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Results: 1 to 20 of 320

1.

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Lynch DC, Revil T, Schwartzentruber J, Bhoj EJ, Innes AM, Lamont RE, Lemire EG, Chodirker BN, Taylor JP, Zackai EH, McLeod DR, Kirk EP, Hoover-Fong J, Fleming L, Savarirayan R; Care4Rare Canada, Majewski J, Jerome-Majewska LA, Parboosingh JS, Bernier FP.

Nat Commun. 2014 Jul 22;5:4483. doi: 10.1038/ncomms5483.

PMID:
25047197
[PubMed - in process]
2.

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: A retrospective study.

Dyment DA, Tetreault M, Beaulieu CL, Hartley T, Ferreira P, Warman Chardon J, Marcadier J, Sawyer SL, Mosca SJ, Micheil Innes A, Parboosingh JS; FORGE Canada Consortium; Care4Rare Canada, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott KM.

Clin Genet. 2014 Jul 21. doi: 10.1111/cge.12464. [Epub ahead of print]

PMID:
25046240
[PubMed - as supplied by publisher]
3.

The effectiveness of the atrial or atrio-ventricular stimulation for sick sinus syndrome in a long term observation.

Kuniewicz M, Rydlewska A, Karkowski G, Lelakowska-Pieła M, Majewski J, Lelakowski J.

Kardiol Pol. 2014 Jul 8. doi: 10.5603/KP.a2014.0148. [Epub ahead of print]

PMID:
25001847
[PubMed - as supplied by publisher]
Free Article
4.

Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity.

Gos M, Fahiminiya S, Poznański J, Klapecki J, Obersztyn E, Piotrowicz M, Wierzba J, Posmyk R, Bal J, Majewski J.

Am J Med Genet A. 2014 Jun 17. doi: 10.1002/ajmg.a.36646. [Epub ahead of print] No abstract available.

PMID:
24939608
[PubMed - as supplied by publisher]
5.

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.

Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, Rouleau GA.

EMBO Rep. 2014 Jul;15(7):766-74. doi: 10.15252/embr.201438840. Epub 2014 Jun 13.

PMID:
24928908
[PubMed - in process]
Free Article
6.

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJ, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintle RF, Shen Y, Scherer SW; FORGE Canada Consortium, Friedman JM, Michaud JL, Boycott KM.

Am J Hum Genet. 2014 Jun 5;94(6):809-17. doi: 10.1016/j.ajhg.2014.05.003.

PMID:
24906018
[PubMed - in process]
Free Article
7.

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.

Venkateswaran S, Myers KA, Smith AC, Beaulieu CL, Schwartzentruber JA; FORGE Canada Consortium, Majewski J, Bulman D, Boycott KM, Dyment DA.

Epilepsia. 2014 Jul;55(7):e75-9. doi: 10.1111/epi.12663. Epub 2014 Jun 5.

PMID:
24903190
[PubMed - in process]
8.

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.

Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, Fabrega S, Nitschké P, Esposti MD, Schwartzentruber J, Taylor N, Majewski J, Jabado N, Wynn RF, Picard C, Fischer A, Arkwright PD, Latour S.

Nature. 2014 Jun 12;510(7504):288-92. doi: 10.1038/nature13386. Epub 2014 May 28.

PMID:
24870241
[PubMed - indexed for MEDLINE]
9.

No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour.

Foulkes WD, Clarke BA, Hasselblatt M, Majewski J, Albrecht S, McCluggage WG.

J Pathol. 2014 Jul;233(3):209-14. doi: 10.1002/path.4362. Epub 2014 May 20.

PMID:
24752781
[PubMed - in process]
10.

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E; FORGE Canada Consortium, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE.

J Med Genet. 2014 Jul;51(7):470-4. doi: 10.1136/jmedgenet-2013-102218. Epub 2014 Apr 4.

PMID:
24706940
[PubMed - in process]
11.

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Mirzaa GM, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, Braun KP, Faivre L, Rivière JB, St-Onge J, Gripp KW, Mancini GM, Pang K, Sweeney E, van Esch H, Verbeek N, Wieczorek D, Steinraths M, Majewski J; FORGE Canada Consortium, Boycott KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG.

Nat Genet. 2014 May;46(5):510-5. doi: 10.1038/ng.2948. Epub 2014 Apr 6.

PMID:
24705253
[PubMed - indexed for MEDLINE]
12.

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.

Fontebasso AM, Papillon-Cavanagh S, Schwartzentruber J, Nikbakht H, Gerges N, Fiset PO, Bechet D, Faury D, De Jay N, Ramkissoon LA, Corcoran A, Jones DT, Sturm D, Johann P, Tomita T, Goldman S, Nagib M, Bendel A, Goumnerova L, Bowers DC, Leonard JR, Rubin JB, Alden T, Browd S, Geyer JR, Leary S, Jallo G, Cohen K, Gupta N, Prados MD, Carret AS, Ellezam B, Crevier L, Klekner A, Bognar L, Hauser P, Garami M, Myseros J, Dong Z, Siegel PM, Malkin H, Ligon AH, Albrecht S, Pfister SM, Ligon KL, Majewski J, Jabado N, Kieran MW.

Nat Genet. 2014 May;46(5):462-6. doi: 10.1038/ng.2950. Epub 2014 Apr 6.

PMID:
24705250
[PubMed - indexed for MEDLINE]
13.

CARD9 Deficiency and Spontaneous Central Nervous System Candidiasis: Complete Clinical Remission With GM-CSF Therapy.

Gavino C, Cotter A, Lichtenstein D, Lejtenyi D, Fortin C, Legault C, Alirezaie N, Majewski J, Sheppard DC, Behr MA, Foulkes WD, Vinh DC.

Clin Infect Dis. 2014 May 9. [Epub ahead of print]

PMID:
24704721
[PubMed - as supplied by publisher]
14.

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.

McMillan HJ, Schwartzentruber J, Smith A, Lee S, Chakraborty P, Bulman DE, Beaulieu CL, Majewski J, Boycott KM, Geraghty MT.

BMC Med Genet. 2014 Mar 26;15:36. doi: 10.1186/1471-2350-15-36.

PMID:
24669931
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, Dechene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzy Ski P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, Macarthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, Deluca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovre I L, Palanda I A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. [Epub ahead of print]

PMID:
24667040
[PubMed - as supplied by publisher]
Free PMC Article
16.

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD.

Nat Genet. 2014 May;46(5):438-43. doi: 10.1038/ng.2931. Epub 2014 Mar 23.

PMID:
24658002
[PubMed - indexed for MEDLINE]
17.

Osteoporosis Caused by Mutations in PLS3: Clinical and Bone Tissue Characteristics.

Fahiminiya S, Majewski J, Al-Jallad H, Moffatt P, Mort J, Glorieux FH, Roschger P, Klaushofer K, Rauch F.

J Bone Miner Res. 2014 Aug;29(8):1805-14. doi: 10.1002/jbmr.2208.

PMID:
24616189
[PubMed - in process]
18.

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.

Srour M, Putorti ML, Schwartzentruber J, Bolduc V, Shevell MI; FORGE consortium, Poulin C, O'Ferrall E, Buhas D, Majewski J, Brais B.

Muscle Nerve. 2014 Feb 24. doi: 10.1002/mus.24224. [Epub ahead of print]

PMID:
24616084
[PubMed - as supplied by publisher]
19.

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.

McDonell LM, Warman Chardon J, Schwartzentruber J, Foster D, Beaulieu CL; FORGE Canada Consortium, Majewski J, Bulman DE, Boycott KM.

BMC Neurol. 2014 Jan 31;14:22. doi: 10.1186/1471-2377-14-22.

PMID:
24479948
[PubMed - in process]
Free PMC Article
20.

Paediatric and adult glioblastoma: multiform (epi)genomic culprits emerge.

Sturm D, Bender S, Jones DT, Lichter P, Grill J, Becher O, Hawkins C, Majewski J, Jones C, Costello JF, Iavarone A, Aldape K, Brennan CW, Jabado N, Pfister SM.

Nat Rev Cancer. 2014 Feb;14(2):92-107. doi: 10.1038/nrc3655. Review.

PMID:
24457416
[PubMed - indexed for MEDLINE]
Free PMC Article

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