, Saila ; Turunen, Joni A. ; Yoshihara, Masahito ; Kere, Juha ; Lohi, Hannes
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2021-11, Vol.140 (11), p.1569-1579
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Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs
Author / Creator:Niskanen, Julia ; Dillard, Kati ; Arumilli, Meharji ; Salmela, Elina ; Anttila, Marjukka ; Lohi, Hannes ; Hytönen, Marjo K.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-05, Vol.12 (5), p.e0177527-e0177527
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A putative silencer variant in a spontaneous canine model of retinitis pigmentosa
Author / Creator:Kaukonen, Maria ; Quintero, Ileana B. ; Mukarram, Abdul Kadir ; Hytönen, Marjo K. ; Holopainen, Saila ; Wickström, Kaisa ; Kyöstilä, Kaisa ; Arumilli, Meharji ; Jalomäki, Sari ; Daub, Carsten O. ; Kere, Juha ; Lohi, Hannes
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2020-03, Vol.16 (3), p.e1008659-e1008659
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Novel protective and risk loci in hip dysplasia in German Shepherds
Author / Creator:Mikkola, Lea I. ; Holopainen, Saila ; Lappalainen, Anu K. ; Pessa-Morikawa, Tiina ; Augustine, Thomas J. P. ; Arumilli, Meharji ; Hytönen, Marjo K. ; Hakosalo, Osmo ; Lohi, Hannes ; Iivanainen, Antti
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2019-07, Vol.15 (7), p.e1008197
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Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes
Author / Creator:Hytönen, Marjo K. ; Arumilli, Meharji ; Lappalainen, Anu K. ; Owczarek-Lipska, Marta ; Jagannathan, Vidhya ; Hundi, Sruthi ; Salmela, Elina ; Venta, Patrick ; Sarkiala, Eva ; Jokinen, Tarja ; Gorgas, Daniela ; Kere, Juha ; Nieminen, Pekka ; Drögemüller, Cord ; Lohi, Hannes
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2016-05, Vol.12 (5), p.e1006037-e1006037
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ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs
Author / Creator:Holopainen, Saila ; Hytönen, Marjo K. ; Syrjä, Pernilla ; Arumilli, Meharji ; Järvinen, Anna-Kaisa ; Rajamäki, Minna ; Lohi, Hannes
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2017-02, Vol.13 (2), p.e1006625
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A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia
Author / Creator:Kyöstilä, Kaisa ; Syrjä, Pernilla ; Lappalainen, Anu K. ; Arumilli, Meharji ; Hundi, Sruthi ; Karkamo, Veera ; Viitmaa, Ranno ; Hytönen, Marjo K. ; Lohi, Hannes
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-01, Vol.9 (1), p.973-973, Article 973
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Dog colour patterns explained by modular promoters of ancient canid origin
Author / Creator:Bannasch, Danika L. ; Kaelin, Christopher B. ; Letko, Anna ; Loechel, Robert ; Hug, Petra ; Jagannathan, Vidhya ; Henkel, Jan ; Roosje, Petra ; Hytönen, Marjo K. ; Lohi, Hannes ; Arumilli, Meharji ; Minor, Katie M. ; Mickelson, James R. ; Drögemüller, Cord ; Barsh, Gregory S. ; Leeb, Tosso
Publisher:London: Nature Publishing Group UK
Journal title:Nature ecology & evolution, 2021-10, Vol.5 (10), p.1415-1423
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Author Correction: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs
Author / Creator:Holden, Lindsay A. ; Arumilli, Meharji ; Hytönen, Marjo K. ; Hundi, Sruthi ; Salojärvi, Jarkko ; Brown, Kim H. ; Lohi, Hannes
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-08, Vol.8 (1), p.11853-1, Article 11853
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Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene
Author / Creator:Koskinen, Lotta L. E. ; Seppälä, Eija H. ; Belanger, Janelle M. ; Arumilli, Meharji ; Hakosalo, Osmo ; Jokinen, Päivi ; Nevalainen, Elisa M. ; Viitmaa, Ranno ; Jokinen, Tarja S. ; Oberbauer, Anita M. ; Lohi, Hannes
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2015-06, Vol.16 (1), p.465-465, Article 465
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Increased Expression of MERTK is Associated with a Unique Form of Canine Retinopathy
Author / Creator:Ahonen, Saija J. ; Arumilli, Meharji ; Seppälä, Eija ; Hakosalo, Osmo ; Kaukonen, Maria K. ; Komáromy, András M. ; Lohi, Hannes
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-12, Vol.9 (12), p.e114552-e114552
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A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII
Author / Creator:Hytönen, Marjo K. ; Arumilli, Meharji ; Lappalainen, Anu K. ; Kallio, Heli ; Snellman, Marjatta ; Sainio, Kirsi ; Lohi, Hannes
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-07, Vol.7 (7), p.e40281-e40281
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Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants
Author / Creator:Hytönen, Marjo K. ; Arumilli, Meharji ; Sarkiala, Eva ; Nieminen, Pekka ; Lohi, Hannes
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2019-05, Vol.138 (5), p.525-533
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The DoGA consortium expression atlas of promoters and genes in 100 canine tissues
Author / Creator:Hörtenhuber, Matthias ; Hytönen, Marjo K. ; Mukarram, Abdul Kadir ; Arumilli, Meharji ; Araujo, César L. ; Quintero, Ileana ; Syrjä, Pernilla ; Airas, Niina ; Kaukonen, Maria ; Kyöstilä, Kaisa ; Niskanen, Julia ; Jokinen, Tarja S. ; Mottaghitalab, Faezeh ; Takan, Işıl ; Salokorpi, Noora ; Raman, Amitha ; Stevens, Irene ; Iivanainen, Antti ; Yoshihara, Masahito ; Gusev, Oleg ; Bannasch, Danika ; Sukura, Antti ; Schoenebeck, Jeffrey J. ; Ezer, Sini ; Katayama, Shintaro ; Daub, Carsten O. ; Kere, Juha ; Lohi, Hannes
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-10, Vol.15 (1), p.9082-12, Article 9082
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Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1
Author / Creator:Wielaender, Franziska ; Sarviaho, Riika ; James, Fiona ; Hytönen, Marjo K. ; Cortez, Miguel A. ; Kluger, Gerhard ; Koskinen, Lotta L. E. ; Arumilli, Meharji ; Kornberg, Marion ; Bathen-Noethen, Andrea ; Tipold, Andrea ; Rentmeister, Kai ; Bhatti, Sofie F. M. ; Hülsmeyer, Velia ; Boettcher, Irene C. ; Tästensen, Carina ; Flegel, Thomas ; Dietschi, Elisabeth ; Leeb, Tosso ; Matiasek, Kaspar ; Fischer, Andrea ; Lohi, Hannes
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-03, Vol.114 (10), p.2669-2674
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Showing 1 to 20 of 24 results

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Intronic variant in POU1F1 associated with canine pituitary dwarfism

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Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss

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A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy

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In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration

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Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs

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A missense variant in IFT122 associated with a canine model of retinitis pigmentosa

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Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs

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A putative silencer variant in a spontaneous canine model of retinitis pigmentosa

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Novel protective and risk loci in hip dysplasia in German Shepherds

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Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

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ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs

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A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia

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Dog colour patterns explained by modular promoters of ancient canid origin

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Author Correction: Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs

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Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene

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Increased Expression of MERTK is Associated with a Unique Form of Canine Retinopathy

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A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII

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Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants

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The DoGA consortium expression atlas of promoters and genes in 100 canine tissues

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Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1

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