Gentile A - Search Results

1

A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.

Jacinto JGP, Häfliger IM, Veiga IMB, Letko A, Gentile A, Drögemüller C. Jacinto JGP, et al. Among authors: gentile a. Mol Genet Genomics. 2021 Nov;296(6):1313-1322. doi: 10.1007/s00438-021-01824-8. Epub 2021 Oct 2. Mol Genet Genomics. 2021. PMID: 34599683 Free PMC article.

2

Ichthyosis in two Chianina calves.

Testoni S, Zappulli V, Gentile A. Testoni S, et al. Among authors: gentile a. Dtsch Tierarztl Wochenschr. 2006 Sep;113(9):351-4. Dtsch Tierarztl Wochenschr. 2006. PMID: 17009813

3

Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4).

Drögemüller C, Leeb T, Harlizius B, Tammen I, Distl O, Höltershinken M, Gentile A, Duchesne A, Eggen A. Drögemüller C, et al. Among authors: gentile a. BMC Genet. 2007 Feb 23;8:5. doi: 10.1186/1471-2156-8-5. BMC Genet. 2007. PMID: 17319939 Free PMC article.

4

Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.

Drögemüller C, Drögemüller M, Leeb T, Mascarello F, Testoni S, Rossi M, Gentile A, Damiani E, Sacchetto R. Drögemüller C, et al. Among authors: gentile a. Genomics. 2008 Dec;92(6):474-7. doi: 10.1016/j.ygeno.2008.07.014. Epub 2008 Sep 25. Genomics. 2008. PMID: 18786632 Free article.

5

A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle.

Sacchetto R, Testoni S, Gentile A, Damiani E, Rossi M, Liguori R, Drögemüller C, Mascarello F. Sacchetto R, et al. Among authors: gentile a. Am J Pathol. 2009 Feb;174(2):565-73. doi: 10.2353/ajpath.2009.080659. Epub 2008 Dec 30. Am J Pathol. 2009. PMID: 19116366 Free PMC article.

6

Arachnomelia in Brown Swiss cattle maps to chromosome 5.

Drögemüller C, Rossi M, Gentile A, Testoni S, Jörg H, Stranzinger G, Drögemüller M, Glowatzki-Mullis ML, Leeb T. Drögemüller C, et al. Among authors: gentile a. Mamm Genome. 2009 Jan;20(1):53-9. doi: 10.1007/s00335-008-9157-2. Epub 2008 Dec 31. Mamm Genome. 2009. PMID: 19116736

7

Identification of the bovine Arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development.

Drögemüller C, Tetens J, Sigurdsson S, Gentile A, Testoni S, Lindblad-Toh K, Leeb T. Drögemüller C, et al. Among authors: gentile a. PLoS Genet. 2010 Aug 26;6(8):e1001079. doi: 10.1371/journal.pgen.1001079. PLoS Genet. 2010. PMID: 20865119 Free PMC article.

8

Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations.

Testoni S, Mazzariol S, Drögemüller C, Piffer C, Aresu L, Gentile A. Testoni S, et al. Among authors: gentile a. Vet Rec. 2012 Jan 7;170(1):22. doi: 10.1136/vr.100209. Epub 2011 Oct 21. Vet Rec. 2012. PMID: 22021062 No abstract available.

9

Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires.

Murgiano L, Testoni S, Drögemüller C, Bolcato M, Gentile A. Murgiano L, et al. Among authors: gentile a. Vet J. 2013 Feb;195(2):238-40. doi: 10.1016/j.tvjl.2012.04.021. Epub 2012 May 22. Vet J. 2013. PMID: 22627047

10

KDM2B is implicated in bovine lethal multi-organic developmental dysplasia.

Testoni S, Bartolone E, Rossi M, Patrignani A, Bruggmann R, Lichtner P, Tetens J, Gentile A, Drögemüller C. Testoni S, et al. Among authors: gentile a. PLoS One. 2012;7(9):e45634. doi: 10.1371/journal.pone.0045634. Epub 2012 Sep 27. PLoS One. 2012. PMID: 23029151 Free PMC article.

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