MacDonald IM - Search Results

1

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Piherová L, Kuchař L, Baxová A, Chen R, Barsottini OG, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie JL, Sampson JR, Chinnery P; Care4Rare Canada; Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso JL, Kretzschmar D, Cayouette M, Koenekoop RK. Kmoch S, et al. Among authors: macdonald im. Nat Commun. 2015 Jan 9;6:5614. doi: 10.1038/ncomms6614. Nat Commun. 2015. PMID: 25574898 Free PMC article.

2

Mycophenolate mofetil dose reduction and the risk of acute rejection after renal transplantation.

Knoll GA, MacDonald I, Khan A, Van Walraven C. Knoll GA, et al. J Am Soc Nephrol. 2003 Sep;14(9):2381-6. doi: 10.1097/01.asn.0000079616.71891.f5. J Am Soc Nephrol. 2003. PMID: 12937317

3

A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.

Innes AM, Boycott KM, Puffenberger EG, Redl D, MacDonald IM, Chudley AE, Beaulieu C, Perrier R, Gillan T, Wade A, Parboosingh JS. Innes AM, et al. Among authors: macdonald im. Clin Genet. 2010 Nov;78(5):424-31. doi: 10.1111/j.1399-0004.2010.01481.x. Clin Genet. 2010. PMID: 20618352

4

Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation.

Hunter AG, Jacob P, O'Hoy K, MacDonald I, Mettler G, Tsilfidis C, Korneluk RG. Hunter AG, et al. Am J Med Genet. 1993 Feb 1;45(3):401-7. doi: 10.1002/ajmg.1320450330. Am J Med Genet. 1993. PMID: 8434633

5

Use of the polymerase chain reaction for the differential cross screening of libraries cloned into phage-lambda-based vectors.

Wong P, MacDonald I, Tenniswood M. Wong P, et al. Gene. 1989 Dec 21;85(1):59-65. doi: 10.1016/0378-1119(89)90464-2. Gene. 1989. PMID: 2482827

6

Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course.

Hunter AG, Jimenez CL, Carpenter BF, MacDonald I. Hunter AG, et al. Am J Med Genet. 1987 Sep;28(1):171-80. doi: 10.1002/ajmg.1320280124. Am J Med Genet. 1987. PMID: 3314508 Review.

7

Factors associated with publication following presentation at a transplantation meeting.

Glick N, MacDonald I, Knoll G, Brabant A, Gourishankar S. Glick N, et al. Am J Transplant. 2006 Mar;6(3):552-6. doi: 10.1111/j.1600-6143.2005.01203.x. Am J Transplant. 2006. PMID: 16468965 Free article.

8

Tele-ophthalmology via stereoscopic digital imaging: a pilot project.

Tennant MT, Rudnisky CJ, Hinz BJ, MacDonald IM, Greve MD. Tennant MT, et al. Among authors: macdonald im. Diabetes Technol Ther. 2000 Winter;2(4):583-7. doi: 10.1089/15209150050502005. Diabetes Technol Ther. 2000. PMID: 11469622

9

Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons.

Parnes S, Hunter AG, Jimenez C, Carpenter BF, MacDonald I. Parnes S, et al. Am J Med Genet. 1990 Mar;35(3):397-405. doi: 10.1002/ajmg.1320350317. Am J Med Genet. 1990. PMID: 2309789

10

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

Vooren EV, den Broeck FV, Mahieu Q, Geens E, Heetvelde MV, De Bruyne M, de Sompele SV, Uppal S, Poliakov E, Dhaenens CM, Gregory-Evans CY, Hoefsloot L, Gonzalez AI, Kohl S, Zuleger T, Demaret T; Dominant RPE65-p.(E519K) Consortium; Tuupanen S, Ruys J, Os LV, Platteau E, Jacob J, Vermeer S, Postelmans L, Dahan K, Maystadt I, Rasquin F, Thiadens AAHJ, Stephenson KAJ, Sheri N, Smirnov V, MacDonald IM, Gregory-Evans K, Redmond TM, De Zaeytijd J, Leroy BP, Bauwens M, De Baere E. Vooren EV, et al. Among authors: macdonald im. Res Sq [Preprint]. 2025 May 5:rs.3.rs-5849564. doi: 10.21203/rs.3.rs-5849564/v2. Res Sq. 2025. PMID: 40386434 Free PMC article. Preprint.

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