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Items: 1 to 20 of 328


Correction: Mutations in MITF and PAX3 Cause "Splashed White" and Other White Spotting Phenotypes in Horses.

Hauswirth R, Haase B, Blatter M, Brooks SA, Burger D, Drögemüller C, Gerber V, Henke D, Janda J, Jude R, Magdesian KG, Matthews JM, Poncet PA, Svansson V, Tozaki T, Wilkinson-White L, Penedo MCT, Rieder S, Leeb T.

PLoS Genet. 2019 Aug 2;15(8):e1008321. doi: 10.1371/journal.pgen.1008321. eCollection 2019 Aug.


Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome.

Bauer A, de Lucia M, Leuthard F, Jagannathan V, Leeb T.

Anim Genet. 2019 Jul 31. doi: 10.1111/age.12830. [Epub ahead of print]


AKNA Frameshift Variant in Three Dogs with Recurrent Inflammatory Pulmonary Disease.

Hug P, Anderegg L, Kehl A, Jagannathan V, Leeb T.

Genes (Basel). 2019 Jul 26;10(8). pii: E567. doi: 10.3390/genes10080567.


A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern.

Küttel L, Letko A, Häfliger IM, Signer-Hasler H, Joller S, Hirsbrunner G, Mészáros G, Sölkner J, Flury C, Leeb T, Drögemüller C.

Anim Genet. 2019 Jul 11. doi: 10.1111/age.12821. [Epub ahead of print]


A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations.

Hug P, Anderegg L, Dürig N, Lepori V, Jagannathan V, Spiess B, Richter M, Leeb T.

Genes (Basel). 2019 Jun 14;10(6). pii: E454. doi: 10.3390/genes10060454.


Phenotypic Effects of FGF4 Retrogenes on Intervertebral Disc Disease in Dogs.

Batcher K, Dickinson P, Giuffrida M, Sturges B, Vernau K, Knipe M, Rasouliha SH, Drögemüller C, Leeb T, Maciejczyk K, Jenkins CA, Mellersh C, Bannasch D.

Genes (Basel). 2019 Jun 7;10(6). pii: E435. doi: 10.3390/genes10060435.


Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs.

Hédan B, Cadieu E, Botherel N, Dufaure de Citres C, Letko A, Rimbault M, Drögemüller C, Jagannathan V, Derrien T, Schmutz S, Leeb T, André C.

Genes (Basel). 2019 May 21;10(5). pii: E386. doi: 10.3390/genes10050386.


Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration.

Hitti RJ, Oliver JAC, Schofield EC, Bauer A, Kaukonen M, Forman OP, Leeb T, Lohi H, Burmeister LM, Sargan D, Mellersh CS.

Genes (Basel). 2019 May 21;10(5). pii: E385. doi: 10.3390/genes10050385.


In silico and in vitro analysis of genetic variants of the equine CYP3A94, CYP3A95 and CYP3A97 isoenzymes.

Vimercati S, Elli S, Jagannathan V, Pandey AV, Peduto N, Leeb T, Mevissen M.

Toxicol In Vitro. 2019 May 17;60:116-124. doi: 10.1016/j.tiv.2019.05.011. [Epub ahead of print]


An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome.

Marchant TW, Dietschi E, Rytz U, Schawalder P, Jagannathan V, Hadji Rasouliha S, Gurtner C, Waldvogel AS, Harrington RS, Drögemüller M, Kidd J, Ostrander EA, Warr A, Watson M, Argyle D, Ter Haar G, Clements DN, Leeb T, Schoenebeck JJ.

PLoS Genet. 2019 May 16;15(5):e1008102. doi: 10.1371/journal.pgen.1008102. eCollection 2019 May.


Genome-Wide Association Studies Based on Equine Joint Angle Measurements Reveal New QTL Affecting the Conformation of Horses.

Gmel AI, Druml T, von Niederhäusern R, Leeb T, Neuditschko M.

Genes (Basel). 2019 May 14;10(5). pii: E370. doi: 10.3390/genes10050370.


X-linked cutaneous mosaicism in a dog.

De Lucia M, Angileri M, Bauer A, Spycher M, Jaggannathan V, Denti D, Di Diodoro F, Ferro S, Mezzalira G, Welle M, Leeb T.

Vet Dermatol. 2019 Aug;30(4):361-362. doi: 10.1111/vde.12748. Epub 2019 Apr 22. No abstract available.


The horse Y chromosome as an informative marker for tracing sire lines.

Felkel S, Vogl C, Rigler D, Dobretsberger V, Chowdhary BP, Distl O, Fries R, Jagannathan V, Janečka JE, Leeb T, Lindgren G, McCue M, Metzger J, Neuditschko M, Rattei T, Raudsepp T, Rieder S, Rubin CJ, Schaefer R, Schlötterer C, Thaller G, Tetens J, Velie B, Brem G, Wallner B.

Sci Rep. 2019 Apr 15;9(1):6095. doi: 10.1038/s41598-019-42640-w.


Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: intrafamilial overlap of phenotypes in patients with the same KRT14 frameshift variant.

Burger B, Spoerri I, Imahorn E, Wariwoda H, Leeb T, Itin PH.

Br J Dermatol. 2019 Apr 9. doi: 10.1111/bjd.17997. [Epub ahead of print] No abstract available.


ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis.

Schmutz I, Jagannathan V, Bartenschlager F, Stein VM, Gruber AD, Leeb T, Katz ML.

Mol Genet Metab. 2019 May;127(1):95-106. doi: 10.1016/j.ymgme.2018.11.015. Epub 2019 Mar 27.


Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter.

Brenig B, Steingräber L, Shan S, Xu F, Hirschfeld M, Andag R, Spengeler M, Dietschi E, Mischke R, Leeb T.

Haematologica. 2019 Mar 7. pii: haematol.2018.215426. doi: 10.3324/haematol.2018.215426. [Epub ahead of print]


Bald thigh syndrome in sighthounds-Revisiting the cause of a well-known disease.

Brunner MAT, Rüfenacht S, Bauer A, Erpel S, Buchs N, Braga-Lagache S, Heller M, Leeb T, Jagannathan V, Wiener DJ, Welle MM.

PLoS One. 2019 Feb 22;14(2):e0212645. doi: 10.1371/journal.pone.0212645. eCollection 2019.


Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness.

Henkel J, Lafayette C, Brooks SA, Martin K, Patterson-Rosa L, Cook D, Jagannathan V, Leeb T.

Anim Genet. 2019 Apr;50(2):172-174. doi: 10.1111/age.12762. Epub 2019 Jan 15.


Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration.

Murgiano L, Becker D, Torjman D, Niggel JK, Milano A, Cullen C, Feng R, Wang F, Jagannathan V, Pearce-Kelling S, Katz ML, Leeb T, Aguirre GD.

G3 (Bethesda). 2019 Feb 7;9(2):425-437. doi: 10.1534/g3.118.200859.

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