Jacinto JGP - Search Results

1

CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle.

Häfliger IM, Marchionatti E, Stengård M, Wolf-Hofstetter S, Paris JM, Jacinto JGP, Watté C, Voelter K, Occelli LM, Komáromy AM, Oevermann A, Goepfert C, Borgo A, Roduit R, Spengeler M, Seefried FR, Drögemüller C. Häfliger IM, et al. Among authors: jacinto jgp. Int J Mol Sci. 2021 Nov 18;22(22):12440. doi: 10.3390/ijms222212440. Int J Mol Sci. 2021. PMID: 34830323 Free PMC article.

2

A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex.

Jacinto JGP, Häfliger IM, Veiga IMB, Drögemüller C, Agerholm JS. Jacinto JGP, et al. J Vet Intern Med. 2020 Nov;34(6):2800-2807. doi: 10.1111/jvim.15943. Epub 2020 Nov 2. J Vet Intern Med. 2020. PMID: 33135329 Free PMC article.

3

A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers-Danlos Syndrome.

Jacinto JGP, Häfliger IM, Veiga IMB, Letko A, Benazzi C, Bolcato M, Drögemüller C. Jacinto JGP, et al. Animals (Basel). 2020 Oct 30;10(11):2002. doi: 10.3390/ani10112002. Animals (Basel). 2020. PMID: 33143196 Free PMC article.

4

A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis.

Jacinto JGP, Häfliger IM, Gentile A, Drögemüller C, Bolcato M. Jacinto JGP, et al. Anim Genet. 2021 Apr;52(2):244-245. doi: 10.1111/age.13033. Epub 2020 Dec 14. Anim Genet. 2021. PMID: 33316082 No abstract available.

5

Clinicopathological and Genomic Characterization of a Simmental Calf with Generalized Bovine Juvenile Angiomatosis.

Jacinto JGP, Häfliger IM, Borel N, Zanolari P, Drögemüller C, Veiga IMB. Jacinto JGP, et al. Animals (Basel). 2021 Feb 26;11(3):624. doi: 10.3390/ani11030624. Animals (Basel). 2021. PMID: 33652974 Free PMC article.

6

A De Novo Mutation in COL1A1 in a Holstein Calf with Osteogenesis Imperfecta Type II.

Jacinto JGP, Häfliger IM, McEvoy FJ, Drögemüller C, Agerholm JS. Jacinto JGP, et al. Animals (Basel). 2021 Feb 20;11(2):561. doi: 10.3390/ani11020561. Animals (Basel). 2021. PMID: 33672767 Free PMC article.

7

A Nonsense Variant in Hephaestin Like 1 (HEPHL1) Is Responsible for Congenital Hypotrichosis in Belted Galloway Cattle.

Kuca T, Marron BM, Jacinto JGP, Paris JM, Gerspach C, Beever JE, Drögemüller C. Kuca T, et al. Among authors: jacinto jgp. Genes (Basel). 2021 Apr 26;12(5):643. doi: 10.3390/genes12050643. Genes (Basel). 2021. PMID: 33926013 Free PMC article.

8

A Heterozygous Missense Variant in MAP2K2 in a Stillborn Romagnola Calf with Skeletal-Cardio-Enteric Dysplasia.

Jacinto JGP, Häfliger IM, Gentile A, Drögemüller C. Jacinto JGP, et al. Animals (Basel). 2021 Jun 29;11(7):1931. doi: 10.3390/ani11071931. Animals (Basel). 2021. PMID: 34209498 Free PMC article.

9

A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle.

Jacinto JGP, Markey AD, Veiga IMB, Paris JM, Welle M, Beever JE, Drögemüller C. Jacinto JGP, et al. Genes (Basel). 2021 Jul 4;12(7):1038. doi: 10.3390/genes12071038. Genes (Basel). 2021. PMID: 34356054 Free PMC article.

10

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. 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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

34 results

Search Page