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 …
predictive biomarkers. Data Sources Published manuscripts and textbook chapters …
The many lives of KATs—detectors, integrators and modulators of the cellular environment
Research over the past three decades has firmly established lysine acetyltransferases
(KATs) as central players in regulating transcription. Recent advances in genomic …
(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
Abstract In October 2016, the American Association for Cancer Research held a meeting of
international childhood cancer predisposition syndrome experts to evaluate the current …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
children. Depending on histopathology, anatomic location, and genomic factors, specific …