Lisa G. Shaffer

Readiness for scale up following effectiveness-implementation trial: results of scalability assessment of the Community Partnership Program for diabetes self-management for older adults with multiple chronic conditions

Melissa Northwood, Tracey Chambers, Kathryn Fisher, Rebecca Ganann et autres

BACKGROUND: Implementation research should assess the feasibility of scale up to bridge the evidence-practice gap for integrated care programs in the prevention and management of chronic conditions. Scalability assessment is the first critical step of scale up to determine the potential suitability …

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DNA methylation dysregulation patterns in the 1p36 region instability

Joanna Swierkowska, Michał Kabza, Małgorzata Rydzanicz, Maciej Giefing et autres

In the monosomy 1p36 deletion syndrome, the role of DNA methylation in the genomic stability of the 1p36 region remains elusive. We hypothesize that changes in the methylation pattern at the 1p36 breakpoint hotspot region influenced the chromosomal breakage leading to terminal …

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Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat

Griffin D. Shaffer, Blake C. Ballif, Kathryn M. Meurs, Lisa G. Shaffer et autres

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Special issue on companion animal genetics: Novel variants discovered in wide variety of diseases in dogs, identification and further characterization of traits in dogs and cats, and the use of microarrays in the detection of aneuploidy in dogs

Lisa G. Shaffer

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Radiographical Survey of Osteochondrodysplasia in Scottish Fold Cats caused by the TRPV4 gene variant

Chris Rorden, Marilee C. Griswold, Nan Moses, Clifford R. Berry et autres

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The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding

Blake C. Ballif, Lisa J. Emerson, Christina J. Ramirez, Kyle Sundin et autres

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Identification of aneuploidy in dogs screened by a SNP microarray

Lisa G. Shaffer, Bradley Hopp, M. Świtoński, Adam Zahand et autres

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Identification of Aneuploidy in Dogs Screened by a SNP Microarray

Lisa G. Shaffer, Bradley Hopp, M. Świtoński, Adam Zahand et autres

pl (code pays fourni par la source)

Identification of a Novel Missense Mutation in the Fibroblast Growth Factor 5 Gene Associated with Longhair in the Maine Coon Cat

Lisa G. Shaffer, Griffin D. Shaffer, Blake C. Ballif, Kathryn M. Meurs et autres

Abstract Hair length can be a highly variable trait within the Felis catus species, varying between and within different cat breeds. Previous research has demonstrated this variability is due to recessive mutations within the fibroblast growth factor 5 (FGF5) gene. Following a …

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Osteochondrodysplasia in Scottish Fold cats with the TRPV4 gene variant

Chris Rorden, Marilee C. Griswold, Nan Moses, Clifford R. Berry et autres

XRays from cats where some carry one copy of the folded-ear gene and others carry no copies of this mutant gene.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Ryan N. Traylor, Lisa G. Shaffer, G Bradley Schaefer, Jill A. Rosenfeld et autres

Chromosomal band 1q21.1 can be divided into two distinct regions, proximal and distal, based on segmental duplications that mediate recurrent rearrangements. Microdeletions and microduplications of the distal region within 1q21.1, which are susceptibility factors for a variety of neurodevelopmental phenotypes, have been …

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

Pamela Sklar, Melissa T. Carter, Vanessa Ota, Stephen W. Scherer et autres

We performed whole-genome sequencing on an individual from a family with variable psychiatric phenotypes that had a sensory processing disorder, apraxia, and autism. The proband harbored a maternally inherited balanced translocation (46,XY,t(11;14)(p12;p12)mat) that disrupted LRRC4C, a member of the highly specialized netrin …

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