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Validation of the 8th edition UICC/AJCC TNM staging system for HPV associated oropharyngeal cancer patients managed with contemporary chemo-radiotherapy.

van Gysen K, Stevens M, Guo L, Jayamanne D, Veivers D, Wignall A, Pang L, Guminski A, Lee A, Hruby G, Macleod P, Taylor A, Eade T.

BMC Cancer. 2019 Jul 9;19(1):674. doi: 10.1186/s12885-019-5894-8.

Free Article

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.

J Med Genet. 2018 May;55(5):316-321. doi: 10.1136/jmedgenet-2017-105222. Epub 2018 Mar 29.


Citizen Engagement in Primary Care.

Kiran T, Davie S, MacLeod P.

Ann Fam Med. 2018 Mar;16(2):175. doi: 10.1370/afm.2185. No abstract available.


Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.

Thibodeau ML, Peters CH, Townsend KN, Shen Y, Hendson G, Adam S, Selby K, Macleod PM, Gershome C, Ruben P, Jones SJM; FORGE Canada Consortium, Friedman JM, Gibson WT, Horvath GA.

Am J Med Genet A. 2017 Nov;173(11):3087-3092. doi: 10.1002/ajmg.a.38400. Epub 2017 Sep 12.


Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2.

Almaguer-Mederos LE, Almaguer-Gotay D, Aguilera-Rodríguez R, González-Zaldívar Y, Cuello-Almarales D, Laffita-Mesa J, Vázquez-Mojena Y, Zayas-Feria P, Rodríguez-Labrada R, Velázquez-Pérez L, MacLeod P.

J Neurol Sci. 2017 Jan 15;372:324-328. doi: 10.1016/j.jns.2016.11.075. Epub 2016 Dec 5.


From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.

Sheikh TI, Ausió J, Faghfoury H, Silver J, Lane JB, Eubanks JH, MacLeod P, Percy AK, Vincent JB.

Sci Rep. 2016 Dec 8;6:38590. doi: 10.1038/srep38590.


Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease.

González-Zaldívar Y, Vázquez-Mojena Y, Laffita-Mesa JM, Almaguer-Mederos LE, Rodríguez-Labrada R, Sánchez-Cruz G, Aguilera-Rodríguez R, Cruz-Mariño T, Canales-Ochoa N, MacLeod P, Velázquez-Pérez L.

Cerebellum Ataxias. 2015 Feb 21;2:1. doi: 10.1186/s40673-015-0020-4. eCollection 2015.


A preliminary study of dopamine D2/3 receptor availability and social status in healthy and cocaine dependent humans imaged with [(11)C](+)PHNO.

Matuskey D, Gaiser EC, Gallezot JD, Angarita GA, Pittman B, Nabulsi N, Ropchan J, MaCleod P, Cosgrove KP, Ding YS, Potenza MN, Carson RE, Malison RT.

Drug Alcohol Depend. 2015 Sep 1;154:167-73. doi: 10.1016/j.drugalcdep.2015.06.039. Epub 2015 Jun 30.


Large normal and intermediate alleles in the context of SCA2 prenatal diagnosis.

Cruz-Mariño T, Laffita-Mesa JM, Gonzalez-Zaldivar Y, Velazquez-Santos M, Aguilera-Rodriguez R, Estupinan-Rodriguez A, Vazquez-Mojena Y, Macleod P, Paneque M, Velazquez-Perez L.

J Genet Couns. 2014 Feb;23(1):89-96. doi: 10.1007/s10897-013-9615-1. Epub 2013 Jun 28.


Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

Chapleau CA, Lane J, Kirwin SM, Schanen C, Vinette KM, Stubbolo D, MacLeod P, Glaze DG, Motil KJ, Neul JL, Skinner SA, Kaufmann WE, Percy AK.

Am J Med Genet A. 2013 Jul;161A(7):1638-46. doi: 10.1002/ajmg.a.35979. Epub 2013 May 21. Erratum in: Am J Med Genet A. 2014 May;164A(5):1346. Glaze, Daniel G [added]; Motil, Kathleen J [added]; Neul, Jeffrey L [added]; Skinner, Steven A [added]; Kaufmann, Walter E [added].


Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schüle R, Haack TB, Schöning M, Biskup S, Rudnik-Schöneborn S, Senderek J, Hoffmann KT, MacLeod P, Schwarz J, Bender B, Krüger S, Kreuz F, Bauer P, Schöls L.

Orphanet J Rare Dis. 2013 Mar 15;8:41. doi: 10.1186/1750-1172-8-41.


Imaging striatal dopaminergic function in phospholipase A2 group VI-related parkinsonism.

Agarwal P, Hogarth P, Hayflick S, MacLeod P, Kuriakose R, McKenzie J, Heffernan N, Dinelle K, Sossi V, Stoessl AJ.

Mov Disord. 2012 Nov;27(13):1698-9. doi: 10.1002/mds.25160. No abstract available.


Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation.

Gonzalez C, Gomes E, Kazachkova N, Bettencourt C, Raposo M, Kay TT, MacLeod P, Vasconcelos J, Lima M.

Genet Test Mol Biomarkers. 2012 Dec;16(12):1363-8. doi: 10.1089/gtmb.2011.0370.


The longitudinal elderly person shadowing program: outcomes from an interprofessional senior partner mentoring program.

Basran JF, Dal Bello-Haas V, Walker D, Macleod P, Allen B, D'Eon M, McKague M, Chopin NS, Trinder K.

Gerontol Geriatr Educ. 2012;33(3):302-23. doi: 10.1080/02701960.2012.679369.


Low predisposition to instability of the Friedreich ataxia gene in Cuban population.

Mariño TC, Zaldivar YG, Mesa JM, Mederos LA, Rodríguez RA, Gotay DA, Labrada RR, Ochoa NC, Macleod P, Pérez LV.

Clin Genet. 2010 Jun;77(6):598-600. doi: 10.1111/j.1399-0004.2009.01361.x. No abstract available.


Uncommon features in Cuban families affected with Friedreich ataxia.

Cruz-Mariño T, González-Zaldivar Y, Laffita-Mesa JM, Almaguer-Mederos L, Aguilera-Rodríguez R, Almaguer-Gotay D, Rodríguez-Labrada R, Canales-Ochoa N, Macleod P, Velázquez-Pérez L.

Neurosci Lett. 2010 Mar 19;472(2):85-9. doi: 10.1016/j.neulet.2010.01.045. Epub 2010 Jan 28.


Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.

Friedman J, Adam S, Arbour L, Armstrong L, Baross A, Birch P, Boerkoel C, Chan S, Chai D, Delaney AD, Flibotte S, Gibson WT, Langlois S, Lemyre E, Li HI, MacLeod P, Mathers J, Michaud JL, McGillivray BC, Patel MS, Qian H, Rouleau GA, Van Allen MI, Yong SL, Zahir FR, Eydoux P, Marra MA.

BMC Genomics. 2009 Nov 16;10:526. doi: 10.1186/1471-2164-10-526.


Longevity in Rett syndrome: analysis of the North American Database.

Kirby RS, Lane JB, Childers J, Skinner SA, Annese F, Barrish JO, Glaze DG, Macleod P, Percy AK.

J Pediatr. 2010 Jan;156(1):135-138.e1. doi: 10.1016/j.jpeds.2009.07.015.


Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients.

Wang JC, Dang L, Lomax B, Turner L, Shago M, Teebi AS, Klatt R, MacLeod PM, Yong SL, Nowaczyk MJ, Eydoux P.

Am J Med Genet A. 2009 Mar;149A(3):372-9. doi: 10.1002/ajmg.a.32675.


Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.

Tyson C, Qiao Y, Harvard C, Liu X, Bernier FP, McGillivray B, Farrell SA, Arbour L, Chudley AE, Clarke L, Gibson W, Dyack S, McLeod R, Costa T, Vanallen MI, Yong SL, Graham GE, Macleod P, Patel MS, Hurlburt J, Holden JJ, Lewis SM, Rajcan-Separovic E.

Mol Cytogenet. 2008 Nov 11;1:23. doi: 10.1186/1755-8166-1-23.


Fibrosing mediastinitis: successful stenting of the pulmonary artery.

Thiessen R, Matzinger FR, Seely J, Aina R, Macleod P.

Can Respir J. 2008 Jan-Feb;15(1):41-4.


Inverted duplication with terminal deletion of 5p and no cat-like cry.

Wang JC, Coe BP, Lomax B, MacLeod PM, Parslow MI, Schein JE, Lam WL, Eydoux P.

Am J Med Genet A. 2008 May 1;146A(9):1173-9. doi: 10.1002/ajmg.a.32246.


Rett syndrome: North American database.

Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P.

J Child Neurol. 2007 Dec;22(12):1338-41. doi: 10.1177/0883073807308715.


Perinatal lethal Gaucher's disease without prenatal complications.

Zay A, Choy FY, Macleod P, Tan-Dy CR.

Clin Genet. 2008 Feb;73(2):191-5. Epub 2007 Dec 6. No abstract available.


Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA.

Am J Hum Genet. 2007 Jan;80(1):152-61. Epub 2006 Dec 1.


The impact of prenatal diagnosis on neural tube defect (NTD) pregnancy versus birth incidence in British Columbia.

Van Allen MI, Boyle E, Thiessen P, McFadden D, Cochrane D, Chambers GK, Langlois S, Stathers P, Irwin B, Cairns E, MacLeod P, Delisle MF, Uh SH.

J Appl Genet. 2006;47(2):151-8.


Clinical stringency greatly improves mutation detection in Rett syndrome.

Gauthier J, de Amorim G, Mnatzakanian GN, Saunders C, Vincent JB, Toupin S, Kauffman D, St-Onge J, Laurent S, Macleod PM, Minassian BA, Rouleau GA.

Can J Neurol Sci. 2005 Aug;32(3):321-6.


Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

Saxena A, de Lagarde D, Leonard H, Williamson SL, Vasudevan V, Christodoulou J, Thompson E, MacLeod P, Ravine D.

J Med Genet. 2006 Jun;43(6):470-7. Epub 2005 Sep 9.


Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG.

Am J Hum Genet. 2005 Apr;76(4):609-22. Epub 2005 Feb 28.


Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.

Brooks-Wilson AR, Kaurah P, Suriano G, Leach S, Senz J, Grehan N, Butterfield YS, Jeyes J, Schinas J, Bacani J, Kelsey M, Ferreira P, MacGillivray B, MacLeod P, Micek M, Ford J, Foulkes W, Australie K, Greenberg C, LaPointe M, Gilpin C, Nikkel S, Gilchrist D, Hughes R, Jackson CE, Monaghan KG, Oliveira MJ, Seruca R, Gallinger S, Caldas C, Huntsman D.

J Med Genet. 2004 Jul;41(7):508-17.


Phase II study of alternating chemotherapy regimens for advanced non-small cell lung cancer.

Stewart DJ, Tomiak E, Shamji FM, Maziak DE, MacLeod P.

Lung Cancer. 2004 May;44(2):241-9.


A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA.

Nat Genet. 2004 Apr;36(4):339-41. Epub 2004 Mar 21. Erratum in: Nat Genet. 2004 May;36(5):540.


Ultrathin needle (25 G) aspiration lung biopsy: diagnostic accuracy and complication rates.

Oikonomou A, Matzinger FR, Seely JM, Dennie CJ, Macleod PJ.

Eur Radiol. 2004 Mar;14(3):375-82. Epub 2003 Oct 9. Review.


A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD.

Boycott KM, Parslow MI, Ross JL, Miller IP, Bech-Hansen NT, MacLeod PM.

Am J Med Genet A. 2003 Oct 1;122A(2):139-47.


Syndromes of disordered chromatin remodeling.

Ausió J, Levin DB, De Amorim GV, Bakker S, Macleod PM.

Clin Genet. 2003 Aug;64(2):83-95. Review.


Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000.

Creighton S, Almqvist EW, MacGregor D, Fernandez B, Hogg H, Beis J, Welch JP, Riddell C, Lokkesmoe R, Khalifa M, MacKenzie J, Sajoo A, Farrell S, Robert F, Shugar A, Summers A, Meschino W, Allingham-Hawkins D, Chiu T, Hunter A, Allanson J, Hare H, Schween J, Collins L, Sanders S, Greenberg C, Cardwell S, Lemire E, MacLeod P, Hayden MR.

Clin Genet. 2003 Jun;63(6):462-75.


Rett syndrome: investigation of nine patients, including PET scan.

Dunn HG, Stoessl AJ, Ho HH, MacLeod PM, Poskitt KJ, Doudet DJ, Schulzer M, Blackstock D, Dobko T, Koop B, de Amorim GV.

Can J Neurol Sci. 2002 Nov;29(4):345-57.


[Prophylactic gastrectomy in patients with deleterious E-cadherin gene mutation].

Huntsman D, Carneiro F, Lewis F, MacLeod P, Hayashi A, Monaghan K, Maung R, Seruca R, Jackson C, Caldas C.

Gastroenterol Clin Biol. 2001 Oct;25(10):931-2. French. No abstract available.


Disease knowledge and attitudes toward predictive testing and prenatal diagnosis in families with Machado-Joseph disease from the Azores Islands (Portugal).

Lima M, Kay T, Vasconcelos J, Mota-Vieira L, Gonzalez C, Peixoto A, Abade A, MacLeod P, Graca R, Santos J.

Community Genet. 2001;4(1):36-42.


Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

Brown NF, Mullur RS, Subramanian I, Esser V, Bennett MJ, Saudubray JM, Feigenbaum AS, Kobari JA, Macleod PM, McGarry JD, Cohen JC.

J Lipid Res. 2001 Jul;42(7):1134-42.


Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations.

Huntsman DG, Carneiro F, Lewis FR, MacLeod PM, Hayashi A, Monaghan KG, Maung R, Seruca R, Jackson CE, Caldas C.

N Engl J Med. 2001 Jun 21;344(25):1904-9.


Interaction of gustatory and lingual somatosensory perceptions at the cortical level in the human: a functional magnetic resonance imaging study.

Cerf-Ducastel B, Van de Moortele PF, MacLeod P, Le Bihan D, Faurion A.

Chem Senses. 2001 May;26(4):371-83.


Rett syndrome: review of biological abnormalities.

Dunn HG, MacLeod PM.

Can J Neurol Sci. 2001 Feb;28(1):16-29. Review.


Familial gastric cancer: overview and guidelines for management.

Caldas C, Carneiro F, Lynch HT, Yokota J, Wiesner GL, Powell SM, Lewis FR, Huntsman DG, Pharoah PD, Jankowski JA, MacLeod P, Vogelsang H, Keller G, Park KG, Richards FM, Maher ER, Gayther SA, Oliveira C, Grehan N, Wight D, Seruca R, Roviello F, Ponder BA, Jackson CE.

J Med Genet. 1999 Dec;36(12):873-80. Review.


Sensory analysis of four medical spa spring waters containing various mineral concentrations.

Bacle I, Meges S, Lauze C, Macleod P, Dupuy P.

Int J Dermatol. 1999 Oct;38(10):784-6.


Increasing evidence for a new X-linked mental retardation/epilepsy gene localized to Xp21.3-Xp22.1.

Bruyère H, Lewis ME, Wood S, MacLeod P, Langlois S.

Am J Med Genet. 1999 Oct 8;86(4):401. No abstract available.


Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.

Bruyere H, Lewis S, Wood S, MacLeod PJ, Langlois S.

Clin Genet. 1999 Mar;55(3):173-81.


A case control study of falls in the hospital setting.

Ash KL, MacLeod P, Clark L.

J Gerontol Nurs. 1998 Dec;24(12):7-15. No abstract available.


Identification of germ-line E-cadherin mutations in gastric cancer families of European origin.

Gayther SA, Gorringe KL, Ramus SJ, Huntsman D, Roviello F, Grehan N, Machado JC, Pinto E, Seruca R, Halling K, MacLeod P, Powell SM, Jackson CE, Ponder BA, Caldas C.

Cancer Res. 1998 Sep 15;58(18):4086-9.

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