PMC Links for Nucleotide (Select 319803102) - 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 59249912.

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 53123163.

Establishment of a large panel of patient-derived preclinical models of human renal cell carcinoma

Hervé Lang, Claire Béraud, Audrey Bethry, Sabrina Danilin, Véronique Lindner, Catherine Coquard, Sylvie Rothhut, Thierry Massfelder

Oncotarget. 2016 Sep 13; 7(37): 59336–59359. Published online 2016 Jul 18. doi: 10.18632/oncotarget.10659

PMCID:: PMC5312316

Abstract Article PDF–4.7M

Select item 50262704.

Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family

S Kinyas, Dr SA Ozal, H Guclu, V Gurlu, H Esgin, H Gurkan

Balkan J Med Genet. 2015 Dec 1; 18(2): 65–70. Published online 2016 Jul 9. doi: 10.1515/bjmg-2015-0087

PMCID:: PMC5026270

Abstract Article PDF–2.1M

Select item 45920795.

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

Eva Lenassi, Ajoy Vincent, Zheng Li, Zubin Saihan, Alison J Coffey, Heather B Steele-Stallard, Anthony T Moore, Karen P Steel, Linda M Luxon, Elise Héon, Maria Bitner-Glindzicz, Andrew R Webster

Eur J Hum Genet. 2015 Oct; 23(10): 1318–1327. Published online 2015 Feb 4. doi: 10.1038/ejhg.2014.283

PMCID:: PMC4592079

Abstract Article PDF–1.9M

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