Found: 179
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Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosis.
- Published in:
- Animal Genetics, 2024, v. 55, n. 6, p. 801, doi. 10.1111/age.13485
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- Publication type:
- Article
Intragenic dystrophin (DMD) duplication variant in Entlebucher Mountain Dogs with Duchenne muscular dystrophy.
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- Animal Genetics, 2024, v. 55, n. 6, p. 849, doi. 10.1111/age.13475
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- Article
Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3192, doi. 10.3390/ijms24043192
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- Article
Selection signatures in goats reveal copy number variants underlying breed-defining coat color phenotypes.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 12, p. 1, doi. 10.1371/journal.pgen.1008536
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- Article
A RAPGEF6 variant constitutes a major risk factor for laryngeal paralysis in dogs.
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- PLoS Genetics, 2019, v. 15, n. 10, p. 1, doi. 10.1371/journal.pgen.1008416
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- Article
TSEN54 missense variant in Standard Schnauzers with leukodystrophy.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 10, p. 1, doi. 10.1371/journal.pgen.1008411
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- Article
NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia.
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- PLoS Genetics, 2019, v. 15, n. 9, p. 1, doi. 10.1371/journal.pgen.1008378
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- Article
An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008102
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- Article
Dog10K: an international sequencing effort to advance studies of canine domestication, phenotypes and health.
- Published in:
- National Science Review, 2019, v. 6, n. 4, p. 810, doi. 10.1093/nsr/nwz049
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- Article
FEELnc: a tool for long non-coding RNA annotation and its application to the dog transcriptome.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 8, p. 1, doi. 10.1093/nar/gkw1306
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- Article
Ancient segmentally duplicated LCORL retrocopies in equids.
- Published in:
- PLoS ONE, 2023, v. 17, n. 6, p. 1, doi. 10.1371/journal.pone.0286861
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- Article
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 537, doi. 10.1002/ajmg.a.36895
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- Article
Response to letter regarding "SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain".
- Published in:
- Journal of Veterinary Internal Medicine, 2023, v. 37, n. 3, p. 793, doi. 10.1111/jvim.16707
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- Publication type:
- Article
A novel missense variant in the L2HGDH gene in a cat with L‐2‐hydroxyglutaric aciduria and multicystic cerebral lesions.
- Published in:
- Journal of Veterinary Internal Medicine, 2023, v. 37, n. 2, p. 676, doi. 10.1111/jvim.16675
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- 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
Diagnostic potential of three serum microRNAs as biomarkers for equine sarcoid disease in horses and donkeys.
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- Journal of Veterinary Internal Medicine, 2021, v. 35, n. 1, p. 610, doi. 10.1111/jvim.16027
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- Publication type:
- Article
A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis.
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- Journal of Veterinary Internal Medicine, 2020, v. 34, n. 1, p. 289, doi. 10.1111/jvim.15663
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- Publication type:
- Article
Differences in miRNA differential expression in whole blood between horses with sarcoid regression and progression.
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- Journal of Veterinary Internal Medicine, 2019, v. 33, n. 1, p. 241, doi. 10.1111/jvim.15375
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- Publication type:
- Article
Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1.
- Published in:
- BMC Veterinary Research, 2016, v. 12, p. 1, doi. 10.1186/s12917-016-0739-z
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- Article
Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene.
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- BMC Veterinary Research, 2015, v. 11, n. 1, p. 1, doi. 10.1186/s12917-015-0334-8
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- Publication type:
- Article
DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle.
- Published in:
- BMC Veterinary Research, 2015, v. 11, n. 1, p. 1, doi. 10.1186/s12917-015-0366-0
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- Publication type:
- Article
Epidermolysa bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene.
- Published in:
- BMC Veterinary Research, 2015, v. 11, n. 1, p. 1, doi. 10.1186/s12917-015-0334-8
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- Publication type:
- Article
MKLN1 splicing defect in dogs with lethal acrodermatitis.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007264
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- Article
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
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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- Article
Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi.
- Published in:
- Veterinary Dermatology, 2019, v. 30, n. 1, p. 64, doi. 10.1111/vde.12699
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- Article
A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome.
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- Veterinary Dermatology, 2017, v. 28, n. 6, p. 616, doi. 10.1111/vde.12462
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- Article
Initial characterization of stiff skin-like syndrome in West Highland white terriers.
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- Veterinary Dermatology, 2016, v. 27, n. 3, p. 210, doi. 10.1111/vde.12316
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- Article
Heterozygous DSP in‐frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities.
- Published in:
- Animal Genetics, 2024, v. 55, n. 5, p. 725, doi. 10.1111/age.13467
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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 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 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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- Publication type:
- Article
Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis.
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- Animal Genetics, 2024, v. 55, n. 4, p. 588, doi. 10.1111/age.13441
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- Article
Renal dysplasia in Leonberger dogs – An emerging recessive congenital disorder?
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- Animal Genetics, 2024, v. 55, n. 4, p. 700, doi. 10.1111/age.13439
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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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- Publication type:
- 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
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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- Publication type:
- 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
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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- Publication type:
- 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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- Article
Mitochondrial fission factor (MFF) frameshift variant in Bullmastiffs with mitochondrial fission encephalopathy.
- Published in:
- 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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- Publication type:
- Article
A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia.
- Published in:
- Animal Genetics, 2022, v. 53, n. 5, p. 709, doi. 10.1111/age.13245
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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
Polyadenine insertion disrupting the G6PC1 gene in German Pinschers with glycogen storage disease type Ia (GSD1A).
- Published in:
- Animal Genetics, 2021, v. 52, n. 6, p. 900, doi. 10.1111/age.13146
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- Publication type:
- Article
A de novo in‐frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta.
- Published in:
- Animal Genetics, 2019, v. 50, n. 6, p. 786, doi. 10.1111/age.12843
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- Publication type:
- Article
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease.
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- 2019
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- Case Study
A COL2A1 de novo variant in a Holstein bulldog calf.
- Published in:
- 2019
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- Publication type:
- Abstract
Exclusion of adrenoceptor alpha 2 variants in a horse insensitive to medetomidine.
- Published in:
- 2018
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- Publication type:
- Case Study
Frame-shift variant in the CHRNE gene in a juvenile dog with suspected myasthenia gravis-like disease.
- Published in:
- Animal Genetics, 2017, v. 48, n. 5, p. 625, doi. 10.1111/age.12558
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- Publication type:
- Article