Detalhe da pesquisa
1.
Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.
PLoS Genet
; 19(2): e1010651, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36848397
2.
Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.
PLoS Genet
; 18(6): e1009804, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35709088
3.
A new Finnish flavor of feline coat coloration, "salmiak," is associated with a 95-kb deletion downstream of the KIT gene.
Anim Genet
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38721753
4.
A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia.
Hum Genet
; 142(8): 1221-1230, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37222814
5.
Correction: Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs.
PLoS Genet
; 15(1): e1007938, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30657768
6.
Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs.
PLoS Genet
; 14(4): e1007361, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29708978
7.
Defining the ABC of gene essentiality in streptococci.
BMC Genomics
; 18(1): 426, 2017 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28569133
8.
Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration.
Mamm Genome
; 27(5-6): 237-45, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27017229
9.
Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed.
BMC Genet
; 17(1): 123, 2016 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-27566131
10.
Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1.
Mamm Genome
; 26(1-2): 108-17, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25354648
11.
Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed.
PLoS Genet
; 8(1): e1002462, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22253609
12.
Association of FGF4L1 Retrogene Insertion with Prolapsed Gland of the Nictitans (Cherry Eye) in Dogs.
Genes (Basel)
; 15(2)2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397188
13.
Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation.
BMC Genet
; 13: 55, 2012 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22781464
14.
Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in Cavalier King Charles spaniel dogs. Part II: candidate gene study.
Vet Ophthalmol
; 15(5): 327-32, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22339941
15.
Large scale across-breed genome-wide association study reveals a variant in HMGA2 associated with inguinal cryptorchidism risk in dogs.
PLoS One
; 17(5): e0267604, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35617214
16.
Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration.
Genes (Basel)
; 10(5)2019 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31117272
17.
An intronic LINE-1 insertion in MERTK is strongly associated with retinopathy in Swedish Vallhund dogs.
PLoS One
; 12(8): e0183021, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28813472
18.
Correction: Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog.
PLoS One
; 11(5): e0156192, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27192202
19.
Paroxysmal Dyskinesia in Norwich Terrier Dogs.
Mov Disord Clin Pract
; 3(6): 573-579, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-30838250
20.
An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed.
G3 (Bethesda)
; 6(9): 2687-92, 2016 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27527794