Ferrier RA - Search Results

1

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Brodehl A, Ferrier RA, Hamilton SJ, Greenway SC, Brundler MA, Yu W, Gibson WT, McKinnon ML, McGillivray B, Alvarez N, Giuffre M, Schwartzentruber J; FORGE Canada Consortium; Gerull B. Brodehl A, et al. Among authors: ferrier ra. Hum Mutat. 2016 Mar;37(3):269-79. doi: 10.1002/humu.22942. Epub 2016 Jan 8. Hum Mutat. 2016. PMID: 26666891

2

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy.

Brodehl A, Rezazadeh S, Williams T, Munsie NM, Liedtke D, Oh T, Ferrier R, Shen Y, Jones SJM, Stiegler AL, Boggon TJ, Duff HJ, Friedman JM, Gibson WT; FORGE Canada Consortium; Childs SJ, Gerull B. Brodehl A, et al. Transl Res. 2019 Jun;208:15-29. doi: 10.1016/j.trsl.2019.02.004. Epub 2019 Feb 15. Transl Res. 2019. PMID: 30802431 Free PMC article.

3

Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome.

Rezazadeh S, Guo J, Duff HJ, Ferrier RA, Gerull B. Rezazadeh S, et al. Among authors: ferrier ra. Can J Cardiol. 2016 Dec;32(12):1576.e15-1576.e18. doi: 10.1016/j.cjca.2016.07.587. Epub 2016 Jul 27. Can J Cardiol. 2016. PMID: 27789106

4

Early Death of 2 Siblings Related to Mutations in LMOD2, a Recently Discovered Cause of Neonatal Dilated Cardiomyopathy.

Greenway SC, Fruitman D, Ferrier R, Huculak C, Marcadier J, Sergi C, Bernier FP. Greenway SC, et al. CJC Open. 2021 Aug 1;3(10):1300-1302. doi: 10.1016/j.cjco.2021.07.017. eCollection 2021 Oct. CJC Open. 2021. PMID: 34888509 Free PMC article.

5

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group. Prattichizzo C, et al. Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792. Hum Mutat. 2008. PMID: 18546297

6

Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations.

Goebl A, Ferrier RA, Ferreira P, Pinto-Rojas A, Matshes E, Choy FY. Goebl A, et al. Among authors: ferrier ra. Pediatr Dev Pathol. 2011 May-Jun;14(3):240-3. doi: 10.2350/09-11-0744-CR.1. Epub 2010 Oct 14. Pediatr Dev Pathol. 2011. PMID: 20946052

7

Father-to-son transmission of an X-linked gene: a case of paternal sex chromosome heterodisomy.

Ferrier RA, Lowry RB, Lemire EG, Stoeber GP, Howard J, Parboosingh JS. Ferrier RA, et al. Am J Med Genet A. 2009 Dec;149A(12):2871-3. doi: 10.1002/ajmg.a.32994. Am J Med Genet A. 2009. PMID: 19921643 No abstract available.

8

IMPACT webinars: Improving Patient Access to genetic Counselling and Testing using webinars-the Alberta experience with hypertrophic cardiomyopathy.

Christian S, Tagoe J, Delday L, Bernier FP, Kohut R, Ferrier R. Christian S, et al. J Community Genet. 2022 Feb;13(1):81-89. doi: 10.1007/s12687-021-00564-x. Epub 2021 Nov 11. J Community Genet. 2022. PMID: 34766249 Free PMC article.

9

[No title available]

[No authors listed] [No authors listed] PMID: 34786028

10

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group. Del Giudice E, et al. Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74. Orphanet J Rare Dis. 2014. PMID: 24884629 Free PMC article.

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