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Items: 1 to 20 of 28

1.
Hypoxia-Inducible Factor 2 Alpha (HIF2α) Inhibitors: Targeting Genetically Driven Tumor Hypoxia
Rodrigo A Toledo, Camilo Jimenez, Gustavo Armaiz-Pena, Carlota Arenillas, Jaume Capdevila, Patricia L M Dahia
Endocr Rev. 2023 Apr; 44(2): 312–322. Published online 2022 Oct 27. doi: 10.1210/endrev/bnac025
PMCID:
PMC10216878
Article
2.
The clinical aspects of pituitary tumour genetics
Judit Dénes, Márta Korbonits
Endocrine. 2021; 71(3): 663–674. Published online 2021 Feb 4. doi: 10.1007/s12020-021-02633-0
PMCID:
PMC8016799
ArticlePDF–933K
3.
Review of Pediatric Head and Neck Neoplasms that Raise the Possibility of a Cancer Predisposition Syndrome
Nahir Cortes-Santiago, Kalyani Patel
Head Neck Pathol. 2021 Mar; 15(1): 16–24. Published online 2021 Mar 15. doi: 10.1007/s12105-021-01292-x
PMCID:
PMC8010005
ArticlePDF–3.0M
4.
Unexpected obesity, rather than tumorigenesis, in a conditional mouse model of mitochondrial complex II deficiency
Fatimah Al Khazal, Seungwoo Kang, Molly Nelson Holte, Doo‐Sup Choi, Ravinder Singh, Patricia Ortega‐Sáenz, José López‐Barneo, L. James Maher, III
FASEB J. 2021 Feb; 35(2): e21227. Published online 2020 Nov 27. doi: 10.1096/fj.202002100R
PMCID:
PMC7861419
ArticlePDF–1.0M
5.
The immunohistochemical, DNA methylation, and chromosomal copy number profile of cauda equina paraganglioma is distinct from extra-spinal paraganglioma
Biswarathan Ramani, Rohit Gupta, Jasper Wu, Jairo Barreto, Andrew W. Bollen, Tarik Tihan, Praveen V. Mummaneni, Christopher Ames, Aaron Clark, Nancy Ann Oberheim Bush, Nicholas Butowski, Daniel Phillips, Bruce E. King, Susan M. Bator, Elizabeth C. Treynor, Viktor Zherebitskiy, Paula S. Quinn, Jeffrey B. Walker, Melike Pekmezci, Daniel V. Sullivan, Jeffrey W. Hofmann, Emily A. Sloan, Susan Chang, Mitchel S. Berger, David A. Solomon, Arie Perry
Acta Neuropathol. Author manuscript; available in PMC 2021 Dec 1.
Published in final edited form as: Acta Neuropathol. 2020 Dec; 140(6): 907–917. Published online 2020 Sep 6. doi: 10.1007/s00401-020-02221-y
PMCID:
PMC7682537
ArticlePDF–3.0M
6.
Molecular characterization of CNS paragangliomas identifies cauda equina paragangliomas as a distinct tumor entity
Leonille Schweizer, Felix Thierfelder, Christian Thomas, Patrick Soschinski, Abigail Suwala, Damian Stichel, Annika K. Wefers, Lars Wessels, Martin Misch, Hee-yeong Kim, Ruben Jödicke, Daniel Teichmann, David Kaul, Johannes Kahn, Michael Bockmayr, Martin Hasselblatt, Alexander Younsi, Andreas Unterberg, Bettina Knie, Jan Walter, Diaa Al Safatli, Sven-Axel May, Andreas Jödicke, Georgios Ntoulias, Dag Moskopp, Peter Vajkoczy, Frank L. Heppner, David Capper, Wolfgang Hartmann, Christian Hartmann, Andreas von Deimling, David E. Reuss, Anne Schöler, Arend Koch
Acta Neuropathol. 2020; 140(6): 893–906. Published online 2020 Sep 14. doi: 10.1007/s00401-020-02218-7
PMCID:
PMC7666289
ArticlePDF–7.8M
7.
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein
Francisco R. Fields, Niraja Suresh, Morgan Hiller, Stefan D. Freed, Kasturi Haldar, Shaun W. Lee
PLoS One. 2020; 15(11): e0234100. Published online 2020 Nov 5. doi: 10.1371/journal.pone.0234100
PMCID:
PMC7644048
ArticlePDF–1.1M
8.
Exploration into biomarker potential of region-specific brain gene co-expression networks
Yuqing Hang, Mohammed Aburidi, Benafsh Husain, Allison R. Hickman, William L. Poehlman, F. Alex Feltus
Sci Rep. 2020; 10: 17089. Published online 2020 Oct 13. doi: 10.1038/s41598-020-73611-1
PMCID:
PMC7553962
ArticlePDF–4.0M
9.
Regulation of Intracellular Trafficking of Huntingtin-Associated Protein-1 Is Critical for TrkA Protein Levels and Neurite Outgrowth
Juan Rong, John R. McGuire, Zhi-Hui Fang, Guoqing Sheng, Ji-Yeon Shin, Shi-Hua Li, Xiao-Jiang Li
J Neurosci. 2006 May 31; 26(22): 6019–6030. doi: 10.1523/JNEUROSCI.1251-06.2006
PMCID:
PMC6675209
ArticlePDF–568K
10.
Examination of PHOX2B in Adult Neuroendocrine Neoplasms Reveals Relatively Frequent Expression in Pheochromocytomas and Paragangliomas
John P Lee, Yin P Hung, Thomas M O’Dorisio, James R Howe, Jason L Hornick, Andrew M Bellizzi
Histopathology. Author manuscript; available in PMC 2018 Oct 1.
Published in final edited form as: Histopathology. 2017 Oct; 71(4): 503–510. Published online 2017 Jul 13. doi: 10.1111/his.13243
PMCID:
PMC5597462
ArticlePDF–3.3M
11.
Clinical and Genetic Investigation of a Multi-generational Chinese Family Afflicted with Von Hippel-Lindau Disease
Jingyao Zhang, Jie Ma, Xiaoyun Du, Dapeng Wu, Hong Ai, Jigang Bai, Shunbin Dong, Qinling Yang, Kai Qu, Yi Lyu, Robert K Valenzuela, Chang Liu
Chin Med J (Engl) 2015 Jan 5; 128(1): 32–38. doi: 10.4103/0366-6999.147802
PMCID:
PMC4837816
ArticlePDF–1.1M
12.
Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency
Charlotte L Alston, James E Davison, Francesca Meloni, Francois H van der Westhuizen, Langping He, Hue-Tran Hornig-Do, Andrew C Peet, Paul Gissen, Paola Goffrini, Ileana Ferrero, Evangeline Wassmer, Robert McFarland, Robert W Taylor
J Med Genet. 2012 Sep; 49(9): 569–577. doi: 10.1136/jmedgenet-2012-101146
PMCID:
PMC3500770
ArticlePDF–708K
13.
von Hippel–Lindau disease: A clinical and scientific review
Eamonn R Maher, Hartmut PH Neumann, Stéphane Richard
Eur J Hum Genet. 2011 Jun; 19(6): 617–623. Published online 2011 Mar 9. doi: 10.1038/ejhg.2010.175
PMCID:
PMC3110036
ArticlePDF–470K
14.
Genotype–Phenotype Correlations of Pheochromocytoma in Two Large von Hippel–Lindau (VHL) Type 2A Kindreds With Different Missense Mutations
Sarah M. Nielsen, Wendy S. Rubinstein, Darcy L. Thull, Michaele J. Armstrong, Eleanor Feingold, Michael T. Stang, James R. Gnarra, Sally E. Carty
Am J Med Genet A. Author manuscript; available in PMC 2012 Jan 1.
Published in final edited form as: Am J Med Genet A. 2011 Jan; 155A(1): 168–173. doi: 10.1002/ajmg.a.33760
PMCID:
PMC3085839
ArticlePDF–445K
15.
Expression of arginine decarboxylase in brain regions and neuronal cells
Abiye H. Iyo, Meng-Yang Zhu, Gregory A. Ordway, Soundar Regunathan
J Neurochem. Author manuscript; available in PMC 2010 Aug 13.
Published in final edited form as: J Neurochem. 2006 Feb; 96(4): 1042–1050. doi: 10.1111/j.1471-4159.2005.03544.x
PMCID:
PMC2921170
ArticlePDF–923K
16.
A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C
Jennifer MJ Schreinemakers, Bernard A Zonnenberg, Jo WM Höppener, Frederik J Hes, Inne HM Borel Rinkes, Cornelis JM Lips
World J Surg Oncol. 2007; 5: 112. Published online 2007 Oct 8. doi: 10.1186/1477-7819-5-112
PMCID:
PMC2169240
ArticlePDF–252K
17.
Secretogranins I and II: two tyrosine-sulfated secretory proteins common to a variety of cells secreting peptides by the regulated pathway
J Cell Biol. 1985 Nov 1; 101(5): 1999–2011. doi: 10.1083/jcb.101.5.1999
PMCID:
PMC2113975
SummaryPDF–2.1M
18.
Expression of the splicing regulator polypyrimidine tract-binding protein in normal and neoplastic brain
Ian E. McCutcheon, Stephen J. Hentschel, Gregory N. Fuller, Wei Jin, Gilbert J. Cote
Neuro Oncol. 2004 Jan; 6(1): 9–14. doi: 10.1215/S1152851703000279
PMCID:
PMC1871971
ArticlePDF–1.7M
19.
Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA
Bora E Baysal, Elizabeth C Lawrence, Robert E Ferrell
BMC Biol. 2007; 5: 12. Published online 2007 Mar 21. doi: 10.1186/1741-7007-5-12
PMCID:
PMC1852088
ArticlePDF–384K
20.
The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system
S. Glasker, B. Bender, T. Apel, E. Natt, V. van Velthoven, R. Scheremet, J. Zentner, H. Neumann
J Neurol Neurosurg Psychiatry. 1999 Dec; 67(6): 758–762. doi: 10.1136/jnnp.67.6.758
PMCID:
PMC1736691
SummaryPDF–88K

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