Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 149

Similar articles for PubMed (Select 22906081)

1.

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.

Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C, Goate A; Ibero-American Alzheimer Disease Genetics Group Researchers, Cruchaga C.

Alzheimers Res Ther. 2012 Aug 20;4(4):34. doi: 10.1186/alzrt137.

2.

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity, and is a familial breast cancer risk factor.

Peterlongo P, Catucci I, Colombo M, Caleca L, Mucaki E, Bogliolo M, Marin M, Damiola F, Bernard L, Pensotti V, Volorio S, Dall'Olio V, Meindl A, Bartram C, Sutter C, Surowy H, Sornin V, Dondon MG, Eon-Marchais S, Stoppa-Lyonnet D, Andrieu N, Sinilnikova OM; GENESIS, Mitchell G, James PA, Thompson E; kConFab; SWE-BRCA, Marchetti M, Verzeroli C, Tartari C, Capone G, Putignano AL, Genuardi M, Medici V, Marchi I, Federico M, Tognazzo S, Matricardi L, Agata S, Dolcetti R, Della Puppa L, Cini G, Gismondi V, Viassolo V, Perfumo C, Mencarelli MA, Baldassarri M, Peissel B, Roversi G, Silvestri V, Rizzolo P, Spina F, Vivanet C, Tibiletti MG, Caligo MA, Gambino G, Tommasi S, Pilato B, Tondini C, Corna C, Bonanni B, Barile M, Osorio A, Benitez J, Balestrino L, Ottini L, Manoukian S, Pierotti MA, Renieri A, Varesco L, Couch FJ, Wang X, Devilee P, Hilbers FS, van Asperen CJ, Viel A, Montagna M, Cortesi L, Diez O, Balmaña J, Hauke J, Schmutzler RK, Papi L, Pujana MA, Lázaro C, Falanga A, Offit K, Vijai J, Campbell I, Burwinkel B, Kvist A, Ehrencrona H, Mazoyer S, Pizzamiglio S, Verderio P, Surralles J, Rogan PK, Radice P.

Hum Mol Genet. 2015 Jun 30. pii: ddv251. [Epub ahead of print]

PMID:
26130695
3.

Rare coding mutations identified by sequencing of Alzheimer's disease GWAS loci.

Vardarajan BN, Ghani M, Kahn A, Sheikh S, Sato C, Barral S, Lee JH, Cheng R, Reitz C, Lantigua R, Reyes-Dumeyer D, Medrano M, Jimenez-Velazquez IZ, Rogaeva E, St George-Hyslop P, Mayeux R.

Ann Neurol. 2015 Jun 23. doi: 10.1002/ana.24466. [Epub ahead of print]

PMID:
26101835
4.

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I, Mizzi C, Giannopoulou E, Pavlidis C, Peters BA, Zagoriti Z, Stenson PD, Mitropoulos K, Borg J, Kalofonos HP, Drmanac R, Stubbs A, van de Spek P, Cooper DN, Katsila T, Patrinos GP.

Hum Genomics. 2015 Jun 20;9(1):12. [Epub ahead of print]

5.

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.

Xu M, Gelowani V, Eblimit A, Wang F, Young MP, Sawyer BL, Zhao L, Jenkins G, Creel DJ, Wang K, Ge Z, Wang H, Li Y, Hartnett ME, Chen R.

Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3889-95. doi: 10.1167/iovs.15-16778.

PMID:
26070061
6.

Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations.

Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2015 Jun 4;96(6):913-25. doi: 10.1016/j.ajhg.2015.04.013.

PMID:
26046366
7.

DSDecode: A Web-Based Tool for Decoding of Sequencing Chromatograms for Genotyping of Targeted Mutations.

Liu W, Xie X, Ma X, Li J, Chen J, Liu YG.

Mol Plant. 2015 May 30. pii: S1674-2052(15)00260-9. doi: 10.1016/j.molp.2015.05.009. [Epub ahead of print] No abstract available.

PMID:
26032088
8.

Association Study of the TREM2 Gene and Identification of a Novel Variant in Exon 2 in Iranian Patients with Late-Onset Alzheimer's Disease.

Mehrjoo Z, Najmabadi A, Abedini SS, Mohseni M, Kamali K, Najmabadi H, Khorram Khorshid HR.

Med Princ Pract. 2015;24:351-4. doi: 10.1159/000430842. Epub 2015 May 28.

PMID:
26021840
9.

Familial late-onset Alzheimer's disease: description of an Italian family with four affected siblings and one case of early-onset dementia in the preceding generation.

Abbate C, Arosio B, Cantatore A, Viti N, Giunco F, Bagarolo R, Nicolini P, Gussago C, Ferri E, Casati M, Rossi PD, Casè A, Bergamaschini L, Vergani C, Mari D.

Aging Clin Exp Res. 2015 May 27. [Epub ahead of print]

PMID:
26014970
10.

Target gene capture sequencing in chinese population of sporadic Parkinson disease.

Li Z, Lin Q, Huang W, Tzeng CM.

Medicine (Baltimore). 2015 May;94(20):e836. doi: 10.1097/MD.0000000000000836.

PMID:
25997059
11.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G.

Nat Genet. 2015 Jul;47(7):717-26. doi: 10.1038/ng.3304. Epub 2015 May 18.

PMID:
25985138
12.

Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.

Waldmüller S, Schroeder C, Sturm M, Scheffold T, Imbrich K, Junker S, Frische C, Hofbeck M, Bauer P, Bonin M, Gawaz M, Gramlich M.

Mol Cell Probes. 2015 May 12. pii: S0890-8508(15)00043-2. doi: 10.1016/j.mcp.2015.05.004. [Epub ahead of print]

PMID:
25979592
13.

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.

Laissue P.

Mol Cell Endocrinol. 2015 Aug 15;411:243-257. doi: 10.1016/j.mce.2015.05.005. Epub 2015 May 7. Review.

14.

Quantitative interaction proteomics of neurodegenerative disease proteins.

Hosp F, Vossfeldt H, Heinig M, Vasiljevic D, Arumughan A, Wyler E; the Genetic and Environmental Risk for Alzheimer’s Disease (GERAD1) Consortium, Landthaler M, Hubner N, Wanker EE, Lannfelt L, Ingelsson M, Lalowski M, Voigt A, Selbach M.

Cell Rep. 2015 May 19;11(7):1134-46. doi: 10.1016/j.celrep.2015.04.030. Epub 2015 May 7.

15.

Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis.

O'Rielly DD, Uddin M, Codner D, Hayley M, Zhou J, Pena-Castillo L, Mostafa AA, Hasan SM, Liu W, Haroon N, Inman R, Rahman P.

Ann Rheum Dis. 2015 May 8. pii: annrheumdis-2014-206484. doi: 10.1136/annrheumdis-2014-206484. [Epub ahead of print]

16.

Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.

Conidi ME, Bernardi L, Puccio G, Smirne N, Muraca MG, Curcio SA, Colao R, Piscopo P, Gallo M, Anfossi M, Frangipane F, Clodomiro A, Mirabelli M, Vasso F, Cupidi C, Torchia G, Di Lorenzo R, Mandich P, Confaloni A, Maletta RG, Bruni AC.

Neurology. 2015 Jun 2;84(22):2266-73. doi: 10.1212/WNL.0000000000001648. Epub 2015 May 6.

PMID:
25948718
17.

Slowly progressive behavioural presentation in two UK cases with the R406W MAPT mutation.

Wood R, Moodley K, Hodges JR, Allinson K, Spillantini MG, Chan D.

Neuropathol Appl Neurobiol. 2015 May 5. doi: 10.1111/nan.12247. [Epub ahead of print] No abstract available.

PMID:
25942996
18.

On the identification of low allele frequency mosaic mutations in the brains of Alzheimer disease patients.

Frigerio CS, Lau P, Troakes C, Deramecourt V, Gele P, Van Loo P, Voet T, De Strooper B.

Alzheimers Dement. 2015 Apr 28. pii: S1552-5260(15)00120-X. doi: 10.1016/j.jalz.2015.02.007. [Epub ahead of print]

PMID:
25937274
19.

Joubert syndrome: genotyping a Northern European patient cohort.

Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, van Haaften G.

Eur J Hum Genet. 2015 Apr 29. doi: 10.1038/ejhg.2015.84. [Epub ahead of print]

PMID:
25920555
20.

Additional mechanisms conferring genetic susceptibility to Alzheimer's disease.

Calero M, Gómez-Ramos A, Calero O, Soriano E, Avila J, Medina M.

Front Cell Neurosci. 2015 Apr 9;9:138. doi: 10.3389/fncel.2015.00138. eCollection 2015. Review.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk