Found: 33
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Is a de novo nonsense variant in the ASPDH gene the cause of ulcerative skin lesions in a Holstein calf?
- Published in:
- Veterinary Dermatology, 2020, v. 31, n. 3, p. 244, doi. 10.1111/vde.12827
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- Publication type:
- Article
CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 22, p. 12440, doi. 10.3390/ijms222212440
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- Publication type:
- Article
An IL17RA frameshift variant in a Holstein cattle family with psoriasis-like skin alterations and immunodeficiency.
- Published in:
- BMC Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12863-020-00860-4
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- Article
KCNG1 -Related Syndromic Form of Congenital Neuromuscular Channelopathy in a Crossbred Calf.
- Published in:
- 2021
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- Publication type:
- Case Study
Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep.
- Published in:
- Genes, 2020, v. 11, n. 10, p. 1147, doi. 10.3390/genes11101147
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- Publication type:
- Article
DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects.
- Published in:
- BMC Veterinary Research, 2022, v. 18, n. 1, p. 1, doi. 10.1186/s12917-021-03113-3
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- Publication type:
- Article
Thrombocytopenic purpura on an organic farm with pen mating: a case report on the re-emergence of an old disease.
- Published in:
- Porcine Health Management, 2020, v. 6, n. 1, p. 1, doi. 10.1186/s40813-020-00157-z
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- Publication type:
- Article
High confidence copy number variants identified in Holstein dairy cattle from whole genome sequence and genotype array data.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-64680-3
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- Publication type:
- Article
A Missense Variant in PLP2 in Holstein Cattle with X-Linked Congenital Mast Cell Tumor.
- Published in:
- Animals (2076-2615), 2022, v. 12, n. 18, p. 2329, doi. 10.3390/ani12182329
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- Publication type:
- Article
Reverse Genetic Screen for Deleterious Recessive Variants in the Local Simmental Cattle Population of Switzerland.
- Published in:
- Animals (2076-2615), 2021, v. 11, n. 12, p. 3535, doi. 10.3390/ani11123535
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- Publication type:
- Article
A Heterozygous Missense Variant in MAP2K2 in a Stillborn Romagnola Calf with Skeletal-Cardio-Enteric Dysplasia.
- Published in:
- Animals (2076-2615), 2021, v. 11, n. 7, p. 1931, doi. 10.3390/ani11071931
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- Publication type:
- Article
X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA.
- Published in:
- Animals (2076-2615), 2021, v. 11, n. 3, p. 657, doi. 10.3390/ani11030657
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- Publication type:
- Article
Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis.
- Published in:
- Animals (2076-2615), 2021, v. 11, n. 3, p. 624, doi. 10.3390/ani11030624
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- Publication type:
- Article
A De Novo Mutation in COL1A1 in a Holstein Calf with Osteogenesis Imperfecta Type II.
- Published in:
- Animals (2076-2615), 2021, v. 11, n. 2, p. 561, doi. 10.3390/ani11020561
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- Publication type:
- Article
A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers–Danlos Syndrome.
- Published in:
- Animals (2076-2615), 2020, v. 10, n. 11, p. 2002, doi. 10.3390/ani10112002
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- Publication type:
- Article
Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success.
- Published in:
- Genetics Selection Evolution, 2021, v. 53, n. 1, p. 1, doi. 10.1186/s12711-021-00686-3
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- Publication type:
- Article
A major QTL at the LHCGR/FSHR locus for multiple birth in Holstein cattle.
- Published in:
- Genetics Selection Evolution, 2021, v. 53, n. 1, p. 1, doi. 10.1186/s12711-021-00650-1
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- Publication type:
- Article
A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle.
- Published in:
- Journal of Veterinary Internal Medicine, 2023, v. 37, n. 6, p. 2631, doi. 10.1111/jvim.16865
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- Publication type:
- Article
A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle.
- Published in:
- Journal of Veterinary Internal Medicine, 2022, v. 36, n. 1, p. 292, doi. 10.1111/jvim.16316
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- Publication type:
- Article
A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex.
- Published in:
- Journal of Veterinary Internal Medicine, 2020, v. 34, n. 6, p. 2800, doi. 10.1111/jvim.15943
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- Publication type:
- Article
Four novel candidate causal variants for deficient homozygous haplotypes in Holstein cattle.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09403-6
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- Publication type:
- Article
MFSD2A frameshift variant in Kerry Hill sheep with microcephaly.
- Published in:
- Animal Genetics, 2024, v. 55, n. 1, p. 152, doi. 10.1111/age.13374
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- Publication type:
- Article
DYRK1B haploinsufficiency in a Holstein cattle with epilepsy.
- Published in:
- Animal Genetics, 2023, v. 54, n. 5, p. 623, doi. 10.1111/age.13348
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- Publication type:
- Article
MYH3‐associated non‐syndromic palatoschisis (cleft palate, CP) in Limousine cattle.
- Published in:
- Animal Genetics, 2023, v. 54, n. 4, p. 581, doi. 10.1111/age.13317
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- Publication type:
- Article
A germline de novo variant in NUMB associated with a double‐outlet right ventricle in Chianina cattle.
- Published in:
- Animal Genetics, 2022, v. 53, n. 5, p. 713, doi. 10.1111/age.13236
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- Publication type:
- Article
Associated regions for multiple birth in Brown Swiss and Original Braunvieh cattle on chromosomes 15 and 11.
- Published in:
- Animal Genetics, 2022, v. 53, n. 5, p. 557, doi. 10.1111/age.13229
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- Publication type:
- Article
Is a heterozygous missense variant in SGSH the cause of a syndromic form of congenital amastia in an Original Braunvieh calf?
- Published in:
- Animal Genetics, 2022, v. 53, n. 4, p. 530, doi. 10.1111/age.13207
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- Publication type:
- Article
A de novo start‐lost variant in ANKRD28 in a Holstein calf with dwarfism.
- Published in:
- Animal Genetics, 2022, v. 53, n. 3, p. 470, doi. 10.1111/age.13204
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- Publication type:
- Article
A de novo variant in the bovine ADAMTSL4 gene in an Original Braunvieh calf with congenital cataract.
- Published in:
- Animal Genetics, 2022, v. 53, n. 3, p. 416, doi. 10.1111/age.13178
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- Publication type:
- Article
The previously reported LRP4 c.4940C>T variant is not associated with syndactyly in cattle.
- Published in:
- Animal Genetics, 2021, v. 52, n. 3, p. 380, doi. 10.1111/age.13061
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- Publication type:
- Article
A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis.
- Published in:
- Animal Genetics, 2021, v. 52, n. 2, p. 244, doi. 10.1111/age.13033
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- Publication type:
- Article
A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.
- Published in:
- Molecular Genetics & Genomics, 2021, v. 296, n. 6, p. 1313, doi. 10.1007/s00438-021-01824-8
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- Publication type:
- Article
Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy.
- Published in:
- Molecular Genetics & Genomics, 2021, v. 296, n. 1, p. 235, doi. 10.1007/s00438-020-01742-1
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- Publication type:
- Article