PMC Links for Nucleotide (Select 171184431) - PMC

Select item 69987461.

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing

Sun Hee Rosenthal, Weimin Sun, Ke Zhang, Yan Liu, Quoclinh Nguyen, Anna Gerasimova, Camille Nery, Linda Cheng, Carolyn Castonguay, Elaine Hiller, James Li, Christopher Elzinga, David Wolfson, Alla Smolgovsky, Rebecca Chen, Arlene Buller-Burckle, Joseph Catanese, Andrew Grupe, Felicitas Lacbawan, Renius Owen

Biomed Res Int. 2020; 2020: 3289023. Published online 2020 Jan 22. doi: 10.1155/2020/3289023

PMCID:: PMC6998746

Abstract Article PDF–443K

Select item 67925092.

Genetic risk association of CDKN1A and RET gene SNPs with medullary thyroid carcinoma: Results from the largest MTC cohort and meta‐analysis

Vasudha Mishra, Pradnya Kowtal, Pallavi Rane, Rajiv Sarin

Cancer Med. 2019 Oct; 8(13): 6151–6161. Published online 2019 Aug 13. doi: 10.1002/cam4.2443

PMCID:: PMC6792509

Abstract Article PDF–1.5M

Select item 63968113.

Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non–Small Cell Lung Cancer

Charu Aggarwal, Jeffrey C. Thompson, Taylor A. Black, Sharyn I. Katz, Ryan Fan, Stephanie S. Yee, Austin L. Chien, Tracey L. Evans, Joshua M. Bauml, Evan W. Alley, Christine A. Ciunci, Abigail T. Berman, Roger B. Cohen, David B. Lieberman, Krishna S. Majmundar, Samantha L. Savitch, Jennifer J. D. Morrissette, Wei-Ting Hwang, Kojo S. J. Elenitoba-Johnson, Corey J. Langer, Erica L. Carpenter

JAMA Oncol. 2019 Feb; 5(2): 173–180. Published online 2018 Oct 11. doi: 10.1001/jamaoncol.2018.4305

PMCID:: PMC6396811

Abstract Article

Select item 59249914.

A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma

Jin Wook Yi, Hye In Kang, Su-jin Kim, Chan Yong Seong, Young Jun Chai, June Young Choi, Moon-Woo Seong, Kyu Eun Lee, Sung Sup Park

Case Rep Endocrinol. 2018; 2018: 8657914. Published online 2018 Apr 15. doi: 10.1155/2018/8657914

PMCID:: PMC5924991

Abstract Article PDF–1.4M

Select item 58904715.

Uptake of ^99mTc-MIBI by Sclerosing Pneumocytoma Raising a False Suspicion of Metastasis From Medullary Thyroid Carcinoma

Georgios E Papadakis, Flavian Tabotta, Igor Levotanec, Michel Gonzalez, John O Prior, Stefano La Rosa, Gerasimos P Sykiotis

J Endocr Soc. 2018 Apr 1; 2(4): 386–390. Published online 2018 Mar 23. doi: 10.1210/js.2018-00014

PMCID:: PMC5890471

Abstract Article PDF–779K

Select item 52260506.

Oncocytic Variant of Medullary Thyroid Carcinoma: A Rare Case of Sporadic Multifocal and Bilateral RET Wild-Type Neoplasm with Revision of the Literature

Gian Luca Rampioni Vinciguerra, Niccolò Noccioli, Claudia Cippitelli, Angelo Minucci, Ettore Capoluongo, Armando Bartolazzi

Rare Tumors. 2016 Nov 17; 8(4): 6537. Published online 2016 Dec 20. doi: 10.4081/rt.2016.6537

PMCID:: PMC5226050

Abstract Article PDF–208K

Select item 44722637.

A rare case of juvenile hypertension: coexistence of type 2 multiple endocrine neoplasia -related bilateral pheochromocytoma and reninoma in a young patient with ACE gene polymorphism

Rosa Maria Paragliola, Ettore Capoluongo, Francesco Torino, Angelo Minucci, Giulia Canu, Alessandro Prete, Alfredo Pontecorvi, Salvatore Maria Corsello

BMC Endocr Disord. 2015; 15: 30. Published online 2015 Jun 18. doi: 10.1186/s12902-015-0022-5

PMCID:: PMC4472263

Abstract Article PDF–373K

Select item 40458068.

RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease

Eliska Vaclavikova, Sarka Dvorakova, Richard Skaba, Lucie Pos, Vlasta Sykorova, Tereza Halkova, Josef Vcelak, Bela Bendlova

PLoS One. 2014; 9(6): e98957. Published online 2014 Jun 4. doi: 10.1371/journal.pone.0098957

PMCID:: PMC4045806

Abstract Article PDF–331K

Select item 35035269.

Hirschsprung’s disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation

Tonia C. Carter, Denise M. Kay, Marilyn L. Browne, Aiyi Liu, Paul A. Romitti, Devon Kuehn, Mary R. Conley, Michele Caggana, Charlotte M. Druschel, Lawrence C. Brody, James L. Mills

J Hum Genet. Author manuscript; available in PMC 2013 Aug 1.

Published in final edited form as: J Hum Genet. 2012 Aug; 57(8): 485–493. Published online 2012 May 31. doi: 10.1038/jhg.2012.54

PMCID:: PMC3503526

Abstract Article PDF–347K

Select item 339725710.

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

Jennifer J. Johnston, Wendy S. Rubinstein, Flavia M. Facio, David Ng, Larry N. Singh, Jamie K. Teer, James C. Mullikin, Leslie G. Biesecker

Am J Hum Genet. 2012 Jul 13; 91(1): 97–108. doi: 10.1016/j.ajhg.2012.05.021

PMCID:: PMC3397257

Abstract Article PDF–506K

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