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Results: 1 to 20 of 182

1.

Combined linkage analysis and exome sequencing identifies novel genes for familial goiter.

Yan J, Takahashi T, Ohura T, Adachi H, Takahashi I, Ogawa E, Okuda H, Kobayashi H, Hitomi T, Liu W, Harada KH, Koizumi A.

J Hum Genet. 2013 Jun;58(6):366-77. doi: 10.1038/jhg.2013.20. Epub 2013 Mar 28.

PMID:
23535966
[PubMed - indexed for MEDLINE]
2.

Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese.

Yamaguchi T, Hosomichi K, Narita A, Shirota T, Tomoyasu Y, Maki K, Inoue I.

J Bone Miner Res. 2011 Jul;26(7):1655-61. doi: 10.1002/jbmr.385.

PMID:
21404329
[PubMed - indexed for MEDLINE]
3.

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS.

Brain. 2010 Dec;133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23.

PMID:
21106500
[PubMed - indexed for MEDLINE]
Free Article
4.

Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team.

Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15.

PMID:
23418287
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter.

Bayer Y, Neumann S, Meyer B, Rüschendorf F, Reske A, Brix T, Hegedüs L, Langer P, Nürnberg P, Paschke R.

J Clin Endocrinol Metab. 2004 Aug;89(8):4044-52.

PMID:
15292347
[PubMed - indexed for MEDLINE]
6.

Exome sequencing in a family segregating for celiac disease.

Szperl AM, Ricaño-Ponce I, Li JK, Deelen P, Kanterakis A, Plagnol V, van Dijk F, Westra HJ, Trynka G, Mulder CJ, Swertz M, Wijmenga C, Zheng HC.

Clin Genet. 2011 Aug;80(2):138-47. doi: 10.1111/j.1399-0004.2011.01714.x. Epub 2011 Jun 21.

PMID:
21627641
[PubMed - indexed for MEDLINE]
7.

Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.

Jia X, Zhang F, Bai J, Gao L, Zhang X, Sun H, Sun D, Guan R, Sun W, Xu L, Yue Z, Yu Y, Fu S.

BMC Med Genet. 2013 Oct 8;14:107. doi: 10.1186/1471-2350-14-107.

PMID:
24103489
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Further indications for genetic heterogeneity of euthyroid familial goiter.

Neumann S, Bayer Y, Reske A, Tajtáková M, Langer P, Paschke R.

J Mol Med (Berl). 2003 Nov;81(11):736-45. Epub 2003 Oct 15.

PMID:
14564411
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms.

Caputo M, Rivolta CM, Gutnisky VJ, Gruñeiro-Papendieck L, Chiesa A, Medeiros-Neto G, González-Sarmiento R, Targovnik HM.

J Endocrinol. 2007 Oct;195(1):167-77.

PMID:
17911408
[PubMed - indexed for MEDLINE]
Free Article
11.

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.

Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q.

PLoS One. 2013 Jul 30;8(7):e69549. doi: 10.1371/journal.pone.0069549. Print 2013.

PMID:
23936043
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder.

Cruceanu C, Ambalavanan A, Spiegelman D, Gauthier J, Lafrenière RG, Dion PA, Alda M, Turecki G, Rouleau GA.

Genome. 2013 Oct;56(10):634-40. doi: 10.1139/gen-2013-0081. Epub 2013 Sep 17.

PMID:
24237345
[PubMed - indexed for MEDLINE]
Free Article
13.

Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.

Guo BR, Zhang X, Chen G, Zhang JG, Sun LD, Du WD, Zhang Q, Cui Y, Zhu J, Tang XF, Xiao R, Liu Y, Li M, Tang HY, Yang X, Cheng H, Li M, Gao M, Li P, Wang JB, Xu FP, Zuo XB, Zheng XD, Zhang XG, Yang L, Liu JJ, Wang J, Yang S, Zhang XJ.

J Med Genet. 2012 Sep;49(9):563-8. doi: 10.1136/jmedgenet-2012-100868.

PMID:
22972947
[PubMed - indexed for MEDLINE]
14.

Exome sequencing identifies a new candidate mutation for susceptibility to diabetes in a family with highly aggregated type 2 diabetes.

Tanaka D, Nagashima K, Sasaki M, Funakoshi S, Kondo Y, Yasuda K, Koizumi A, Inagaki N.

Mol Genet Metab. 2013 May;109(1):112-7. doi: 10.1016/j.ymgme.2013.02.010. Epub 2013 Feb 21.

PMID:
23499280
[PubMed - indexed for MEDLINE]
15.

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

Nikopoulos K, Gilissen C, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EA, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MA, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FP, Collin RW.

Am J Hum Genet. 2010 Feb 12;86(2):240-7. doi: 10.1016/j.ajhg.2009.12.016.

PMID:
20159111
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Clinical and genetic analysis of a compound heterozygous mutation in the thyroglobulin gene in a Chinese twin family with congenital goiter and hypothyroidism.

Liu S, Zhang S, Li W, Zhang A, Qi F, Zheng G, Yan S, Ma X.

Twin Res Hum Genet. 2012 Feb;15(1):126-32. doi: 10.1375/twin.15.1.126.

PMID:
22784463
[PubMed - indexed for MEDLINE]
17.

Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.

Greenway SC, McLeod R, Hume S, Roslin NM, Alvarez N, Giuffre M, Zhan SH, Shen Y, Preuss C, Andelfinger G; FORGE Canada Consortium, Jones SJ, Gerull B.

Can J Cardiol. 2014 Feb;30(2):181-7. doi: 10.1016/j.cjca.2013.12.003. Epub 2013 Dec 6.

PMID:
24461919
[PubMed - indexed for MEDLINE]
18.

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. Epub 2012 Jun 27.

PMID:
22744673
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

Kim HJ, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW.

PLoS One. 2013 Nov 18;8(11):e79063. doi: 10.1371/journal.pone.0079063. eCollection 2013.

PMID:
24260153
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia.

Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S.

J Hum Genet. 2013 Jun;58(6):391-4. doi: 10.1038/jhg.2013.25. Epub 2013 Apr 4.

PMID:
23552673
[PubMed - indexed for MEDLINE]

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