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.
Frequency of RPGRIP1 and MAP9 genetic modifiers of canine progressive retinal atrophy, in 132 breeds of dog.
Anim Genet
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38752391
4.
Canine coat color E locus updates: Identification of a new MC1R variant causing 'sable' coat color in English Cocker Spaniels and a proposed update to the E locus dominance hierarchy.
Anim Genet
; 55(2): 291-295, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38282569
5.
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
6.
A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs.
Anim Genet
; 54(5): 606-612, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37438956
7.
Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs.
PLoS Genet
; 16(3): e1008651, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32150563
8.
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
9.
An across-breed validation study of 46 genetic markers in canine hip dysplasia.
BMC Genomics
; 22(1): 68, 2021 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33478395
10.
Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss.
Hum Genet
; 140(11): 1611-1618, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33983508
11.
Intronic variant in POU1F1 associated with canine pituitary dwarfism.
Hum Genet
; 140(11): 1553-1562, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33550451
12.
A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.
Hum Genet
; 140(11): 1569-1579, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33606121
13.
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.
Hum Genet
; 140(11): 1593-1609, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33835239
14.
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
15.
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
16.
Association of the FGF4L2 retrogene with fibrocartilaginous embolic myelopathy in dogs.
J Vet Intern Med
; 38(1): 258-267, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37916855
17.
Global Frequency Analyses of Canine Progressive Rod-Cone Degeneration-Progressive Retinal Atrophy and Collie Eye Anomaly Using Commercial Genetic Testing Data.
Genes (Basel)
; 14(11)2023 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38003037
18.
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to human.
Genome Med
; 15(1): 73, 2023 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37723491
19.
Support for involvement of glutamate decarboxylase 1 and neuropeptide Y in anxiety susceptibility.
Am J Med Genet B Neuropsychiatr Genet
; 159B(3): 316-27, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22328461
20.
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