Works matching IS 03406717 AND DT 2021 AND VI 140 AND IP 11

Results: 13

Special issue on companion animal genetics: Novel variants discovered in wide variety of diseases in dogs, identification and further characterization of traits in dogs and cats, and the use of microarrays in the detection of aneuploidy in dogs.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1501, doi. 10.1007/s00439-021-02375-z

By:

Shaffer, Lisa G.

Publication type:

Article

Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1517, doi. 10.1007/s00439-021-02373-1

By:

Shaffer, Griffin D.;
Ballif, Blake C.;
Meurs, Kathryn;
Shaffer, Lisa G.;
Flores-Smith, Helen

Publication type:

Article

Radiographical Survey of Osteochondrodysplasia in Scottish Fold Cats caused by the TRPV4 gene variant.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1525, doi. 10.1007/s00439-021-02337-5

By:

Rorden, Chris;
Griswold, Marilee C.;
Moses, Nan;
Berry, Clifford R.;
Keller, G. Gregory;
Rivas, Rudy;
Flores-Smith, Helen;
Shaffer, Lisa G.;
Malik, Richard

Publication type:

Article

The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1581, doi. 10.1007/s00439-021-02330-y

By:

Ballif, Blake C.;
Emerson, Lisa J.;
Ramirez, Christina J.;
Carl, Casey R.;
Sundin, Kyle;
Flores-Smith, Helen;
Shaffer, Lisa G.

Publication type:

Article

Identification of aneuploidy in dogs screened by a SNP microarray.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1619, doi. 10.1007/s00439-021-02318-8

By:

Shaffer, Lisa G.;
Hopp, Bradley;
Switonski, Marek;
Zahand, Adam;
Ballif, Blake C.

Publication type:

Article

Use of whole genome analysis to identify shared genomic variants across breeds in canine mitral valve disease.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1563, doi. 10.1007/s00439-021-02297-w

By:

Williams, Brian;
Friedenberg, Steven G.;
Keene, Bruce W.;
Tou, Sandy P.;
DeFrancesco, Teresa C.;
Meurs, Kathryn M.

Publication type:

Article

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1611, doi. 10.1007/s00439-021-02286-z

By:

Hytönen, Marjo K.;
Niskanen, Julia E.;
Arumilli, Meharji;
Brookhart-Knox, Casey A.;
Donner, Jonas;
Lohi, Hannes

Publication type:

Article

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1593, doi. 10.1007/s00439-021-02279-y

By:

Hytönen, Marjo K.;
Sarviaho, Riika;
Jackson, Christopher B.;
Syrjä, Pernilla;
Jokinen, Tarja;
Matiasek, Kaspar;
Rosati, Marco;
Dallabona, Cristina;
Baruffini, Enrico;
Quintero, Ileana;
Arumilli, Meharji;
Monteuuis, Geoffray;
Donner, Jonas;
Anttila, Marjukka;
Suomalainen, Anu;
Bindoff, Laurence A.;
Lohi, Hannes

Publication type:

Article

A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1547, doi. 10.1007/s00439-021-02271-6

By:

Mandigers, P. J. J.;
Van Steenbeek, F. G.;
Bergmann, W.;
Vos-Loohuis, M.;
Leegwater, P. A.

Publication type:

Article

A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1569, doi. 10.1007/s00439-021-02266-3

By:

Kaukonen, Maria;
Pettinen, Inka-Tuulevi;
Wickström, Kaisa;
Arumilli, Meharji;
Donner, Jonas;
Juhola, Ida-Julia;
Holopainen, Saila;
Turunen, Joni A.;
Yoshihara, Masahito;
Kere, Juha;
Lohi, Hannes

Publication type:

Article

Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1535, doi. 10.1007/s00439-021-02261-8

By:

Niskanen, Julia E.;
Reunanen, Vilma;
Salonen, Milla;
Bannasch, Danika;
Lappalainen, Anu K.;
Lohi, Hannes;
Hytönen, Marjo K.

Publication type:

Article

Intronic variant in POU1F1 associated with canine pituitary dwarfism.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1553, doi. 10.1007/s00439-021-02259-2

By:

Kyöstilä, Kaisa;
Niskanen, Julia E.;
Arumilli, Meharji;
Donner, Jonas;
Hytönen, Marjo K.;
Lohi, Hannes

Publication type:

Article

Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update.

Published in:

Human Genetics, 2021, v. 140, n. 11, p. 1505, doi. 10.1007/s00439-021-02256-5

By:

Rokhsar, Jennifer L.;
Canino, Julia;
Raj, Karthik;
Yuhnke, Scott;
Slutsky, Jeffrey;
Giger, Urs

Publication type:

Article