Giger U - Search Results

1

Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.

Inal-Gültekin G, Toptaş-Hekimoğlu B, Görmez Z, Gelişin Ö, Durmuş H, Ergüner B, Demirci H, Sağıroğlu MŞ, Parman Y, Deymeer F, Yılmaz-Aydoğan H, Pençe S, Bekircan-Kurt CE, Tan E, Erdem-Özdamar S, Üstek D, Giger U, Öztürk O, Serdaroğlu-Oflazer P. Inal-Gültekin G, et al. Among authors: giger u. Neuromuscul Disord. 2017 Nov;27(11):997-1008. doi: 10.1016/j.nmd.2017.06.004. Epub 2017 Jun 16. Neuromuscul Disord. 2017. PMID: 28967462 Free PMC article.

2

Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog.

Inal Gultekin G, Raj K, Lehman S, Hillström A, Giger U. Inal Gultekin G, et al. Among authors: giger u. Mol Cell Probes. 2012 Dec;26(6):243-7. doi: 10.1016/j.mcp.2012.02.004. Epub 2012 Mar 16. Mol Cell Probes. 2012. PMID: 22446493 Free PMC article.

3

Feline cystinuria caused by a missense mutation in the SLC3A1 gene.

Mizukami K, Raj K, Giger U. Mizukami K, et al. Among authors: giger u. J Vet Intern Med. 2015 Jan;29(1):120-5. doi: 10.1111/jvim.12501. Epub 2014 Nov 24. J Vet Intern Med. 2015. PMID: 25417848 Free PMC article.

4

A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease).

Wang P, Mazrier H, Caverly Rae J, Raj K, Giger U. Wang P, et al. Among authors: giger u. BMC Vet Res. 2018 Dec 27;14(1):416. doi: 10.1186/s12917-018-1728-1. BMC Vet Res. 2018. PMID: 30591066 Free PMC article.

5

Molecular basis of canine muscle type phosphofructokinase deficiency.

Smith BF, Stedman H, Rajpurohit Y, Henthorn PS, Wolfe JH, Patterson DF, Giger U. Smith BF, et al. Among authors: giger u. J Biol Chem. 1996 Aug 16;271(33):20070-4. doi: 10.1074/jbc.271.33.20070. J Biol Chem. 1996. PMID: 8702726 Free article.

6

SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.

Brons AK, Henthorn PS, Raj K, Fitzgerald CA, Liu J, Sewell AC, Giger U. Brons AK, et al. Among authors: giger u. J Vet Intern Med. 2013 Nov-Dec;27(6):1400-8. doi: 10.1111/jvim.12176. Epub 2013 Sep 3. J Vet Intern Med. 2013. PMID: 24001348 Free PMC article.

7

ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.

Raj K, Berman-Booty L, Foureman P, Giger U. Raj K, et al. Among authors: giger u. Anim Genet. 2020 Dec;51(6):982-986. doi: 10.1111/age.13005. Epub 2020 Sep 28. Anim Genet. 2020. PMID: 32985704 Free PMC article.

8

Canine leukocyte adhesion deficiency: presence of the Cys36Ser beta-2 integrin mutation in an affected US Irish Setter cross-breed dog and in US Irish Red and White Setters.

Foureman P, Whiteley M, Giger U. Foureman P, et al. Among authors: giger u. J Vet Intern Med. 2002 Sep-Oct;16(5):518-23. doi: 10.1892/0891-6640(2002)016<0518:cladpo>2.3.co;2. J Vet Intern Med. 2002. PMID: 12322699 Free article.

9

Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency.

Skelly BJ, Wallace M, Rajpurohit YR, Wang P, Giger U. Skelly BJ, et al. Among authors: giger u. Am J Vet Res. 1999 Sep;60(9):1169-72. Am J Vet Res. 1999. PMID: 10490091

10

A web resource on DNA tests for canine and feline hereditary diseases.

Slutsky J, Raj K, Yuhnke S, Bell J, Fretwell N, Hedhammar A, Wade C, Giger U. Slutsky J, et al. Among authors: giger u. Vet J. 2013 Aug;197(2):182-7. doi: 10.1016/j.tvjl.2013.02.021. Epub 2013 Apr 11. Vet J. 2013. PMID: 23582432 Free PMC article.

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