Results 201 to 210 of about 13,351 (224)

Retinoma: An overview

Pediatric Investigation, EarlyView.
Retinoma, a benign tumor caused by biallelic retinoblastoma gene (RB1) inactivation, offers key insights into retinoblastoma development and oncogenesis. This review explores its molecular genetics, clinical features, diagnosis, management, and potential implications for advancing the prevention and treatment of retinoblastoma.
Panagiotis Toumasis, Ashwin Mallipatna, Timothy W. Corson, Helen Dimaras   +3 more
wiley   +1 more source

Incidental Brain Metastases From Prostate Cancer Diagnosed With PSMA PET/CT and MRI: A Case Series and Literature Review

The Prostate, EarlyView.
ABSTRACT Background Brain metastases (BMETS) from prostate cancer are rare. Hence, brain imaging in neurologically asymptomatic patients with advanced prostate cancer (aPC) is not routinely performed. Prostate‐specific membrane antigen (PSMA) PET/CT uses a radiotracer that binds to prostate cancer epithelial cells and is FDA‐approved for initial ...
Mark Willy L. Mondia, Prem P. Batchala, Robert Dreicer, Michael E. Devitt, Matthew R. McCord, Melike Mut, Jason P. Sheehan, David Schiff, Camilo E. Fadul   +8 more
wiley   +1 more source

Multiple Scalp and Neck Lesions in an 80‐Year‐Old Man

JEADV Clinical Practice, EarlyView.
Stephanie L. Ryan, Nicholas Stefanovic, Li J. H. Yoo, Richard Watchorn, Christian Gulmann, Gregg Murray   +5 more
wiley   +1 more source

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Minisatellite instability and germline mutation

Cellular and Molecular Life Sciences (CMLS), 1999
Tandem-repeat DNA actively turns over in the genome by a variety of poorly understood dynamic mechanisms. Minisatellites, a class of tandem repeats, have been shown to cause disease by influencing gene expression, modifying coding sequences within genes or generating fragile sites.
Bois, P, Jeffreys, AJ
openaire   +4 more sources

Germline mutations in lung cancer

Respiratory Investigation, 2019
Genetic testing for alterations in oncogenic driver genes has become essential and standard in the clinical practice of the treatment of lung cancer. Germline mutations potentially predisposing patients to lung cancer are rare; however, with the introduction of next-generation sequencing in the clinical practice of lung cancer, the identification of ...
Takehito Shukuya, Takehito Shukuya, Kazuhisa Takahashi   +2 more
openaire   +2 more sources

Germline FH Mutations Presenting With Pheochromocytoma

The Journal of Clinical Endocrinology & Metabolism, 2014
Abstract Context: At least a third of the patients with pheochromocytoma (PCC) or paraganglioma (PGL) harbor an underlying germline mutation in a known PCC/PGL gene. Mutations in genes (SDHB, SDHD, SDHC, and SDHA) encoding a component of the tricarboxylic acid cycle, succinate dehydrogenase (SDH), are
Clark, Graeme R., Sciacovelli, Marco, Gaude, Edoardo, Walsh, Diana M., Kirby, Gail, Simpson, Michael A., Trembath, Richard C., Berg, Jonathan N., Woodward, Emma R., Kinning, Esther, Morrison, Patrick J., Frezza, Christian, Maher, Eamonn R.   +12 more
openaire   +4 more sources

CDKN2A (p16INK4A) somatic and germline mutations

Human Mutation, 1996
The cell cycle is composed of a series of steps that can be negatively or positively regulated by various factors. A group of low-molecular-weight proteins have recently been identified that specifically inhibit the function of cyclin-dependent kinases in mammalian cells.
Eivind Hovig, Birgitte Smith-Sørensen
openaire   +3 more sources

Germline p16 mutations in familial melanoma [PDF]

Nature Genetics, 1994
The p16 gene is located in chromosome 9p21, a region that is linked to familial melanoma and homozygously deleted in many tumour cell lines. We describe eight p16 germline substitutions (one nonsense, one splice donor site and six missense) in 13/18 familial melanoma kindreds.
Margaret A. Tucker, Delphine S. Ally, Alisa M. Goldstein, Wallace H. Clark, Nicholas C. Dracopoli, Michelle D. Sheahan, Christopher J. Hussussian, Jeffery P. Struewing, Paul A. T. Higgins   +8 more
openaire   +2 more sources

Germline APC mutations in hepatoblastoma

Pediatric Blood & Cancer, 2017
AbstractBackgroundConflicting reports on the frequency of germline adenomatous polyposis coli (APC) gene mutations in patients with hepatoblastoma (HB) have called into question the clinical value of APC mutation testing on apparently sporadic HB.MethodsAn Institutional Review Board approved retrospective review of clinical data collected from patients
Adeline Yang, Rebecca Sisson, Anita Gupta, Greg Tiao, James I. Geller   +4 more
openaire   +2 more sources

Germline and somatic mutations in meningiomas

Cancer Genetics, 2015
Meningiomas arise from the arachnoid layer of the meninges that surround the brain and spine. They account for over one third of all primary central nervous system tumors in adults and confer a significant risk of location-dependent morbidity due to compression or displacement.
openaire   +4 more sources