Detalhe da pesquisa
1.
Variants in FtsJ RNA 2'-O-Methyltransferase 3 and Growth Hormone 1 are associated with small body size and a dental anomaly in dogs.
Proc Natl Acad Sci U S A
; 117(40): 24929-24935, 2020 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32958658
2.
Pathologic characterization of canine multiple system degeneration in the Ibizan hound.
Vet Pathol
; 59(1): 132-137, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34490804
3.
Chromosome-length genome assembly and structural variations of the primal Basenji dog (Canis lupus familiaris) genome.
BMC Genomics
; 22(1): 188, 2021 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33726677
4.
A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs.
Mol Genet Metab
; 127(1): 107-115, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31101435
5.
Variants within the SP110 nuclear body protein modify risk of canine degenerative myelopathy.
Proc Natl Acad Sci U S A
; 113(22): E3091-100, 2016 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-27185954
6.
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.
Neurogenetics
; 18(1): 39-47, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27891564
7.
A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs.
Neurobiol Dis
; 86: 75-85, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26607784
8.
Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas.
Mol Genet Metab
; 118(4): 326-32, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27211611
9.
A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.
BMC Vet Res
; 10: 960, 2015 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25551667
10.
A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry.
Mol Genet Metab
; 112(4): 302-9, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24953404
11.
Homozygous CNP Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions.
Genes (Basel)
; 15(2)2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397235
12.
GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease.
Mol Genet Metab
; 108(1): 70-5, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23266199
13.
A simple genetic architecture underlies morphological variation in dogs.
PLoS Biol
; 8(8): e1000451, 2010 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20711490
14.
A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency.
Genes (Basel)
; 14(9)2023 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761886
15.
A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria.
BMC Vet Res
; 8: 124, 2012 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22834903
16.
Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis.
Proc Natl Acad Sci U S A
; 106(8): 2794-9, 2009 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-19188595
17.
Resolving the evolution of extant and extinct ruminants with high-throughput phylogenomics.
Proc Natl Acad Sci U S A
; 106(44): 18644-9, 2009 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-19846765
18.
Lysosomal storage disease associated with a CNP sequence variant in Dalmatian dogs.
Gene
; 830: 146513, 2022 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35447247
19.
Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome.
Genes (Basel)
; 13(11)2022 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36421833
20.
Exploring genetic variation and population structure in a threatened species, Noturus placidus, with whole-genome sequence data.
G3 (Bethesda)
; 12(4)2022 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35188205