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Items: 1 to 20 of 407

1.

Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene.

Dyment DA, Cader MZ, Chao MJ, Lincoln MR, Morrison KM, Disanto G, Morahan JM, De Luca GC, Sadovnick AD, Lepage P, Montpetit A, Ebers GC, Ramagopalan SV.

Neurology. 2012 Jul 31;79(5):406-11. doi: 10.1212/WNL.0b013e3182616fc4.

2.

Exome sequencing to find rare variants causing neurologic diseases.

Doherty D, Bamshad MJ.

Neurology. 2012 Jul 31;79(5):396-7. doi: 10.1212/WNL.0b013e3182617170. No abstract available.

PMID:
22744653
3.

Rare variants in the CYP27B1 gene are associated with multiple sclerosis.

Ramagopalan SV, Dyment DA, Cader MZ, Morrison KM, Disanto G, Morahan JM, Berlanga-Taylor AJ, Handel A, De Luca GC, Sadovnick AD, Lepage P, Montpetit A, Ebers GC.

Ann Neurol. 2011 Dec;70(6):881-6. doi: 10.1002/ana.22678.

PMID:
22190362
4.

Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor.

Ban M, Goris A, Lorentzen AR, Baker A, Mihalova T, Ingram G, Booth DR, Heard RN, Stewart GJ, Bogaert E, Dubois B, Harbo HF, Celius EG, Spurkland A, Strange R, Hawkins C, Robertson NP, Dudbridge F, Wason J, De Jager PL, Hafler D, Rioux JD, Ivinson AJ, McCauley JL, Pericak-Vance M, Oksenberg JR, Hauser SL, Sexton D, Haines J, Sawcer S; Wellcome Trust Case-Control Consortium (WTCCC)., Compston A.

Eur J Hum Genet. 2009 Oct;17(10):1309-13. doi: 10.1038/ejhg.2009.41.

5.

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis.

Mero IL, Lorentzen AR, Ban M, Smestad C, Celius EG, Aarseth JH, Myhr KM, Link J, Hillert J, Olsson T, Kockum I, Masterman T, Oturai AB, Søndergaard HB, Sellebjerg F, Saarela J, Kemppinen A, Elovaara I, Spurkland A, Dudbridge F, Lie BA, Harbo HF.

Eur J Hum Genet. 2010 Apr;18(4):502-4. doi: 10.1038/ejhg.2009.195.

6.

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.

Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT Jr, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, Hsu L, Jackson RD, Jarvik GP, Kim DS, Lakshminarayan K, Lange LA, Manichaikul A, Quinlan AR, Singleton AB, Thornton TA, Nickerson DA, Peters U, Rich SS; National Heart, Lung, and Blood Institute Exome Sequencing Project..

JAMA Neurol. 2015 Jul;72(7):781-8. doi: 10.1001/jamaneurol.2015.0582.

7.

Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family study.

Xu S, Zhou F, Tao J, Song L, Ng SC, Wang X, Chen L, Yi F, Ran Z, Zhou R, Xia B.

PLoS One. 2014 Jun 17;9(6):e99807. doi: 10.1371/journal.pone.0099807.

8.

Association of polymorphisms across the tyrosine kinase gene, TYK2 in UK SLE families.

Cunninghame Graham DS, Akil M, Vyse TJ.

Rheumatology (Oxford). 2007 Jun;46(6):927-30.

PMID:
17384181
9.

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.

PMID:
25293953
10.

Genetic association of ARHGAP21 gene variant with mandibular prognathism.

Perillo L, Monsurrò A, Bonci E, Torella A, Mutarelli M, Nigro V.

J Dent Res. 2015 Apr;94(4):569-76. doi: 10.1177/0022034515572190.

PMID:
25691070
11.

Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene.

Tada H, Kawashiri MA, Nohara A, Saito R, Tanaka Y, Nomura A, Konno T, Sakata K, Fujino N, Takamura T, Inazu A, Mabuchi H, Yamagishi M, Hayashi K.

Atherosclerosis. 2015 Jun;240(2):324-9. doi: 10.1016/j.atherosclerosis.2015.04.003.

PMID:
25875382
12.

Tyrosine kinase 2 variant influences T lymphocyte polarization and multiple sclerosis susceptibility.

Couturier N, Bucciarelli F, Nurtdinov RN, Debouverie M, Lebrun-Frenay C, Defer G, Moreau T, Confavreux C, Vukusic S, Cournu-Rebeix I, Goertsches RH, Zettl UK, Comabella M, Montalban X, Rieckmann P, Weber F, Müller-Myhsok B, Edan G, Fontaine B, Mars LT, Saoudi A, Oksenberg JR, Clanet M, Liblau RS, Brassat D.

Brain. 2011 Mar;134(Pt 3):693-703. doi: 10.1093/brain/awr010.

PMID:
21354972
13.

Whole-exome sequencing of a pedigree segregating asthma.

DeWan AT, Egan KB, Hellenbrand K, Sorrentino K, Pizzoferrato N, Walsh KM, Bracken MB.

BMC Med Genet. 2012 Oct 9;13:95. doi: 10.1186/1471-2350-13-95.

14.

Risk alleles for multiple sclerosis in multiplex families.

D'Netto MJ, Ward H, Morrison KM, Ramagopalan SV, Dyment DA, DeLuca GC, Handunnetthi L, Sadovnick AD, Ebers GC.

Neurology. 2009 Jun 9;72(23):1984-8. doi: 10.1212/WNL.0b013e3181a92c25.

PMID:
19506219
15.

Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy.

Lim YM, Koh I, Park YM, Kim JJ, Kim DS, Kim HJ, Baik KH, Choi HY, Yang GS, Also-Rallo E, Tizzano EF, Gamez J, Park K, Yoo HW, Lee JK, Kim KK.

Neuromuscul Disord. 2012 May;22(5):394-400. doi: 10.1016/j.nmd.2011.11.006.

PMID:
22264561
16.

CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.

Mitsui J, Matsukawa T, Ishiura H, Higasa K, Yoshimura J, Saito TL, Ahsan B, Takahashi Y, Goto J, Iwata A, Niimi Y, Riku Y, Goto Y, Mano K, Yoshida M, Morishita S, Tsuji S.

Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):951-7. doi: 10.1002/ajmg.b.32100.

PMID:
23038421
17.

Genetic variants of Complex I in multiple sclerosis.

Vyshkina T, Banisor I, Shugart YY, Leist TP, Kalman B.

J Neurol Sci. 2005 Jan 15;228(1):55-64.

PMID:
15607211
18.

Association of SNPs rs6498169 and rs10984447 with multiple sclerosis in Saudi patients: a model of the usefulness of familial aggregates in identifying genetic linkage in a multifactorial disease.

Al Jumah M, Al Balwi M, Hussein M, Kojan S, Al Khathaami A, Al Fawaz M, Al Muzaini B, Jawhary A, Al Abdulkareem I.

Mult Scler. 2012 Oct;18(10):1395-400.

PMID:
22492128
19.

Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families.

Timms AE, Dorschner MO, Wechsler J, Choi KY, Kirkwood R, Girirajan S, Baker C, Eichler EE, Korvatska O, Roche KW, Horwitz MS, Tsuang DW.

JAMA Psychiatry. 2013 Jun;70(6):582-90. doi: 10.1001/jamapsychiatry.2013.1195.

PMID:
23553203
20.

Aggregation of multiple sclerosis genetic risk variants in multiple and single case families.

Gourraud PA, McElroy JP, Caillier SJ, Johnson BA, Santaniello A, Hauser SL, Oksenberg JR.

Ann Neurol. 2011 Jan;69(1):65-74. doi: 10.1002/ana.22323.

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