Works matching IS 03406717 AND DT 2019 AND VI 138 AND IP 5

Results: 13

Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 437, doi. 10.1007/s00439-019-02025-5

By:

Shaffer, Lisa G.

Publication type:

Article

Personalized medicine: going to the dogs?

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 467, doi. 10.1007/s00439-019-02020-w

By:

Mealey, Katrina L.;
Martinez, Stephanie E.;
Villarino, Nicolas F.;
Court, Michael H.

Publication type:

Article

Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 501, doi. 10.1007/s00439-019-02013-9

By:

Shaffer, Lisa G.;
Geretschlaeger, Anja;
Ramirez, Christina J.;
Ballif, Blake C.;
Carl, Casey

Publication type:

Article

Predicting copper toxicosis: relationship between the ATP7A and ATP7B gene mutations and hepatic copper quantification in dogs.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 541, doi. 10.1007/s00439-019-02010-y

By:

Pindar, Sharon;
Ramirez, Christina

Publication type:

Article

A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 535, doi. 10.1007/s00439-019-02005-9

By:

Hytönen, Marjo K.;
Lohi, Hannes

Publication type:

Article

Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 455, doi. 10.1007/s00439-019-02003-x

By:

Correard, Solenne;
Plassais, Jocelyn;
Lagoutte, Laëtitia;
Botherel, Nadine;
Thibaud, Jean-Laurent;
Hédan, Benoît;
Richard, Laurence;
Lia, Anne-Sophie;
Delague, Valérie;
Mège, Catherine;
Mathis, Stéphane;
Guaguère, Eric;
Paradis, Manon;
Vallat, Jean-Michel;
Quignon, Pascale;
André, Catherine

Publication type:

Article

Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 441, doi. 10.1007/s00439-019-01999-6

By:

Bunel, Morgane;
Chaudieu, Gilles;
Hamel, Christian;
Lagoutte, Laetitia;
Manes, Gaël;
Botherel, Nadine;
Brabet, Philippe;
Pilorge, Philippe;
André, Catherine;
Quignon, Pascale

Publication type:

Article

Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 525, doi. 10.1007/s00439-019-01997-8

By:

Hytönen, Marjo K.;
Arumilli, Meharji;
Sarkiala, Eva;
Nieminen, Pekka;
Lohi, Hannes

Publication type:

Article

A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 509, doi. 10.1007/s00439-019-01986-x

By:

Murphy, Sarah C.;
Recio, Alfredo;
de la Fuente, Cristian;
Guo, Ling T.;
Shelton, G. Diane;
Clark, Leigh Anne

Publication type:

Article

Correction to: Gene therapies in canine models for Duchenne muscular dystrophy.

Published in:

2019

By:

Nghiem, Peter P.;
Kornegay, Joe N.

Publication type:

Correction Notice

Gene therapies in canine models for Duchenne muscular dystrophy.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 483, doi. 10.1007/s00439-019-01976-z

By:

Nghiem, Peter P.;
Kornegay, Joe N.

Publication type:

Article

A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 515, doi. 10.1007/s00439-019-01973-2

By:

Meurs, Kathryn M.;
Friedenberg, Steven G.;
Kolb, Justin;
Saripalli, Chandra;
Tonino, Paola;
Woodruff, Kathleen;
Olby, Natasha J.;
Keene, Bruce W.;
Adin, Darcy B.;
Yost, Oriana L.;
DeFrancesco, Teresa C.;
Lahmers, Sunshine;
Tou, Sandra;
Shelton, G. Diane;
Granzier, Henk

Publication type:

Article

Standards and guidelines for canine clinical genetic testing laboratories.

Published in:

Human Genetics, 2019, v. 138, n. 5, p. 493, doi. 10.1007/s00439-018-1954-4

By:

Shaffer, Lisa G.;
Sundin, Kyle;
Geretschlaeger, Anja;
Segert, Julia;
Swinburne, June E.;
Royal, Ramon;
Loechel, Robert;
Ramirez, Christina J.;
Ballif, Blake C.

Publication type:

Article