Results 91 to 100 of about 10,250,216 (364)

A view on clinical genetics and genomics in Spain: of challenges and opportunities

open access: yesMolecular Genetics & Genomic Medicine, 2016
A view on clinical genetics and genomics in Spain: of challenges and opportunities.
T. Pàmpols   +5 more
semanticscholar   +1 more source

Lifestyle Behaviors and Cardiotoxic Treatment Risks in Adult Childhood Cancer Survivors

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Higher doses of anthracyclines and heart‐relevant radiotherapy increase cardiovascular disease (CVD) risk. This study assessed CVD and CVD risk factors among adult childhood cancer survivors (CCSs) across cardiotoxic treatment risk groups and examined associations between lifestyle behaviors and treatment risks.
Ruijie Li   +6 more
wiley   +1 more source

Calcium Release Deficiency Syndrome (CRDS): Rethinking “Atypical” Catecholaminergic Polymorphic Ventricular Tachycardia

open access: yesCardiogenetics
Since the first description of catecholaminergic polymorphic ventricular tachycardia (CPVT) in the 1970s, new insights have progressively unraveled the understanding of this inherited arrhythmia syndrome.
Alessandra P. Porretta   +2 more
doaj   +1 more source

Patient reported outcomes and patient empowerment in clinical genetics services

open access: yesClinical Genetics, 2015
Evaluation of clinical genetics services (CGS), including genetic counseling and genetic testing, has been problematic. Patient mortality and morbidity are unlikely to be directly improved by interventions offered in CGS. Patient‐reported outcomes (PROs)
M. McAllister, Audrey Dearing
semanticscholar   +1 more source

Cerebrospinal Fluid Liquid Biopsy Enables Targeted Therapy Without Tissue Diagnosis in Pediatric Low‐Grade Gliomas With BRAF V600E Mutation

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT We present two pediatric cases of pediatric low‐grade gliomas (PLGG) with BRAF V600E mutations diagnosed and monitored using cerebrospinal fluid (CSF) liquid biopsy analyzed via digital droplet PCR (ddPCR), without tissue biopsy. Both patients were treated with dabrafenib and trametinib and monitored through clinical assessments, magnetic ...
Hannah Sultan   +5 more
wiley   +1 more source

Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" [PDF]

open access: yes, 2016
open11openBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, NicolettaBukvic, Nenad; Boaretto ...
Boaretto, Francesca   +10 more
core   +1 more source

APOL1 Nephropathy: From Genetics to Clinical Applications.

open access: yesAmerican Society of Nephrology. Clinical Journal, 2020
Rates of many types of severe kidney disease are much higher in blacks than most other groups. Much of this disparity can now be attributed to genetic variants in the apoL1 (APOL1) gene found only in individuals with recent African ancestry.
D. Friedman, M. Pollak
semanticscholar   +1 more source

Changes in Body Composition in Children and Young People Undergoing Treatment for Acute Lymphoblastic Leukemia: A Systematic Review and Meta‐Analysis

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Ongoing evidence indicates increased risk of sarcopenic obesity among children and young people (CYP) with acute lymphoblastic leukemia (ALL), often beginning early in treatment, persisting into survivorship. This review evaluates current literature on body composition in CYP with ALL during and after treatment.
Lina A. Zahed   +5 more
wiley   +1 more source

Genetics and genomic medicine in Sri Lanka

open access: yesMolecular Genetics & Genomic Medicine, 2019
The completion of the Human Genome Project in 2003 heralded in a new era marked by remarkable advances in biomedical research leading to the establishment of genomics‐based translational medicine mainly in the developed world. However, the development of
Nirmala D. Sirisena   +1 more
doaj   +1 more source

Impact of pathogen genetics on clinical phenotypes in a population ofTalaromyces marneffeifrom Vietnam [PDF]

open access: green, 2023
Poppy Sephton-Clark   +7 more
openalex   +1 more source

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