Hannes Lohi
University of Helsinki
254 Papers
867 Citations
Hannes Lohi is an academic researcher from University of Helsinki. The author has contributed to research in topics: Biology & Population. The author has an hindex of 47, co-authored 228 publications. Previous affiliations of Hannes Lohi include Technische Universität München & Hacettepe University.
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Papers
An ADAMTS17 splice donor site mutation in dogs with primary lens luxation
Fabiana H. G. Farias,Gary S. Johnson,Jeremy F. Taylor,Elizabeth A. Giuliano,Martin L. Katz,Douglas N. Sanders,Robert D. Schnabel,Stephanie D. McKay,Shahnawaz Khan,Puya Gharahkhani,C. A. O'Leary,Louise Pettitt,Oliver P. Forman,Mike Boursnell,Bryan McLaughlin,Saija Ahonen,Hannes Lohi,Elena Hernandez-Merino,David J. Gould,David R. Sargan,Cathryn S. Mellersh +20 more
TL;DR: A truncating mutation in canine ADAMTS17 causes PLL, a well-characterized veterinary disease, which can now be compared to a recently described rare WMS-like disease caused by truncating mutations of the human ADAMts17 ortholog.
Canine models of human rare disorders
Marjo K. Hytönen,Hannes Lohi +1 more
- 28 Sep 2016
TL;DR: The pathophysiological similarity of human and canine syndromes is demonstrated, and it is suggested that joint efforts to characterize both human and dog rare diseases could provide additional benefits to the advancement of the field of rare diseases.
Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies
Julia E. Niskanen,Vilma Reunanen,Milla Salonen,Danika L. Bannasch,Anu K. Lappalainen,Hannes Lohi,Marjo K. Hytönen +6 more
TL;DR: A frameshift deletion variant in the Wnt pathway gene dishevelled 2 (DVL2) is associated with a truncated, kinked tail ("screw tail") in English Bulldogs, French Bulldogs and Boston Terriers.
Clinical and genetic findings in 26 Italian patients with Lafora disease.
Silvana Franceschetti,Antonio Gambardella,Laura Canafoglia,Pasquale Striano,Hannes Lohi,Elena Gennaro,Leonarda Ianzano,Pierangelo Veggiotti,Vito Sofia,Roberto Biondi,Salvatore Striano,Cinzia Gellera,Grazia Annesi,Francesca Madia,Donata Civitelli,Francesca E. Rocca,Aldo Quattrone,Giuliano Avanzini,Berge A. Minassian,Federico Zara +19 more
TL;DR: Clinical and genetic findings of 26 Italian LD patients are reported, finding that EPM2B patients show a slower course of the disease, with delayed age at death, compared with E PM2A patients.
Benign Familial Juvenile Epilepsy in Lagotto Romagnolo Dogs
Tarja S. Jokinen,Liisa Metsähonkala,Luciana Bergamasco,Ranno Viitmaa,Pernilla Syrjä,Hannes Lohi,Marjatta Snellman,Janis Jeserevics,Sigitas Cizinauskas +8 more
TL;DR: This disorder, with simple or complex focal seizures and cerebellar lesions, represents a newly recognized epileptic syndrome in dogs andPedigree analysis suggests an autosomal recessive mode of inheritance.