PMC Articles for MedGen (Select 1053627) - PMC

Select item 91780081.

A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes

You-Ri Kang, So-Hyun Lee, Ni-Hsuan Lin, Seung-Jin Lee, Ai-Wen Yang, Gopalakrishnan Chandrasekaran, Kyung Wook Kang, Mi Sun Jin, Myeong-Kyu Kim, Ming-Der Perng, Seok-Yong Choi, Tai-Seung Nam

Eur J Hum Genet. 2022 Jun; 30(6): 687–694. Published online 2022 Mar 4. doi: 10.1038/s41431-022-01073-2

PMCID:: PMC9178008

Abstract Article PDF–1.3M

Select item 45614802.

Noncatalytic PTEN missense mutation predisposes to organ-selective cancer development in vivo

Enrico Caserta, Onur Egriboz, Hui Wang, Chelsea Martin, Christopher Koivisto, Thierry Pecót, Raleigh D. Kladney, Changxian Shen, Kang-Sup Shim, Thac Pham, Matthew K. Karikomi, Melissa J. Mauntel, Sarmila Majumder, Maria C. Cuitino, Xing Tang, Arunima Srivastava, Lianbo Yu, Julie Wallace, Xiaokui Mo, Morag Park, Soledad A. Fernandez, Robert Pilarski, Krista M.D. La Perle, Thomas J. Rosol, Vincenzo Coppola, Diego H. Castrillon, Cynthia Timmers, David E. Cohn, David M. O'Malley, Floor Backes, Adrian A. Suarez, Paul Goodfellow, Helen M. Chamberlin, Erin R. Macrae, Charles L. Shapiro, Michael C. Ostrowski, Gustavo Leone

Genes Dev. 2015 Aug 15; 29(16): 1707–1720. doi: 10.1101/gad.262568.115

PMCID:: PMC4561480

Abstract Article PDF–1.9M

Select item 23771373.

NESP55, a novel chromogranin-like peptide, is expressed in endocrine tumours of the pancreas and adrenal medulla but not in ileal carcinoids

A-M Jakobsen, H Ahlman, L Kölby, J Abrahamsson, R Fischer-Colbrie, O Nilsson

Br J Cancer. 2003 Jun 2; 88(11): 1746–1754. Published online 2003 May 27. doi: 10.1038/sj.bjc.6600924

PMCID:: PMC2377137

Abstract Article PDF–456K

Select item 21738824.

Ocular clusterin expression in von Hippel-Lindau disease

Min Zhou, Defen Shen, James E. Head, Emily Y. Chew, Patricia Chévez-Barrios, W. Richard Green, Chi-Chao Chan

Mol Vis. Author manuscript; available in PMC 2008 Jan 2.

Published in final edited form as: Mol Vis. 2007 Nov 15; 13: 2129–2136. Published online 2007 Nov 15.

PMCID:: PMC2173882

Abstract Article PDF–1.7M

Select item 20324345.

Adrenal medullary hyperplasia. A morphometric analysis in patients with familial medullary thyroid carcinoma.

R. A. DeLellis, H. J. Wolfe, R. F. Gagel, Z. T. Feldman, H. H. Miller, D. L. Gang, S. Reichlin

Am J Pathol. 1976 Apr; 83(1): 177–196.

PMCID:: PMC2032434

Summary Page Browse PDF–2.5M

Select item 17313336.

Primitive small round cell tumour of the adrenal gland presenting with fever of unknown origin and t(12;22)(q13;q12) cytogenetic finding

K Lam, C Lo, T Shek, E Ma, W Au, G Chan

J Clin Pathol. 2001 Dec; 54(12): 966–969. doi: 10.1136/jcp.54.12.966

PMCID:: PMC1731333

Summary PDF–165K

Select item 14824777.

The deficiency of Akt1 is sufficient to suppress tumor development in Pten^+/− mice

Mei-Ling Chen, Pei-Zhang Xu, Xiao Peng, William S. Chen, Grace Guzman, Ximing Yang, Antonio Di Cristofano, Pier Paolo Pandolfi, Nissim Hay

Genes Dev. 2006 Jun 15; 20(12): 1569–1574. doi: 10.1101/gad.1395006

PMCID:: PMC1482477

Abstract Article PDF–417K

Select item 5391948.

Distinct organ-specific metastatic potential of individual breast cancer cells and primary tumors

Andy J. Minn, Yibin Kang, Inna Serganova, Gaorav P. Gupta, Dilip D. Giri, Mikhail Doubrovin, Vladimir Ponomarev, William L. Gerald, Ronald Blasberg, Joan Massagué

J Clin Invest. 2005 Jan 3; 115(1): 44–55. doi: 10.1172/JCI22320