Paris JM - Search Results

1

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. Among authors: paris jm. Genes (Basel). 2021 Jul 4;12(7):1038. doi: 10.3390/genes12071038. Genes (Basel). 2021. PMID: 34356054 Free PMC article.

2

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: paris jm. Genes (Basel). 2021 Apr 26;12(5):643. doi: 10.3390/genes12050643. Genes (Basel). 2021. PMID: 33926013 Free PMC article.

3

Deleterious AGXT Missense Variant Associated with Type 1 Primary Hyperoxaluria (PH1) in Zwartbles Sheep.

Letko A, Dijkman R, Strugnell B, Häfliger IM, Paris JM, Henderson K, Geraghty T, Orr H, Scholes S, Drögemüller C. Letko A, et al. Among authors: paris jm. Genes (Basel). 2020 Sep 29;11(10):1147. doi: 10.3390/genes11101147. Genes (Basel). 2020. PMID: 33003365 Free PMC article.

4

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: paris jm. Int J Mol Sci. 2021 Nov 18;22(22):12440. doi: 10.3390/ijms222212440. Int J Mol Sci. 2021. PMID: 34830323 Free PMC article.

5

Is a heterozygous missense variant in SGSH the cause of a syndromic form of congenital amastia in an Original Braunvieh calf?

Jacinto JGP, Häfliger IM, Christen M, Paris JM, Seefried FR, Drögemüller C. Jacinto JGP, et al. Among authors: paris jm. Anim Genet. 2022 Aug;53(4):530-531. doi: 10.1111/age.13207. Epub 2022 May 9. Anim Genet. 2022. PMID: 35535008 Free article. No abstract available.

6

Identification of two TYRP1 loss-of-function alleles in Valais Red sheep.

Paris JM, Letko A, Häfliger IM, Ammann P, Flury C, Drögemüller C. Paris JM, et al. Anim Genet. 2019 Dec;50(6):778-782. doi: 10.1111/age.12863. Epub 2019 Oct 1. Anim Genet. 2019. PMID: 31571241

7

Ear type in sheep is associated with the MSRB3 locus.

Paris JM, Letko A, Häfliger IM, Ammann P, Drögemüller C. Paris JM, et al. Anim Genet. 2020 Dec;51(6):968-972. doi: 10.1111/age.12994. Epub 2020 Aug 17. Anim Genet. 2020. PMID: 32805068

8

A de novo germline mutation of KIT in a white-spotted Brown Swiss cow.

Häfliger IM, Hirter N, Paris JM, Wolf Hofstetter S, Seefried FR, Drögemüller C. Häfliger IM, et al. Among authors: paris jm. Anim Genet. 2020 Jun;51(3):449-452. doi: 10.1111/age.12920. Epub 2020 Feb 17. Anim Genet. 2020. PMID: 32065668

9

Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy.

Letko A, Strugnell B, Häfliger IM, Paris JM, Waine K, Drögemüller C, Scholes S. Letko A, et al. Among authors: paris jm. Mol Genet Genomics. 2021 Jan;296(1):235-242. doi: 10.1007/s00438-020-01742-1. Epub 2020 Nov 6. Mol Genet Genomics. 2021. PMID: 33159255 Free PMC article.

10

A de novo variant in OTX2 in a lamb with otocephaly.

Paris JM, Letko A, Häfliger IM, Švara T, Gombač M, Klinc P, Škibin A, Pogorevc E, Drögemüller C. Paris JM, et al. Acta Vet Scand. 2020 Jan 22;62(1):5. doi: 10.1186/s13028-020-0503-z. Acta Vet Scand. 2020. PMID: 31969185 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

66 results

Search Page