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Complex disease and phenotype mapping in the domestic dog

Nature communications, 2016-01, Vol.7 (1), p.10460-10460, Article 10460

2016

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Evaluation of Intrathecal Routes of Administration for Adeno-Associated Viral Vectors in Large Animals

Human gene therapy, 2018-01, Vol.29 (1), p.15

2018

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A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs

PloS one, 2017-01, Vol.12 (1), p.e0170708-e0170708

2017

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Imputation of canine genotype array data using 365 whole-genome sequences improves power of genome-wide association studies

PLoS genetics, 2019-09, Vol.15 (9), p.e1008003

2019

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MKLN1 splicing defect in dogs with lethal acrodermatitis

PLoS genetics, 2018-03, Vol.14 (3), p.e1007264-e1007264

2018

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Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines

The American journal of pathology, 2018-06, Vol.188 (6), p.1419-1429

2018

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Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia

American journal of human genetics, 2007-11, Vol.81 (5), p.1050-1056

2007

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Feline Fertility Consequences of inbreeding and implications for reproductive fitness

Journal of Feline Medicine and Surgery, 2022-09, Vol.24 (9), p.847-852

Casal, Margret L

2022

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Vitrification Using Soy Lecithin and Sucrose: A New Way to Store the Sperm for the Preservation of Canine Reproductive Function

Animals (Basel), 2020-04, Vol.10 (4), p.653

2020

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Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment

PloS one, 2015-09, Vol.10 (9), p.e0138943-e0138943

2015

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A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis

Genes, 2020-04, Vol.11 (4), p.469

2020

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Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs

PloS one, 2012-02, Vol.7 (2), p.e32072-e32072

2012

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Dose-dependent effects of enzyme replacement therapy on skeletal disease progression in mucopolysaccharidosis VII dogs

Molecular therapy. Methods & clinical development, 2023-03, Vol.28, p.12-26

2023

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A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder

G3 : genes - genomes - genetics, 2017-09, Vol.7 (9), p.3115-3121

2017

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Molecular and Therapeutic Characterization of Anti-ectodysplasin A Receptor (EDAR) Agonist Monoclonal Antibodies

The Journal of biological chemistry, 2011-09, Vol.286 (35), p.30769-30779

2011

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Congenital peritoneopericardial diaphragmatic hernia in a family of Persian cats

JFMS open reports, 2018-07, Vol.4 (2), p.2055116918804305

2018

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German Shorthaired Pointer dogs with exfoliative cutaneous lupus erythematosus develop immune-complex membranous glomerulonephropathy

Veterinary pathology, 2023-11, Vol.60 (6), p.843

2023

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Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs

Molecular genetics and metabolism, 2013-11, Vol.110 (3), p.319-328

2013

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KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex

Animal genetics, 2022-12, Vol.53 (6), p.892-896

2022

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Severe Papillomavirus Infection Progressing to Metastatic Squamous Cell Carcinoma in Bone Marrow-Transplanted X-Linked SCID Dogs

Journal of Virology, 2006-07, Vol.80 (13), p.6621-6628

2006

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Ultrastructural analysis of different skeletal cell types in mucopolysaccharidosis dogs at the onset of postnatal growth

Journal of anatomy, 2021-02, Vol.238 (2), p.416-425

2021

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Failures of Endochondral Ossification in the Mucopolysaccharidoses

Current osteoporosis reports, 2020-12, Vol.18 (6), p.759-773

2020

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Evaluation of tendon and ligament microstructure and mechanical properties in a canine model of mucopolysaccharidosis I

Journal of orthopaedic research, 2024-02

2024

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A review of gene therapy in canine and feline models of lysosomal storage disorders

Human gene therapy. Clinical development, 2015-03, Vol.26 (1), p.27

2015

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Complex disease and phenotype mapping in the domestic dog

Evaluation of Intrathecal Routes of Administration for Adeno-Associated Viral Vectors in Large Animals

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs

Imputation of canine genotype array data using 365 whole-genome sequences improves power of genome-wide association studies

MKLN1 splicing defect in dogs with lethal acrodermatitis

Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines

Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia

Feline Fertility Consequences of inbreeding and implications for reproductive fitness

Vitrification Using Soy Lecithin and Sucrose: A New Way to Store the Sperm for the Preservation of Canine Reproductive Function

Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment

A DSG1 Frameshift Variant in a Rottweiler Dog with Footpad Hyperkeratosis

Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs

Dose-dependent effects of enzyme replacement therapy on skeletal disease progression in mucopolysaccharidosis VII dogs

A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder

Molecular and Therapeutic Characterization of Anti-ectodysplasin A Receptor (EDAR) Agonist Monoclonal Antibodies

A Missense Variant Affecting the C-Terminal Tail of UNC93B1 in Dogs with Exfoliative Cutaneous Lupus Erythematosus (ECLE)

Congenital peritoneopericardial diaphragmatic hernia in a family of Persian cats

German Shorthaired Pointer dogs with exfoliative cutaneous lupus erythematosus develop immune-complex membranous glomerulonephropathy

Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs

KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex

Severe Papillomavirus Infection Progressing to Metastatic Squamous Cell Carcinoma in Bone Marrow-Transplanted X-Linked SCID Dogs

Ultrastructural analysis of different skeletal cell types in mucopolysaccharidosis dogs at the onset of postnatal growth

Failures of Endochondral Ossification in the Mucopolysaccharidoses

Evaluation of tendon and ligament microstructure and mechanical properties in a canine model of mucopolysaccharidosis I

A review of gene therapy in canine and feline models of lysosomal storage disorders

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