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Results: 1 to 20 of 223

1.

A Deletion in the VLDLR Gene in Eurasier Dogs with Cerebellar Hypoplasia Resembling a Dandy-Walker-Like Malformation (DWLM).

Gerber M, Fischer A, Jagannathan V, Drögemüller M, Drögemüller C, Schmidt MJ, Bernardino F, Manz E, Matiasek K, Rentmeister K, Leeb T.

PLoS One. 2015 Feb 10;10(2):e0108917. doi: 10.1371/journal.pone.0108917. eCollection 2015.

PMID:
25668033
[PubMed - in process]
Free PMC Article
2.

Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.

Tassano E, Jagannathan V, Drögemüller C, Leoni M, Hytönen MK, Severino M, Gimelli S, Cuoco C, Di Rocco M, Sanio K, Groves AK, Leeb T, Gimelli G.

Am J Med Genet A. 2015 Mar;167(3):537-44. doi: 10.1002/ajmg.a.36895. Epub 2015 Feb 5.

PMID:
25655429
[PubMed - in process]
3.

Whole genome sequencing confirms KIT insertions in a white cat.

Frischknecht M, Jagannathan V, Leeb T.

Anim Genet. 2015 Feb;46(1):98. doi: 10.1111/age.12246. Epub 2014 Dec 16. No abstract available.

PMID:
25515300
[PubMed - in process]
4.

The brown coat colour of Coppernecked goats is associated with a non-synonymous variant at the TYRP1 locus on chromosome 8.

Becker D, Otto M, Ammann P, Keller I, Drögemüller C, Leeb T.

Anim Genet. 2015 Feb;46(1):50-4. doi: 10.1111/age.12240. Epub 2014 Nov 13.

PMID:
25392961
[PubMed - in process]
5.

A single codon insertion in the PICALM gene is not associated with subvalvular aortic stenosis in Newfoundland dogs.

Drögemüller M, Jagannathan V, Dolf G, Butenhoff K, Kottmann-Berger S, Wess G, Leeb T.

Hum Genet. 2015 Jan;134(1):127-9. doi: 10.1007/s00439-014-1506-5. Epub 2014 Nov 13. No abstract available.

PMID:
25391634
[PubMed - in process]
6.

Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene.

Drögemüller M, Jagannathan V, Welle MM, Graubner C, Straub R, Gerber V, Burger D, Signer-Hasler H, Poncet PA, Klopfenstein S, von Niederhäusern R, Tetens J, Thaller G, Rieder S, Drögemüller C, Leeb T.

PLoS One. 2014 Oct 8;9(10):e110125. doi: 10.1371/journal.pone.0110125. eCollection 2014.

PMID:
25295861
[PubMed - in process]
Free PMC Article
7.

An ARHGEF10 deletion is highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogs.

Ekenstedt KJ, Becker D, Minor KM, Shelton GD, Patterson EE, Bley T, Oevermann A, Bilzer T, Leeb T, Drögemüller C, Mickelson JR.

PLoS Genet. 2014 Oct 2;10(10):e1004635. doi: 10.1371/journal.pgen.1004635. eCollection 2014 Oct.

PMID:
25275565
[PubMed - in process]
Free PMC Article
8.

Polycystic Kidneys and GM2 Gangliosidosis-Like Disease in Neonatal Springboks (Antidorcas marsupialis).

Herder V, Kummrow M, Leeb T, Sewell AC, Hansmann F, Lehmbecker A, Wohlsein P, Baumgärtner W.

Vet Pathol. 2014 Sep 17. pii: 0300985814549210. [Epub ahead of print]

PMID:
25232033
[PubMed - as supplied by publisher]
9.

Hepatic fungal infection in a young beagle with unrecognised hereditary cobalamin deficiency (Imerslund-Gräsbeck syndrome).

Kook PH, Drögemüller M, Leeb T, Hinden S, Ruetten M, Howard J.

J Small Anim Pract. 2015 Feb;56(2):138-41. doi: 10.1111/jsap.12251. Epub 2014 Aug 8.

PMID:
25131805
[PubMed - in process]
10.

Keratinocyte biology and pathology.

Müller EJ, Galichet A, Wiener D, Marti E, Drögemüller C, Welle M, Roosje P, Leeb T, Suter MM.

Vet Dermatol. 2014 Aug;25(4):236-8. doi: 10.1111/vde.12158. No abstract available.

PMID:
25124172
[PubMed - in process]
11.

DNA testing in neurologic diseases.

O'Brien DP, Leeb T.

J Vet Intern Med. 2014 Jul-Aug;28(4):1186-98. doi: 10.1111/jvim.12383. Epub 2014 Jun 24.

PMID:
24962505
[PubMed - in process]
12.

A mutation in the FAM83G gene in dogs with hereditary footpad hyperkeratosis (HFH).

Drögemüller M, Jagannathan V, Becker D, Drögemüller C, Schelling C, Plassais J, Kaerle C, Dufaure de Citres C, Thomas A, Müller EJ, Welle MM, Roosje P, Leeb T.

PLoS Genet. 2014 May 15;10(5):e1004370. doi: 10.1371/journal.pgen.1004370. eCollection 2014.

PMID:
24832243
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Nucleocytosolic depletion of the energy metabolite acetyl-coenzyme a stimulates autophagy and prolongs lifespan.

Eisenberg T, Schroeder S, Andryushkova A, Pendl T, Küttner V, Bhukel A, Mariño G, Pietrocola F, Harger A, Zimmermann A, Moustafa T, Sprenger A, Jany E, Büttner S, Carmona-Gutierrez D, Ruckenstuhl C, Ring J, Reichelt W, Schimmel K, Leeb T, Moser C, Schatz S, Kamolz LP, Magnes C, Sinner F, Sedej S, Fröhlich KU, Juhasz G, Pieber TR, Dengjel J, Sigrist SJ, Kroemer G, Madeo F.

Cell Metab. 2014 Mar 4;19(3):431-44. doi: 10.1016/j.cmet.2014.02.010.

PMID:
24606900
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Degenerative liver disease in young Beagles with hereditary cobalamin malabsorption because of a mutation in the cubilin gene.

Kook PH, Drögemüller M, Leeb T, Howard J, Ruetten M.

J Vet Intern Med. 2014 Mar-Apr;28(2):666-71. doi: 10.1111/jvim.12295. Epub 2014 Jan 27. No abstract available.

PMID:
24467303
[PubMed - indexed for MEDLINE]
15.

A chromosomal region on ECA13 is associated with maxillary prognathism in horses.

Signer-Hasler H, Neuditschko M, Koch C, Froidevaux S, Flury C, Burger D, Leeb T, Rieder S.

PLoS One. 2014 Jan 21;9(1):e86607. doi: 10.1371/journal.pone.0086607. eCollection 2014.

PMID:
24466169
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.

Towers RE, Murgiano L, Millar DS, Glen E, Topf A, Jagannathan V, Drögemüller C, Goodship JA, Clarke AJ, Leeb T.

PLoS One. 2013 Dec 4;8(12):e81625. doi: 10.1371/journal.pone.0081625. eCollection 2013.

PMID:
24324710
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A variant in MYO10 is associated with hind limb conformation in Swiss Large White boars.

Becker D, Luther H, Hofer A, Leeb T.

Anim Genet. 2014 Apr;45(2):308. doi: 10.1111/age.12111. Epub 2013 Dec 5. No abstract available.

PMID:
24304100
[PubMed - indexed for MEDLINE]
18.

Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse.

Bellone RR, Holl H, Setaluri V, Devi S, Maddodi N, Archer S, Sandmeyer L, Ludwig A, Foerster D, Pruvost M, Reissmann M, Bortfeldt R, Adelson DL, Lim SL, Nelson J, Haase B, Engensteiner M, Leeb T, Forsyth G, Mienaltowski MJ, Mahadevan P, Hofreiter M, Paijmans JL, Gonzalez-Fortes G, Grahn B, Brooks SA.

PLoS One. 2013 Oct 22;8(10):e78280. doi: 10.1371/journal.pone.0078280. eCollection 2013.

PMID:
24167615
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

A frameshift mutation in the cubilin gene (CUBN) in Beagles with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption).

Drögemüller M, Jagannathan V, Howard J, Bruggmann R, Drögemüller C, Ruetten M, Leeb T, Kook PH.

Anim Genet. 2014 Feb;45(1):148-50. doi: 10.1111/age.12094. Epub 2013 Oct 27.

PMID:
24164695
[PubMed - in process]
20.

Accumulating mutations in series of haplotypes at the KIT and MITF loci are major determinants of white markings in Franches-Montagnes horses.

Haase B, Signer-Hasler H, Binns MM, Obexer-Ruff G, Hauswirth R, Bellone RR, Burger D, Rieder S, Wade CM, Leeb T.

PLoS One. 2013 Sep 30;8(9):e75071. doi: 10.1371/journal.pone.0075071. eCollection 2013.

PMID:
24098679
[PubMed - indexed for MEDLINE]
Free PMC Article
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