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Items: 24

1.

Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.

Pater JA, Green J, O'Rielly DD, Griffin A, Squires J, Burt T, Fernandez S, Fernandez B, Houston J, Zhou J, Roslin NM, Young TL.

BMC Med Genet. 2019 May 2;20(1):68. doi: 10.1186/s12881-019-0777-z.

2.

X-Linked Glomerulopathy Due to COL4A5 Founder Variant.

Barua M, John R, Stella L, Li W, Roslin NM, Sharif B, Hack S, Lajoie-Starkell G, Schwaderer AL, Becknell B, Wuttke M, Köttgen A, Cattran D, Paterson AD, Pei Y.

Am J Kidney Dis. 2018 Mar;71(3):441-445. doi: 10.1053/j.ajkd.2017.09.005. Epub 2017 Dec 1. Review.

PMID:
29198386
3.

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.

Evans DR, Green JS, Johnson GJ, Schwartzentruber J, Majewski J, Beaulieu CL, Qin W, Marshall CR, Paton TA, Roslin NM, Paterson AD, Fahiminiya S, French J, Boycott KM, Woods MO; FORGE Canada Consortium.

Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1736-1742. doi: 10.1167/iovs.16-20864.

PMID:
28324114
4.

Single nucleotide polymorphism in IL1B is associated with infection risk in paediatric acute myeloid leukaemia.

Sung L, Dix D, Cellot S, Gillmeister B, Ethier MC, Roslin NM, Johnston DL, Feusner J, Mitchell D, Lewis V, Aplenc R, Yanofsky R, Portwine C, Price V, Zelcer S, Silva M, Bowes L, Michon B, Stobart K, Traubici J, Allen U, Beyene J, den Hollander N, Paterson AD.

Clin Microbiol Infect. 2016 Jun;22(6):563.e9-563.e17. doi: 10.1016/j.cmi.2016.02.006. Epub 2016 Feb 27.

5.

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.

Hwang YH, Conklin J, Chan W, Roslin NM, Liu J, He N, Wang K, Sundsbak JL, Heyer CM, Haider M, Paterson AD, Harris PC, Pei Y.

J Am Soc Nephrol. 2016 Jun;27(6):1861-8. doi: 10.1681/ASN.2015060648. Epub 2015 Oct 9.

6.

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G.

Brain. 2015 Jun;138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25.

7.

OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.

Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR; FORGE Canada Consortium, Héon E.

J Med Genet. 2014 Dec;51(12):797-805. doi: 10.1136/jmedgenet-2014-102620. Epub 2014 Oct 7.

PMID:
25293953
8.

Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.

Greenway SC, McLeod R, Hume S, Roslin NM, Alvarez N, Giuffre M, Zhan SH, Shen Y, Preuss C, Andelfinger G; FORGE Canada Consortium, Jones SJ, Gerull B.

Can J Cardiol. 2014 Feb;30(2):181-7. doi: 10.1016/j.cjca.2013.12.003. Epub 2013 Dec 6.

PMID:
24461919
9.

Successful identification of rare variants using oligogenic segregation analysis as a prioritizing tool for whole-exome sequencing studies.

Gagnon F, Roslin NM, Lemire M.

BMC Proc. 2011 Nov 29;5 Suppl 9:S11. doi: 10.1186/1753-6561-5-S9-S11.

10.

High resolution mapping in the major histocompatibility complex region identifies multiple independent novel loci for psoriatic arthritis.

Rahman P, Roslin NM, Pellett FJ, Lemire M, Greenwood CM, Beyene J, Pope A, Peddle L, Paterson AD, Uddin M, Gladman DD.

Ann Rheum Dis. 2011 Apr;70(4):690-4. doi: 10.1136/ard.2010.133561. Epub 2011 Jan 17.

PMID:
21242233
11.

Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.

Mrkonjic M, Roslin NM, Greenwood CM, Raptis S, Pollett A, Laird PW, Pethe VV, Chiang T, Daftary D, Dicks E, Thibodeau SN, Gallinger S, Parfrey PS, Younghusband HB, Potter JD, Hudson TJ, McLaughlin JR, Green RC, Zanke BW, Newcomb PA, Paterson AD, Bapat B.

PLoS One. 2010 Oct 13;5(10):e13314. doi: 10.1371/journal.pone.0013314.

12.
13.

Genome-wide association analysis of cardiovascular-related quantitative traits in the Framingham Heart Study.

Roslin NM, Hamid JS, Paterson AD, Beyene J.

BMC Proc. 2009 Dec 15;3 Suppl 7:S117.

14.

TNF-alpha-308 G/A polymorphism and responsiveness to TNF-alpha blockade therapy in moderate to severe rheumatoid arthritis: a systematic review and meta-analysis.

O'Rielly DD, Roslin NM, Beyene J, Pope A, Rahman P.

Pharmacogenomics J. 2009 Jun;9(3):161-7. doi: 10.1038/tpj.2009.7. Epub 2009 Apr 14. Review.

PMID:
19365401
15.

Data integration in genetics and genomics: methods and challenges.

Hamid JS, Hu P, Roslin NM, Ling V, Greenwood CM, Beyene J.

Hum Genomics Proteomics. 2009 Jan 12;2009. pii: 869093. doi: 10.4061/2009/869093.

16.

Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population.

Engert JC, Lemire M, Faith J, Brisson D, Fujiwara TM, Roslin NM, Brewer CG, Montpetit A, Darmond-Zwaig C, Renaud Y, Doré C, Bailey SD, Verner A, Tremblay G, St-Pierre J, Bétard C, Platko J, Rioux JD, Morgan K, Hudson TJ, Gaudet D.

Eur J Hum Genet. 2008 Jan;16(1):105-14. Epub 2007 Sep 5.

17.

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV.

Am J Hum Genet. 2006 Nov;79(5):807-19. Epub 2006 Sep 8.

18.

SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.

Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H.

Am J Hum Genet. 2006 Feb;78(2):179-92. Epub 2005 Dec 9.

19.

Segregation of urine calcium excretion in families ascertained for nephrolithiasis: evidence for a major gene.

Loredo-Osti JC, Roslin NM, Tessier J, Fujiwara TM, Morgan K, Bonnardeaux A.

Kidney Int. 2005 Sep;68(3):966-71.

20.

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.

Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K.

Hum Mutat. 2005 Jan;25(1):38-44.

PMID:
15580560
21.

A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3.

Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, Zelinski T.

Am J Med Genet A. 2005 Jan 15;132A(2):136-43.

PMID:
15578624
22.

Transmission-ratio distortion and allele sharing in affected sib pairs: a new linkage statistic with reduced bias, with application to chromosome 6q25.3.

Lemire M, Roslin NM, Laprise C, Hudson TJ, Morgan K.

Am J Hum Genet. 2004 Oct;75(4):571-86. Epub 2004 Aug 20.

23.

Pedigree selection and tests of linkage in a Hutterite asthma pedigree.

Greenwood CM, Bureau A, Loredo-Osti JC, Roslin NM, Crumley MJ, Brewer CG, Fujiwara TM, Goldstein DR, Morgan K.

Genet Epidemiol. 2001;21 Suppl 1:S244-51.

PMID:
11793677
24.

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Bétard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM.

Am J Hum Genet. 2001 Apr;68(4):1048-54. Epub 2001 Mar 15.

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