Giger U - Search Results

1

A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis.

Awano T, Katz ML, O'Brien DP, Sohar I, Lobel P, Coates JR, Khan S, Johnson GC, Giger U, Johnson GS. Awano T, et al. Among authors: giger u. Mol Genet Metab. 2006 Nov;89(3):254-60. doi: 10.1016/j.ymgme.2006.02.016. Epub 2006 Apr 18. Mol Genet Metab. 2006. PMID: 16621647

2

A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats.

Fyfe JC, Kurzhals RL, Hawkins MG, Wang P, Yuhki N, Giger U, Van Winkle TJ, Haskins ME, Patterson DF, Henthorn PS. Fyfe JC, et al. Among authors: giger u. Mol Genet Metab. 2007 Apr;90(4):383-92. doi: 10.1016/j.ymgme.2006.12.003. Epub 2007 Jan 25. Mol Genet Metab. 2007. PMID: 17257876 Free PMC article.

3

Long-term Treatment with Methylene Blue in a Dog with Hereditary Methemoglobinemia Caused by Cytochrome b5 Reductase Deficiency.

Jaffey JA, Harmon MR, Villani NA, Creighton EK, Johnson GS, Giger U, Dodam JR. Jaffey JA, et al. Among authors: giger u. J Vet Intern Med. 2017 Nov;31(6):1860-1865. doi: 10.1111/jvim.14843. Epub 2017 Sep 29. J Vet Intern Med. 2017. PMID: 28963729 Free PMC article.

4

Hereditary β-mannosidosis in a dog: Clinicopathological and molecular genetic characterization.

Bolfa P, Wang P, Nair R, Rajeev S, Armien AG, Henthorn PS, Wood T, Thrall MA, Giger U. Bolfa P, et al. Among authors: giger u. Mol Genet Metab. 2019 Sep-Oct;128(1-2):137-143. doi: 10.1016/j.ymgme.2019.08.002. Epub 2019 Aug 10. Mol Genet Metab. 2019. PMID: 31439511 Free PMC article.

5

Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b₅ reductase deficiency in 30 dogs.

Jaffey JA, Reading NS, Abdulmalik O, Kreisler R, Bullock G, Wiest A, Villani NA, Mhlanga-Mutangadura T, Johnson GS, Cohn LA, Isaza N, Harvey JW, Giger U. Jaffey JA, et al. Among authors: giger u. Sci Rep. 2020 Dec 8;10(1):21399. doi: 10.1038/s41598-020-78391-2. Sci Rep. 2020. PMID: 33293645 Free PMC article.

6

Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).

Fischer A, Carmichael KP, Munnell JF, Jhabvala P, Thompson JN, Matalon R, Jezyk PF, Wang P, Giger U. Fischer A, et al. Among authors: giger u. Pediatr Res. 1998 Jul;44(1):74-82. doi: 10.1203/00006450-199807000-00012. Pediatr Res. 1998. PMID: 9667374

7

Mucopolysaccharidosis type VII in a German Shepherd Dog.

Silverstein Dombrowski DC, Carmichael KP, Wang P, O'Malley TM, Haskins ME, Giger U. Silverstein Dombrowski DC, et al. Among authors: giger u. J Am Vet Med Assoc. 2004 Feb 15;224(4):553-7, 532-3. doi: 10.2460/javma.2004.224.553. J Am Vet Med Assoc. 2004. PMID: 14989549 Free article.

8

An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs.

Fyfe JC, Hemker SL, Venta PJ, Fitzgerald CA, Outerbridge CA, Myers SL, Giger U. Fyfe JC, et al. Among authors: giger u. Mol Genet Metab. 2013 Aug;109(4):390-6. doi: 10.1016/j.ymgme.2013.05.006. Epub 2013 May 22. Mol Genet Metab. 2013. PMID: 23746554 Free PMC article.

9

Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs.

Henthorn PS, Liu J, Gidalevich T, Fang J, Casal ML, Patterson DF, Giger U. Henthorn PS, et al. Among authors: giger u. Hum Genet. 2000 Oct;107(4):295-303. doi: 10.1007/s004390000392. Hum Genet. 2000. PMID: 11129328

10

Animal models for mucopolysaccharidoses and their clinical relevance.

Haskins M, Casal M, Ellinwood NM, Melniczek J, Mazrier H, Giger U. Haskins M, et al. Among authors: giger u. Acta Paediatr Suppl. 2002;91(439):88-97. doi: 10.1111/j.1651-2227.2002.tb03117.x. Acta Paediatr Suppl. 2002. PMID: 12572849 Review.

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