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pro vyhledávání: '"Lisa G. Shaffer"'
Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little ov
Autor:
Chris Rorden, Lisa G. Shaffer, Helen Flores-Smith, Rudy Rivas, Marilee C. Griswold, Nan Moses, G Gregory Keller, Clifford R. Berry, Richard Malik
Publikováno v:
Human Genetics. 140:1525-1534
The unique appearance of Scottish Fold cats is caused by a single gene variant in TRPV4, which impacts the development of cartilage. This results in the ears folding forward and variable effects on articular cartilage and bone. While some find this a
Autor:
Kyle Sundin, Helen Flores-Smith, Christina J Ramirez, Lisa J Emerson, Casey R Carl, Blake C. Ballif, Lisa G. Shaffer
Publikováno v:
Human Genetics. 140:1581-1591
One of the most unique coat color patterns in the domestic dog is merle (also known as dapple in the dachshund breed), characterized by patches of normal pigmentation surrounded by diluted eumelanin pigment. In dogs, this striking variegated pattern
Autor:
Lisa G. Shaffer
Publikováno v:
Human Genetics. 140:1501-1503
Microarray analysis is an efficient approach for screening and identifying cytogenetic imbalances in humans. SNP arrays, in particular, are a powerful way to identify copy number gains and losses representing aneuploidy and aneusomy, but moreover, al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb529ecb17c7fde7ff8268efd9cdf364
https://doi.org/10.21203/rs.3.rs-575565/v1
https://doi.org/10.21203/rs.3.rs-575565/v1
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)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3207b5abddff377d0d019eabf996934
https://doi.org/10.21203/rs.3.rs-575619/v1
https://doi.org/10.21203/rs.3.rs-575619/v1
Publikováno v:
Human genetics. 140(11)
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)
Autor:
Melissa Krug, Christina J Ramirez, Lisa G. Shaffer, Kyle Sundin, Blake C. Ballif, Adam Zahand
Publikováno v:
Journal of Veterinary Diagnostic Investigation. 31:276-279
Canine inherited factor VII deficiency is a mild-to-moderate, inherited coagulopathy that affects several breeds of dog. We identified 2 polymorphisms near the disease-causing F7 gene mutation, one of which interfered with testing in several Beagles
Autor:
Karen E Hermetz, Scott Newman, Karen N Conneely, Christa L Martin, Blake C Ballif, Lisa G Shaffer, Jannine D Cody, M Katharine Rudd
Publikováno v:
PLoS Genetics, Vol 10, Iss 1, p e1004139 (2014)
Inverted duplications are a common type of copy number variation (CNV) in germline and somatic genomes. Large duplications that include many genes can lead to both neurodevelopmental phenotypes in children and gene amplifications in tumors. There are
Externí odkaz:
https://doaj.org/article/98cb361d57bb4a7581e7900cda9814ba
Autor:
Lisa G. Shaffer, Anja Geretschlaeger, Robert Loechel, Julia H. Segert, June E Swinburne, Ramon Royal, Blake C. Ballif, Christina J Ramirez, Kyle Sundin
Publikováno v:
Human Genetics
This publication represents a proposed approach to quality standards and guidelines for canine clinical genetic testing laboratories. Currently, there are no guidelines for laboratories performing clinical testing on dogs. Thus, there is no consensus