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Items: 39

1.

A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1.

Duong J, Rideout A, MacKay S, Beis J, Parkash S, Schwarze U, Horne SG, Vandersteen A.

Eur J Med Genet. 2019 Jul 16:103730. doi: 10.1016/j.ejmg.2019.103730. [Epub ahead of print]

PMID:
31323331
2.

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.

Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM.

J Med Genet. 2019 Apr;56(4):252-260. doi: 10.1136/jmedgenet-2018-105583. Epub 2019 Jan 19.

PMID:
30661052
3.

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B.

Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6.

4.

Three-Dimensional Printing: A Novel Approach to the Creation of Obturator Prostheses Following Palatal Resection for Malignant Palate Tumors.

Bartellas M, Tibbo J, Angel D, Rideout A, Gillis J.

J Craniofac Surg. 2018 Jan;29(1):e12-e15. doi: 10.1097/SCS.0000000000003987.

PMID:
28968315
5.

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.

Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB.

Am J Hum Genet. 2016 Aug 4;99(2):521. doi: 10.1016/j.ajhg.2016.07.015. No abstract available.

6.

Health locus of control in patients undergoing coronary artery surgery - changes and associated outcomes: a seven-year cohort study.

Rideout A, Tolmie E, Lindsay G.

Eur J Cardiovasc Nurs. 2017 Jan;16(1):46-56. doi: 10.1177/1474515116636501. Epub 2016 Jul 8.

PMID:
26957513
7.

Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.

Aronson M, Gallinger S, Cohen Z, Cohen S, Dvir R, Elhasid R, Baris HN, Kariv R, Druker H, Chan H, Ling SC, Kortan P, Holter S, Semotiuk K, Malkin D, Farah R, Sayad A, Heald B, Kalady MF, Penney LS, Rideout AL, Rashid M, Hasadsri L, Pichurin P, Riegert-Johnson D, Campbell B, Bakry D, Al-Rimawi H, Alharbi QK, Alharbi M, Shamvil A, Tabori U, Durno C.

Am J Gastroenterol. 2016 Feb;111(2):275-84. doi: 10.1038/ajg.2015.392. Epub 2016 Jan 5.

PMID:
26729549
8.

The NMC should know spiritual care is as important as ever.

Rideout A.

Nurs Stand. 2015 May 27;29(39):33. doi: 10.7748/ns.29.39.33.s39.

PMID:
26015137
9.

Board's eye view--Staff development.

Rideout A.

Emerg Nurse. 2015 May;23(2):12. doi: 10.7748/en.23.2.12.s13. No abstract available.

PMID:
25952383
10.

Board's eye view---Speak your mind.

Rideout A.

Emerg Nurse. 2015 Apr;23(1):15. doi: 10.7748/en.23.1.15.s20. No abstract available.

PMID:
25854731
11.

Germline mutations in MAP3K6 are associated with familial gastric cancer.

Gaston D, Hansford S, Oliveira C, Nightingale M, Pinheiro H, Macgillivray C, Kaurah P, Rideout AL, Steele P, Soares G, Huang WY, Whitehouse S, Blowers S, LeBlanc MA, Jiang H, Greer W, Samuels ME, Orr A, Fernandez CV, Majewski J, Ludman M, Dyack S, Penney LS, McMaster CR, Huntsman D, Bedard K.

PLoS Genet. 2014 Oct 23;10(10):e1004669. doi: 10.1371/journal.pgen.1004669. eCollection 2014 Oct.

12.

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.

Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ; DDD Study, Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT.

Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14.

PMID:
25131214
13.

The Association Between Mild Cognitive Impairment and Self-care in Adults With Chronic Heart Failure: A Systematic Review and Narrative Synthesis.

Currie K, Rideout A, Lindsay G, Harkness K.

J Cardiovasc Nurs. 2015 Sep-Oct;30(5):382-93. doi: 10.1097/JCN.0000000000000173. Review.

PMID:
24988321
14.

Board's eye view - Gift of intuition.

Rideout A.

Emerg Nurse. 2014 Apr;22(1):8. doi: 10.7748/en2014.04.22.1.8.s8. No abstract available.

PMID:
24689473
15.

Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.

Chowdhury S, Bandholz AM, Parkash S, Dyack S, Rideout AL, Leppig KA, Thiese H, Wheeler PG, Tsang M, Ballif BC, Shaffer LG, Torchia BS, Ellison JW, Rosenfeld JA.

Am J Med Genet A. 2014 Jan;164A(1):62-9. doi: 10.1002/ajmg.a.36201. Epub 2013 Nov 15.

PMID:
24243649
16.

Beneficial association of serum ghrelin and peptide YY with bone mineral density in the Newfoundland population.

Amini P, Cahill F, Wadden D, Ji Y, Pedram P, Vidyasankar S, Yi Y, Gulliver W, Paterno G, Zhang H, Rideout A, Sun G.

BMC Endocr Disord. 2013 Sep 23;13:35. doi: 10.1186/1472-6823-13-35.

17.

Brief encounter.

Rideout A.

Emerg Nurse. 2013 Apr;21(1):9. No abstract available.

PMID:
23691891
18.

Making predictions of mangrove deforestation: a comparison of two methods in Kenya.

Rideout AJ, Joshi NP, Viergever KM, Huxham M, Briers RA.

Glob Chang Biol. 2013 Nov;19(11):3493-501. doi: 10.1111/gcb.12176. Epub 2013 Mar 25.

PMID:
23505156
19.

Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes.

Carroll JC, Rideout A, Wilson BJ, Allanson J, Blaine S, Esplen MJ, Farrell S, Graham GE, MacKenzie J, Meschino WS, Prakash P, Shuman C, Taylor S, Tobin S.

Can Fam Physician. 2013 Jan;59(1):e39-47.

20.

Compulsory cycle helmets.

Rideout A.

Emerg Nurse. 2012 Oct;20(6):7. No abstract available.

PMID:
23167005
21.

If the tricorn hat fits.

Rideout A.

Emerg Nurse. 2012 Sep 13;20(5):8.

PMID:
27715202
22.

Value of teamwork.

Rideout A.

Emerg Nurse. 2012 Apr 11;20(1):11. doi: 10.7748/en2012.04.20.1.11.p8041.

PMID:
26966841
23.

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB.

Am J Hum Genet. 2012 Mar 9;90(3):457-66. doi: 10.1016/j.ajhg.2012.01.018. Epub 2012 Feb 16. Erratum in: Am J Hum Genet. 2016 Aug 4;99(2):521.

24.
25.

Patient mortality in the 12 years following enrolment into a pre-surgical cardiac rehabilitation programme.

Rideout A, Lindsay G, Godwin J.

Clin Rehabil. 2012 Jul;26(7):642-7. doi: 10.1177/0269215511429161. Epub 2011 Dec 15.

PMID:
22172922
26.

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.

Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME.

Nat Genet. 2011 Feb 27;43(4):360-4. doi: 10.1038/ng.777.

PMID:
21358631
27.

Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease.

Guernsey DL, Jiang H, Bedard K, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Perry S, Rideout AL, Orr A, Ludman M, Skidmore DL, Benstead T, Samuels ME.

PLoS Genet. 2010 Aug 26;6(8). pii: e1001081. doi: 10.1371/journal.pgen.1001081.

28.

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME.

Am J Hum Genet. 2010 Jul 9;87(1):40-51. doi: 10.1016/j.ajhg.2010.06.003.

29.

Genetics: schizophrenia.

Rideout AL, Carroll JC, Blaine SM, Cremin C, Dorman H, Gibbons CA, Honeywell C, Meschino WS, Permaul J, Allanson J.

Can Fam Physician. 2009 Dec;55(12):1207. No abstract available.

30.

Genetic education for primary care providers: improving attitudes, knowledge, and confidence.

Carroll JC, Rideout AL, Wilson BJ, Allanson JM, Blaine SM, Esplen MJ, Farrell SA, Graham GE, MacKenzie J, Meschino W, Miller F, Prakash P, Shuman C, Summers A, Taylor S.

Can Fam Physician. 2009 Dec;55(12):e92-9.

31.

Novel mutations in the sacsin gene in ataxia patients from Maritime Canada.

Guernsey DL, Dubé MP, Jiang H, Asselin G, Blowers S, Evans S, Ferguson M, Macgillivray C, Matsuoka M, Nightingale M, Rideout A, Delatycki M, Orr A, Ludman M, Dooley J, Riddell C, Samuels ME.

J Neurol Sci. 2010 Jan 15;288(1-2):79-87. doi: 10.1016/j.jns.2009.09.034. Epub 2009 Nov 4.

PMID:
19892370
32.

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, Rideout AL, Provost S, Bedard K, Orr A, Dubé MP, Ludman M, Samuels ME.

Am J Hum Genet. 2009 Jul;85(1):120-9. doi: 10.1016/j.ajhg.2009.06.008. Epub 2009 Jul 2.

33.

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.

Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME.

Nat Genet. 2009 Jun;41(6):651-3. doi: 10.1038/ng.359. Epub 2009 May 3.

PMID:
19412178
34.

Interactive genetic counseling role-play: a novel educational strategy for family physicians.

Blaine SM, Carroll JC, Rideout AL, Glendon G, Meschino W, Shuman C, Telner D, Van Iderstine N, Permaul J.

J Genet Couns. 2008 Apr;17(2):189-95. doi: 10.1007/s10897-007-9142-z. Epub 2008 Jan 30.

PMID:
18231847
35.

Pai syndrome (median cleft palate, cutaneous nasal polyp, and midline lipoma of the corpus callosum): a case report and literature review.

Szeto C, Tewfik TL, Jewer D, Rideout A.

Int J Pediatr Otorhinolaryngol. 2005 Sep;69(9):1247-52. Review.

PMID:
15927272
36.

Study findings back ENP care.

Rideout A.

Emerg Nurse. 2001 May 1;9(2):4.

PMID:
27710123
37.

The vaginal introitus: a novel site for Chlamydia trachomatis testing in women.

Wiesenfeld HC, Heine RP, Rideout A, Macio I, DiBiasi F, Sweet RL.

Am J Obstet Gynecol. 1996 May;174(5):1542-6.

PMID:
9065126
38.

Paralytic shellfish poisoning--British Columbia.

Rideout A.

Can Dis Wkly Rep. 1988 Apr 2;14(13):53-5. English, French. No abstract available.

PMID:
3242874
39.

Cesarean section prophylaxis: comparison of two doses with three doses of mezlocillin.

Crombleholme WR, Green JR, Ohm-Smith M, Dahrouge D, DeKay V, Rideout A, Sweet RL.

Am J Reprod Immunol Microbiol. 1987 Mar;13(3):71-5.

PMID:
3300383

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