Found: 217
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Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis.
- Published in:
- Animal Genetics, 2024, v. 55, n. 4, p. 588, doi. 10.1111/age.13441
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- Article
KRT5 in‐frame deletion in a family of German Shepherd dogs with split paw pad disease resembling localized epidermolysis bullosa simplex in human patients.
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- Animal Genetics, 2024, v. 55, n. 4, p. 692, doi. 10.1111/age.13444
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- Article
Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi.
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- Animal Genetics, 2024, v. 55, n. 4, p. 697, doi. 10.1111/age.13436
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- Article
Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome.
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- Animal Genetics, 2024, v. 55, n. 4, p. 705, doi. 10.1111/age.13446
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- Article
Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis.
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- Animal Genetics, 2024, v. 55, n. 3, p. 490, doi. 10.1111/age.13423
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- Article
Single‐cell profiling of bronchoalveolar cells reveals a Th17 signature in neutrophilic severe equine asthma.
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- Immunology, 2024, v. 171, n. 4, p. 549, doi. 10.1111/imm.13745
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- Article
NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-53314-7
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- Article
Polioencephalopathy in Eurasier dogs.
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- Journal of Veterinary Internal Medicine, 2024, v. 38, n. 1, p. 277, doi. 10.1111/jvim.16945
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- Article
Naturally occurring canine laminopathy leading to a dilated and fibrosing cardiomyopathy in the Nova Scotia Duck Tolling Retriever.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-46601-2
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- Article
Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis.
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- Animal Genetics, 2023, v. 54, n. 5, p. 652, doi. 10.1111/age.13341
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- Article
Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa.
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- Genes, 2023, v. 14, n. 10, p. 1835, doi. 10.3390/genes14101835
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- Article
Special Issue: "Canine Genetics 2".
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- Genes, 2023, v. 14, n. 10, p. 1930, doi. 10.3390/genes14101930
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- Article
Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers-Danlos syndrome.
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- G3: Genes | Genomes | Genetics, 2023, v. 13, n. 9, p. 1, doi. 10.1093/g3journal/jkad152
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- Article
Heterozygous ATP2A2 missense variant identified in a Shih Tzu with Darier disease.
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- Animal Genetics, 2023, v. 54, n. 4, p. 558, doi. 10.1111/age.13314
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- Article
SDR9C7 missense variant in a Chihuahua with non‐epidermolytic ichthyosis.
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- Animal Genetics, 2023, v. 54, n. 4, p. 562, doi. 10.1111/age.13319
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- Article
RALGAPA1 Deletion in Belgian Shepherd Dogs with Cerebellar Ataxia.
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- Genes, 2023, v. 14, n. 8, p. 1520, doi. 10.3390/genes14081520
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- Article
SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy.
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- 2023
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- Case Study
SOAT1 missense variant in two cats with sebaceous gland dysplasia.
- Published in:
- Molecular Genetics & Genomics, 2023, v. 298, n. 4, p. 837, doi. 10.1007/s00438-023-02020-6
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- Article
Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes.
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- PLoS Genetics, 2023, v. 19, n. 6, p. 1, doi. 10.1371/journal.pgen.1010805
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- Article
Ancient segmentally duplicated LCORL retrocopies in equids.
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- PLoS ONE, 2023, v. 17, n. 6, p. 1, doi. 10.1371/journal.pone.0286861
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- Article
STK36 splice site variant in an Australian Shepherd dog with primary ciliary dyskinesia.
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- Animal Genetics, 2023, v. 54, n. 3, p. 412, doi. 10.1111/age.13306
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- Article
PKD1 Nonsense Variant in a Lagotto Romagnolo Family with Polycystic Kidney Disease.
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- Genes, 2023, v. 14, n. 6, p. 1210, doi. 10.3390/genes14061210
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- Article
A TNR Frameshift Variant in Weimaraner Dogs with an Exercise‐Induced Paroxysmal Movement Disorder.
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- Movement Disorders, 2023, v. 38, n. 6, p. 1094, doi. 10.1002/mds.29391
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- Article
Response to letter regarding "SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain".
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- Journal of Veterinary Internal Medicine, 2023, v. 37, n. 3, p. 793, doi. 10.1111/jvim.16707
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- Article
Methemoglobinemia, Increased Deformability and Reduced Membrane Stability of Red Blood Cells in a Cat with a CYB5R3 Splice Defect.
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- Cells (2073-4409), 2023, v. 12, n. 7, p. 991, doi. 10.3390/cells12070991
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- Article
Genomic Diversity and Runs of Homozygosity in Bernese Mountain Dogs.
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- Genes, 2023, v. 14, n. 3, p. 650, doi. 10.3390/genes14030650
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- Article
A novel missense variant in the L2HGDH gene in a cat with L‐2‐hydroxyglutaric aciduria and multicystic cerebral lesions.
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- Journal of Veterinary Internal Medicine, 2023, v. 37, n. 2, p. 676, doi. 10.1111/jvim.16675
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- Publication type:
- Article
Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3192, doi. 10.3390/ijms24043192
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- Article
A CDH23 missense variant in Beauceron dogs with non‐syndromic deafness.
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- Animal Genetics, 2023, v. 54, n. 1, p. 73, doi. 10.1111/age.13273
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- Publication type:
- Article
SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain.
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- Journal of Veterinary Internal Medicine, 2023, v. 37, n. 1, p. 230, doi. 10.1111/jvim.16610
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- Publication type:
- Article
Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis.
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- Communications Biology, 2022, p. 1, doi. 10.1038/s42003-022-04279-8
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- Article
Mitochondrial fission factor (MFF) frameshift variant in Bullmastiffs with mitochondrial fission encephalopathy.
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- Animal Genetics, 2022, v. 53, n. 6, p. 814, doi. 10.1111/age.13263
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- Article
KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex.
- Published in:
- Animal Genetics, 2022, v. 53, n. 6, p. 892, doi. 10.1111/age.13257
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- Article
PCYT1A Missense Variant in Vizslas with Disproportionate Dwarfism.
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- Genes, 2022, v. 13, n. 12, p. 2354, doi. 10.3390/genes13122354
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- Publication type:
- Article
A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis.
- Published in:
- PLoS ONE, 2022, v. 17, n. 10, p. 1, doi. 10.1371/journal.pone.0275367
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- Article
Canine reference genome accuracy impacts variant calling: Lessons learned from investigating embryonic lethal variants.
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- Animal Genetics, 2022, v. 53, n. 5, p. 706, doi. 10.1111/age.13241
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- Article
A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia.
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- Animal Genetics, 2022, v. 53, n. 5, p. 709, doi. 10.1111/age.13245
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- Publication type:
- Article
ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101847
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- Publication type:
- Article
Long-Read Transcriptome of Equine Bronchoalveolar Cells.
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- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101722
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- Publication type:
- Article
EHBP1L1 Frameshift Deletion in English Springer Spaniel Dogs with Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) or Neonatal Losses.
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- Genes, 2022, v. 13, n. 9, p. 1533, doi. 10.3390/genes13091533
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- Article
Equine keratinocytes in the pathogenesis of insect bite hypersensitivity: Just another brick in the wall?
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- PLoS ONE, 2022, v. 17, n. 8, p. 1, doi. 10.1371/journal.pone.0266263
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- Publication type:
- Article
SLC25A12 Missense Variant in Nova Scotia Duck Tolling Retrievers Affected by Cerebellar Degeneration—Myositis Complex (CDMC).
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1223, doi. 10.3390/genes13071223
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- Publication type:
- Article
Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 797, doi. 10.3390/genes13050797
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- Publication type:
- Article
A COL5A2 In-Frame Deletion in a Chihuahua with Ehlers-Danlos Syndrome.
- Published in:
- Genes, 2022, v. 13, n. 5, p. 934, doi. 10.3390/genes13050934
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- Publication type:
- Article
ABHD5 frameshift deletion in Golden Retrievers with ichthyosis.
- Published in:
- G3: Genes | Genomes | Genetics, 2022, v. 12, n. 2, p. 1, doi. 10.1093/g3journal/jkab397
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- Publication type:
- Article
The Effects of FGF4 Retrogenes on Canine Morphology.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 325, doi. 10.3390/genes13020325
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- Publication type:
- Article
FYCO1 Frameshift Deletion in Wirehaired Pointing Griffon Dogs with Juvenile Cataract.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 334, doi. 10.3390/genes13020334
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- Article
Runs of homozygosity in Swiss goats reveal genetic changes associated with domestication and modern selection.
- Published in:
- Genetics Selection Evolution, 2022, v. 54, n. 1, p. 1, doi. 10.1186/s12711-022-00695-w
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- Article
Independent DSG4 frameshift variants in cats with hair shaft dystrophy.
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- Molecular Genetics & Genomics, 2022, v. 297, n. 1, p. 147, doi. 10.1007/s00438-021-01842-6
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- Publication type:
- Article
Diagnostic and prognostic potential of eight whole blood microRNAs for equine sarcoid disease.
- Published in:
- PLoS ONE, 2021, v. 16, n. 12, p. 1, doi. 10.1371/journal.pone.0261076
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- Article