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Results: 1 to 20 of 368

1.

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature, and intellectual disability.

Kernohan KD, Tétreault M, Liwak-Muir U, Geraghty MT, Qin W, Venkateswaran S, Davila J; Care4Rare Canada Consortium, Holcik M, Majewski J, Richer J, Boycott KM.

Hum Mol Genet. 2015 Aug 24. pii: ddv337. [Epub ahead of print]

PMID:
26307080
2.

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.

Wagner JD, Huang L, Tetreault M, Majewski J, Boycott KM, Bulman DE; Care4Rare Canada Consortium, Dyment DA, McMillan HJ.

Neuromuscul Disord. 2015 Aug 5. pii: S0960-8966(15)00690-2. doi: 10.1016/j.nmd.2015.07.017. [Epub ahead of print]

PMID:
26298607
3.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Chardon JW, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM.

Clin Genet. 2015 Aug 18. doi: 10.1111/cge.12654. [Epub ahead of print]

PMID:
26283276
4.

Large diaphragmatic hernia subject to successful reconstruction - case report.

Kurek J, Gierek M, Ochała G, Majewski J.

Pol Przegl Chir. 2015 Jun 1;87(6):312-4. doi: 10.1515/pjs-2015-0060.

PMID:
26247503
5.

Leveling the Playing Field in Homozygosity Mapping Using Map Distances.

Li Y, Cagirici HB, Horpaopan S, Ott J, Imai A, Majewski J, Lathrop M.

Ann Hum Genet. 2015 Jul 15. doi: 10.1111/ahg.12125. [Epub ahead of print]

PMID:
26179257
6.

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK.

Au PY, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, Ferguson M, Valle D, Parboosingh JS, Sobreira N, Innes AM, Kline AD.

Hum Mutat. 2015 Jul 14. doi: 10.1002/humu.22837. [Epub ahead of print]

PMID:
26173930
7.

Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing.

Imai A, Nakaya A, Fahiminiya S, Tétreault M, Majewski J, Sakata Y, Takashima S, Lathrop M, Ott J.

Sci Rep. 2015 Jul 6;5:12028. doi: 10.1038/srep12028.

8.

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Lines M, Boycott KM, Shoubridge EA, Mitchell JJ; Care4Rare Canada Consortium, Michaud JL, Majewski J.

Hum Genet. 2015 Sep;134(9):981-91. doi: 10.1007/s00439-015-1577-y. Epub 2015 Jun 23.

PMID:
26099313
9.

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

Sawyer SL, Cheuk-Him Ng A, Innes AM, Wagner JD, Dyment DA, Tetreault M; Care4Rare Canada Consortium, Majewski J, Boycott KM, Screaton RA, Nicholson G.

Hum Mol Genet. 2015 Sep 15;24(18):5109-5114. Epub 2015 Jun 17.

PMID:
26085578
10.

Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

Mendoza-Londono R, Fahiminiya S, Majewski J; Care4Rare Canada Consortium, Tétreault M, Nadaf J, Kannu P, Sochett E, Howard A, Stimec J, Dupuis L, Roschger P, Klaushofer K, Palomo T, Ouellet J, Al-Jallad H, Mort JS, Moffatt P, Boudko S, Bächinger HP, Rauch F.

Am J Hum Genet. 2015 Jun 4;96(6):979-85. doi: 10.1016/j.ajhg.2015.04.021. Epub 2015 May 28.

PMID:
26027498
11.

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME.

Am J Hum Genet. 2015 Jun 4;96(6):971-8. doi: 10.1016/j.ajhg.2015.04.017. Epub 2015 May 28.

PMID:
26027496
12.

Large bowel mucosal neoplasia in the original specimen may increase the risk of ileal pouch neoplasia in patients following restorative proctocolectomy for ulcerative colitis.

Bobkiewicz A, Krokowicz L, Paszkowski J, Studniarek A, Szmyt K, Majewski J, Walkowiak J, Majewski P, Drews M, Banasiewicz T.

Int J Colorectal Dis. 2015 May 29. [Epub ahead of print]

PMID:
26022647
13.

Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.

Tetreault M, Bareke E, Nadaf J, Alirezaie N, Majewski J.

Expert Rev Mol Diagn. 2015 Jun;15(6):749-60. doi: 10.1586/14737159.2015.1039516. Epub 2015 May 9.

PMID:
25959410
14.

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T, Taylor S, van Karnebeek C, Zawati MH, Lauzon J, Armour CM; Canadian College of Medical Geneticists.

J Med Genet. 2015 Jul;52(7):431-7. doi: 10.1136/jmedgenet-2015-103144. Epub 2015 May 7.

15.

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.

Frosk P, Chodirker B, Simard L, El-Matary W, Hanlon-Dearman A, Schwartzentruber J, Majewski J; FORGE Canada Consortium, Rockman-Greenberg C.

BMC Med Genet. 2015 Apr 30;16:28. doi: 10.1186/s12881-015-0175-0.

16.

Germline RECQL mutations are associated with breast cancer susceptibility.

Cybulski C, Carrot-Zhang J, Kluźniak W, Rivera B, Kashyap A, Wokołorczyk D, Giroux S, Nadaf J, Hamel N, Zhang S, Huzarski T, Gronwald J, Byrski T, Szwiec M, Jakubowska A, Rudnicka H, Lener M, Masojć B, Tonin PN, Rousseau F, Górski B, Dębniak T, Majewski J, Lubiński J, Foulkes WD, Narod SA, Akbari MR.

Nat Genet. 2015 Jun;47(6):643-6. doi: 10.1038/ng.3284. Epub 2015 Apr 27.

PMID:
25915596
17.

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

Hinttala R, Sasarman F, Nishimura T, Antonicka H, Brunel-Guitton C, Schwartzentruber J, Fahiminiya S, Majewski J, Faubert D, Ostergaard E, Smeitink JA, Shoubridge EA.

Hum Mol Genet. 2015 Jul 15;24(14):4103-13. doi: 10.1093/hmg/ddv149. Epub 2015 Apr 24.

PMID:
25911677
18.

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.

Richer J, Daoud H, Geier P, Jarinova O, Carson N, Feberova J, Fadfel NB, Unrau J, Bareke E, Khatchadourian K, Bulman DE, Majewski J, Boycott KM, Dyment DA.

Am J Med Genet A. 2015 Jul;167(7):1654-8. doi: 10.1002/ajmg.a.37067. Epub 2015 Apr 21.

PMID:
25899979
19.

Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing.

Liu H, Sawyer SL, Gos M, Grynspan D, Issa K, Ramphal R, Rotaru C, Consortium FC, Majewski J, Boycott KM, Graham G, Bromwich M.

Am J Med Genet A. 2015 Jun;167(6):1337-41. doi: 10.1002/ajmg.a.36969. Epub 2015 Apr 21.

PMID:
25899773
20.

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.

Ben-Omran T, Fahiminiya S, Sorfazlian N, Almuriekhi M, Nawaz Z, Nadaf J, Khadija KA, Zaineddin S, Kamel H, Majewski J, Tropepe V.

J Med Genet. 2015 Jun;52(6):381-90. doi: 10.1136/jmedgenet-2014-102707. Epub 2015 Apr 14.

PMID:
25873735
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