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Items: 11

1.

Assembly and Analysis of Unmapped Genome Sequence Reads Reveal Novel Sequence and Variation in Dogs.

Holden LA, Arumilli M, Hytönen MK, Hundi S, Salojärvi J, Brown KH, Lohi H.

Sci Rep. 2018 Jul 18;8(1):10862. doi: 10.1038/s41598-018-29190-3.

2.

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

Niskanen J, Dillard K, Arumilli M, Salmela E, Anttila M, Lohi H, Hytönen MK.

PLoS One. 2017 May 11;12(5):e0177527. doi: 10.1371/journal.pone.0177527. eCollection 2017.

3.

Association study reveals novel risk loci for sporadic inclusion body myositis.

Johari M, Arumilli M, Palmio J, Savarese M, Tasca G, Mirabella M, Sandholm N, Lohi H, Hackman P, Udd B.

Eur J Neurol. 2017 Apr;24(4):572-577. doi: 10.1111/ene.13244. Epub 2017 Feb 24.

PMID:
28233382
4.

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

Wielaender F, Sarviaho R, James F, Hytönen MK, Cortez MA, Kluger G, Koskinen LL, Arumilli M, Kornberg M, Bathen-Noethen A, Tipold A, Rentmeister K, Bhatti SF, Hülsmeyer V, Boettcher IC, Tästensen C, Flegel T, Dietschi E, Leeb T, Matiasek K, Fischer A, Lohi H.

Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):2669-2674. doi: 10.1073/pnas.1614478114. Epub 2017 Feb 21.

5.

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

Holopainen S, Hytönen MK, Syrjä P, Arumilli M, Järvinen AK, Rajamäki M, Lohi H.

PLoS Genet. 2017 Feb 21;13(2):e1006625. doi: 10.1371/journal.pgen.1006625. eCollection 2017 Feb.

6.

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

Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drögemüller C, Lohi H.

PLoS Genet. 2016 May 17;12(5):e1006037. doi: 10.1371/journal.pgen.1006037. eCollection 2016 May.

7.

Targeted next-generation sequencing assay for detection of mutations in primary myopathies.

Evilä A, Arumilli M, Udd B, Hackman P.

Neuromuscul Disord. 2016 Jan;26(1):7-15. doi: 10.1016/j.nmd.2015.10.003. Epub 2015 Nov 25.

PMID:
26627873
8.

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

Koskinen LL, Seppälä EH, Belanger JM, Arumilli M, Hakosalo O, Jokinen P, Nevalainen EM, Viitmaa R, Jokinen TS, Oberbauer AM, Lohi H.

BMC Genomics. 2015 Jun 18;16:465. doi: 10.1186/s12864-015-1651-9.

9.

Increased expression of MERTK is associated with a unique form of canine retinopathy.

Ahonen SJ, Arumilli M, Seppälä E, Hakosalo O, Kaukonen MK, Komáromy AM, Lohi H.

PLoS One. 2014 Dec 17;9(12):e114552. doi: 10.1371/journal.pone.0114552. eCollection 2014.

10.

A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy.

Ahonen SJ, Arumilli M, Lohi H.

PLoS One. 2013 Aug 28;8(8):e72122. doi: 10.1371/journal.pone.0072122. eCollection 2013.

11.

A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII.

Hytönen MK, Arumilli M, Lappalainen AK, Kallio H, Snellman M, Sainio K, Lohi H.

PLoS One. 2012;7(7):e40281. doi: 10.1371/journal.pone.0040281. Epub 2012 Jul 5.

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