Epidemiology and overview of gliomas

ME Davis - Seminars in oncology nursing, 2018 - Elsevier
Objective To present an overview of gliomas, review risk factors, and prognostic and
predictive biomarkers. Data Sources Published manuscripts and textbook chapters …

The many lives of KATs—detectors, integrators and modulators of the cellular environment

BN Sheikh, A Akhtar - Nature Reviews Genetics, 2019 - nature.com
Research over the past three decades has firmly established lysine acetyltransferases
(KATs) as central players in regulating transcription. Recent advances in genomic …

Recommendations for cancer surveillance in individuals with RASopathies and other rare genetic conditions with increased cancer risk

A Villani, MLC Greer, JM Kalish, A Nakagawara… - Clinical Cancer …, 2017 - AACR
Abstract In October 2016, the American Association for Cancer Research held a meeting of
international childhood cancer predisposition syndrome experts to evaluate the current …

[PDF][PDF] Main genetic entities associated with supernumerary teeth

F Cammarata-Scalisi, A Avendaño… - Arch Argent …, 2018 - SciELO Argentina
Supernumerary teeth represent a common human dental anomaly, defined as presence of
extra teeth-more than the normal number foreseen in primary or permanent dentition. The …

Rubinstein–Taybi syndrome in diverse populations

C Tekendo‐Ngongang, B Owosela… - American Journal of …, 2020 - Wiley Online Library
Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss‐of‐
function variants in CREBBP or EP300. Affected individuals present with distinctive …

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review

P Pavone, SY Cho, AD Praticò, R Falsaperla… - Medicine, 2018 - journals.lww.com
Blepharoptosis (ptosis) is a common but often overlooked sign that may serve as a
sign/manifestation of other conditions, ranging from a mild and purely cosmetic presentation …

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

M López, A García-Oguiza, J Armstrong… - BMC medical …, 2018 - Springer
Abstract Background Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant
neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused …

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

G Negri, P Magini, D Milani, M Crippa, E Biamino… - Human Genetics, 2019 - Springer
Rubinstein–Taybi syndrome (RSTS) is an autosomal-dominant neurodevelopmental
disease affecting 1: 125,000 newborns characterized by intellectual disability, growth …

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

V Pérez‐Grijalba, A García‐Oguiza… - … Genetics & Genomic …, 2019 - Wiley Online Library
Abstract Background Rubinstein‐Taybi syndrome (RSTS) is a rare congenital disorder
characterized by broad thumbs and halluces, intellectual disability, distinctive facial features …

Germline genetic landscape of pediatric central nervous system tumors

IS Muskens, C Zhang, AJ de Smith, JA Biegel… - Neuro …, 2019 - academic.oup.com
Central nervous system (CNS) tumors are the second most common type of cancer among
children. Depending on histopathology, anatomic location, and genomic factors, specific …