Výsledky vyhledávání - "Christina J. Ramirez"

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5a520f28f5da6edabcd2d003a3c6fcee
https://doi.org/10.1007/s00439-021-02330-y

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Cyclic hematopoiesis in a mixed-breed dog: case report and brief review

Autor: Gary K. C. Lee, Courtney Barbosa, Gitte Andersen, Christina J. Ramirez, Matthew Kornya, Anthony Abrams-Ogg, Katherine Morrison, Gabriella Diamantino, R. Darren Wood, Janet Beeler-Marfisi, Fernanda Ampuero, Laetitia Tatiersky, Dorothee Bienzle

Publikováno v: Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc. 34(6)

An 8-wk-old, male, mixed-breed puppy was adopted from a rescue organization. From the time of adoption, the puppy suffered episodes of illness affecting various organ systems, which resolved with supportive therapy but relapsed once medical therapy w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917057172ecdc35f9d3ad6a57c83fe56
https://pubmed.ncbi.nlm.nih.gov/35904319

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Predicting copper toxicosis: relationship between the ATP7A and ATP7B gene mutations and hepatic copper quantification in dogs

Autor: Christina J Ramirez, Sharon Pindar

Publikováno v: Human Genetics. 138:541-546

This preliminary study summarizes the genotypes of 42 Labrador Retrievers and Labrador Retriever-Golden Retriever crosses and phenotypes a subset of ten of these dogs that are homozygous mutant, heterozygous, or homozygous normal for mutations in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d5b5112a5cf1ae16e6abd2029eda10
https://doi.org/10.1007/s00439-019-02010-y

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Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7852a5e2812ac7d68521912db8b84d65
https://doi.org/10.1177/1040638718825281

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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

Autor: Blake C, Ballif, Lisa J, Emerson, Christina J, Ramirez, Casey R, Carl, Kyle, Sundin, Helen, Flores-Smith, Lisa G, Shaffer

Publikováno v: Human genetics. 140(11)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::baa2d906460a52bda995184bb9b6bfeb
https://pubmed.ncbi.nlm.nih.gov/34370083

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Standards and guidelines for canine clinical genetic testing laboratories

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcebde7d574985bf05f15c31d2d3c1f6
https://doi.org/10.1007/s00439-018-1954-4

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The PMEL Gene and Merle in the Domestic Dog: A Continuum of Insertion Lengths Leads to a Spectrum of Coat Color Variations in Australian Shepherds and Related Breeds

Autor: Lisa G. Shaffer, Melissa Krug, Helen Flores-Smith, Adam Zahand, Blake C. Ballif, Kyle Sundin, Casey R Carl, Christina J Ramirez

Publikováno v: Cytogenetic and Genome Research. 156:22-34

Merle is a distinct coat color and pattern found in numerous species, including the domestic dog, characterized by patches of diluted eumelanin (black pigment) interspersed among areas of normal pigmentation. In dogs, this variegated pattern is cause

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::44da08464d4ad3c9be4f9720dc333528
https://doi.org/10.1159/000491408

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Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines

Autor: Casey R Carl, Blake C. Ballif, Anja Geretschlaeger, Lisa G. Shaffer, Christina J Ramirez

Publikováno v: Human Genetics

There is currently no oversight for canine clinical genetic testing laboratories. We published an initial set of standards and guidelines with the goal of providing a basis for which canine testing laboratories could evaluate their quality assurance

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::978b8aef92e2afd1ed4107c7530507ff
https://pubmed.ncbi.nlm.nih.gov/30982136

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The PMEL Gene and Merle in the Domestic Dog: A Continuum of Insertion Lengths Leads to a Spectrum of Coat Color Variations in Australian Shepherds and Related Breeds

Autor: Blake C, Ballif, Christina J, Ramirez, Casey R, Carl, Kyle, Sundin, Melissa, Krug, Adam, Zahand, Lisa G, Shaffer, Helen, Flores-Smith

Publikováno v: Cytogenetic and genome research. 156(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2bb3b445fad90de9d975d617f5c9ef8e
https://pubmed.ncbi.nlm.nih.gov/30071510

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An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland

Autor: Blake C. Ballif, Gila Kahila Bar-Gal, Christina J Ramirez, Patricia Phelps, Marta Walczak, Maya Aviram, Lisa G. Shaffer

Publikováno v: Cytogenetic and genome research. 153(4)

Genetic diseases occur in breeds used for law enforcement. As important team members, dogs are expected to operate at peak performance for several years and are significant investments for both the initial purchase and extensive, specialized training

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0492332ea7327bc075bab1ce6c8bade
https://pubmed.ncbi.nlm.nih.gov/29421799

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