Works (4)

Updated: July 5th, 2023 15:34

2020 journal article

A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels

Neuromuscular Disorders, 30(5), 353–359.

By: N. Olby n, S. Friedenberg*, K. Meurs n, D. DeProspero n, J. Guevar n, J. Lau n, O. Yost n, L. Guo*, G. Shelton*

author keywords: Canine; Centronuclear myopathy; Myotubularin myopathy
MeSH headings : Animals; Dogs; Male; Myopathies, Structural, Congenital / genetics; Myopathies, Structural, Congenital / pathology; Myopathies, Structural, Congenital / physiopathology; Pedigree; Phenotype; Protein Tyrosine Phosphatases, Non-Receptor / genetics
Sources: Web Of Science, ORCID, Crossref
Added: June 29, 2020

2019 journal article

A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death

Human Genetics, 138(5), 515–524.

By: K. Meurs n, S. Friedenberg*, J. Kolb*, C. Saripalli*, P. Tonino*, K. Woodruff n, N. Olby n, B. Keene n ...

MeSH headings : Amino Acid Sequence; Animals; Base Sequence; Cardiomyopathy, Dilated / genetics; Cardiomyopathy, Dilated / veterinary; Connectin / genetics; Death, Sudden, Cardiac / etiology; Death, Sudden, Cardiac / veterinary; Disease Models, Animal; Dogs; Female; Genetic Predisposition to Disease / genetics; Male; Mutation, Missense / genetics; Protein Kinases / genetics; Whole Genome Sequencing
Sources: Web Of Science, ORCID, Crossref
Added: June 17, 2019

2018 journal article

A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers

Journal of Veterinary Internal Medicine, 32(3), 986–992.

author keywords: bone; cartilage; genetics; multiple cartilaginous exostoses; mutation; osteochondroma
MeSH headings : Animals; Cartilage / pathology; Dog Diseases / genetics; Dog Diseases / pathology; Dogs; Female; Genetic Variation / genetics; Male; Mosaicism / veterinary; N-Acetylglucosaminyltransferases / genetics; Osteochondromatosis / genetics; Osteochondromatosis / pathology; Osteochondromatosis / veterinary; Polymorphism, Single Nucleotide / genetics; Whole Genome Sequencing / veterinary
Sources: Web Of Science, ORCID, Crossref
Added: August 6, 2018

2018 journal article

Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene

Journal of Veterinary Internal Medicine, 32(2), 665–669.

By: J. Guevar n, N. Olby n, K. Meurs n, O. Yost n & S. Friedenberg*

author keywords: deafness; Doberman Pinscher; genetics; PTPRQ; vestibular disease
MeSH headings : Animals; Dog Diseases / genetics; Dogs; Female; Frameshift Mutation; Hearing Loss / genetics; Hearing Loss / veterinary; Receptor-Like Protein Tyrosine Phosphatases, Class 3 / genetics; Vestibular Diseases / genetics; Vestibular Diseases / veterinary; Whole Genome Sequencing
Sources: Web Of Science, ORCID, Crossref
Added: August 6, 2018