Rupps R - Search Results

1

A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.

Arbour L, Rezazadeh S, Eldstrom J, Weget-Simms G, Rupps R, Dyer Z, Tibbits G, Accili E, Casey B, Kmetic A, Sanatani S, Fedida D. Arbour L, et al. Among authors: rupps r. Genet Med. 2008 Jul;10(7):545-50. doi: 10.1097/gim.0b013e31817c6b19. Genet Med. 2008. PMID: 18580685

2

Characteristics of primary biliary cirrhosis in British Columbia's First Nations population.

Arbour L, Rupps R, Field L, Ross P, Erikson A, Henderson H, Hill W, Yoshida E. Arbour L, et al. Among authors: rupps r. Can J Gastroenterol. 2005 May;19(5):305-10. doi: 10.1155/2005/203028. Can J Gastroenterol. 2005. PMID: 15915245

3

Recurrent trisomy 21: four cases in three generations.

Gair JL, Arbour L, Rupps R, Jiang R, Bruyère H, Robinson WP. Gair JL, et al. Among authors: rupps r. Clin Genet. 2005 Nov;68(5):430-5. doi: 10.1111/j.1399-0004.2005.00512.x. Clin Genet. 2005. PMID: 16207210

4

Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.

Niederhoffer KY, Peñaherrera M, Pugash D, Rupps R, Arbour L, Tessier F, Choufani S, Zhao C, Manokhina I, Shuman C, Robinson WP, Weksberg R, Boerkoel CF. Niederhoffer KY, et al. Among authors: rupps r. Am J Med Genet A. 2012 Jul;158A(7):1662-9. doi: 10.1002/ajmg.a.35377. Epub 2012 May 21. Am J Med Genet A. 2012. PMID: 22615066

5

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.

Tsang E, Rupps R, McGillivray B, Eydoux P, Marra M, Arbour L, Langlois S, Friedman JM, Zahir FR. Tsang E, et al. Among authors: rupps r. Am J Med Genet A. 2012 Oct;158A(10):2606-9. doi: 10.1002/ajmg.a.35568. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903878

6

Congenital heart defects in Canadian Inuit: is more folic acid making a difference?

Arbour L, Rupps R, MacDonald S, Forth M, Yang J, Nowdluk M, Osborne G. Arbour L, et al. Among authors: rupps r. Alaska Med. 2007;49(2 Suppl):163-6. Alaska Med. 2007. PMID: 17929627

7

Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line.

Bruyère H, Rupps R, Kuchinka BD, Friedman JM, Robinson WP. Bruyère H, et al. Among authors: rupps r. Am J Med Genet. 2000 Sep 4;94(1):35-41. doi: 10.1002/1096-8628(20000904)94:1<35::aid-ajmg8>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10982480

8

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.

Szafranski P, Coban-Akdemir ZH, Rupps R, Grazioli S, Wensley D, Jhangiani SN, Popek E, Lee AF, Lupski JR, Boerkoel CF, Stankiewicz P. Szafranski P, et al. Among authors: rupps r. Am J Med Genet A. 2016 Sep;170(9):2440-4. doi: 10.1002/ajmg.a.37822. Epub 2016 Jul 4. Am J Med Genet A. 2016. PMID: 27374786

9

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D. Jobling R, et al. Among authors: rupps r. J Med Genet. 2018 May;55(5):316-321. doi: 10.1136/jmedgenet-2017-105222. Epub 2018 Mar 29. J Med Genet. 2018. PMID: 29599419

10

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.

Chin HL, O'Neill K, Louie K, Brown L, Schlade-Bartusiak K, Eydoux P, Rupps R, Farahani A, Boerkoel CF, Jones SJM. Chin HL, et al. Among authors: rupps r. Am J Med Genet A. 2021 Aug;185(8):2541-2545. doi: 10.1002/ajmg.a.62349. Epub 2021 May 21. Am J Med Genet A. 2021. PMID: 34018669

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