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Items: 1 to 20 of 299

1.

Authors' Reply.

Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN.

J Mol Diagn. 2018 Jan;20(1):125-126. doi: 10.1016/j.jmoldx.2017.11.002.

2.

Identification of Germline Variants in Tumor Genomic Sequencing Analysis.

Montgomery ND, Selitsky SR, Patel NM, Hayes DN, Parker JS, Weck KE.

J Mol Diagn. 2018 Jan;20(1):123-125. doi: 10.1016/j.jmoldx.2017.09.008.

PMID:
29249243
3.

Rapid identification of germline mutations in retinoblastoma by protein truncation testing.

Tsai T, Fulton L, Smith BJ, Mueller RL, Gonzalez GA, Uusitalo MS, O'Brien JM.

Arch Ophthalmol. 2004 Feb;122(2):239-48.

PMID:
14769601
4.

Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.

Baudhuin LM, Funke BH, Bean LH, Deignan JL, Hofherr S, Miller DT, Nagan N, Santani A, Saunders C.

Clin Chem. 2016 Jun;62(6):799-806. doi: 10.1373/clinchem.2015.247874. Epub 2016 Feb 9. No abstract available.

5.

Exploring the Link between the Germline and Somatic Genome in Cancer.

Geeleher P, Huang RS.

Cancer Discov. 2017 Apr;7(4):354-355. doi: 10.1158/2159-8290.CD-17-0192.

6.

Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

Meric-Bernstam F, Brusco L, Daniels M, Wathoo C, Bailey AM, Strong L, Shaw K, Lu K, Qi Y, Zhao H, Lara-Guerra H, Litton J, Arun B, Eterovic AK, Aytac U, Routbort M, Subbiah V, Janku F, Davies MA, Kopetz S, Mendelsohn J, Mills GB, Chen K.

Ann Oncol. 2016 May;27(5):795-800. doi: 10.1093/annonc/mdw018. Epub 2016 Jan 19.

7.

[Study on the germline mutation of MSH6 gene in Chinese hereditary nonpolyposis colorectal cancer pedigrees using PCR based sequencing].

Yan SY, Zhou XY, Cai SJ, Yu BH, Zhang TM, Li XM, Lu YM, Zhou HH, Mo SJ, Du X, Shi DR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):640-5. Chinese.

PMID:
18067074
8.

Germline PHOX2B mutation in hereditary neuroblastoma.

Mosse YP, Laudenslager M, Khazi D, Carlisle AJ, Winter CL, Rappaport E, Maris JM.

Am J Hum Genet. 2004 Oct;75(4):727-30. No abstract available.

10.

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.

Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, Lee C, Turner DJ, Hurles ME.

Nat Genet. 2010 May;42(5):385-91. doi: 10.1038/ng.564. Epub 2010 Apr 4.

11.

The authors' reply to letter to the editor re: Bagherzadeh-Khiabani et al., J Clin Epi, 2015.

Bagherzadeh-Khiabani F, Steyerberg EW, Khalili D.

J Clin Epidemiol. 2016 Jul;75:131-2. doi: 10.1016/j.jclinepi.2016.02.009. Epub 2016 Mar 3. No abstract available.

PMID:
26939930
12.

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.

McInerney-Leo AM, Marshall MS, Gardiner B, Benn DE, McFarlane J, Robinson BG, Brown MA, Leo PJ, Clifton-Bligh RJ, Duncan EL.

Clin Endocrinol (Oxf). 2014 Jan;80(1):25-33. doi: 10.1111/cen.12331. Epub 2013 Oct 25.

PMID:
24102379
13.

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

Carvalho RA, Urtremari B, Jorge AAL, Santana LS, Quedas EPS, Sekiya T, Longuini VC, Montenegro FLM, Lerario AM, Toledo SPA, Marx SJ, Toledo RA, Lourenço DM Jr.

Eur J Endocrinol. 2018 Dec 1;179(6):391-407. doi: 10.1530/EJE-18-0430.

PMID:
30324798
14.

Three novel germline mutations in the adenomatous polyposis coli gene.

Scarano MI, De Rosa M, Gentile M, Bucci L, Ferulano GP, Carlomagno N, Renda A, Guanti G, Salvatore F, Izzo P.

Hum Mutat. 1997;9(2):191-3. No abstract available.

PMID:
9067764
15.

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014 Apr 11;9(4):e94554. doi: 10.1371/journal.pone.0094554. eCollection 2014.

16.
17.

Response to 'pervasive sequence patents cover the entire human genome' - authors' reply.

Rosenfeld J, Mason C.

Genome Med. 2014 Feb 27;6(2):15. doi: 10.1186/gm532. eCollection 2014.

18.

Sarcoma and germ-line DICER1 mutations - Authors' reply.

Ballinger ML, Thomas DM; International Sarcoma Kindred Study.

Lancet Oncol. 2016 Nov;17(11):e471. doi: 10.1016/S1470-2045(16)30527-7. No abstract available.

PMID:
27819238
20.

Correspondence.

Sorscher SM, Pilarski R, Daly M.

J Natl Compr Canc Netw. 2016 May;14(5):l-li. No abstract available.

PMID:
27160237

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