Results 41 to 50 of about 10,016,032 (374)
Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation [PDF]
, 2015 Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods.
Chou, Tsui-Fen +9 more
core +4 more sources
Complexities of Clinical Genetics Consultation: An Interprofessional Clinical Skills Workshop
MedEdPORTAL, 2020 Introduction Advances in genomic medicine contribute to increased demand for clinical genetics services and require physicians to understand the interprofessional practice of this field.
Jodi D. Hoffman +3 more
doaj +1 more source
Molecular Genetics of Intracranial Meningiomas with Emphasis on Canonical Wnt Signalling. [PDF]
, 2016 Research over the last decade recognized the importance of novel molecular pathways in pathogenesis of intracranial meningiomas. In this review, we focus on human brain tumours meningiomas and the involvement of Wnt signalling pathway genes and proteins ...
Kafka, Anja +2 more
core +2 more sources
How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners. [PDF]
, 2020 Genomic technologies are having an increasing impact across medicine, including primary care. To enable their wider adoption and realize their potential, education of primary health-care practitioners will be required.
Evans, WRH +4 more
core +2 more sources
A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies
Frontiers in Cardiovascular Medicine, 2016 Titin (TTN) is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN the heart expresses two major isoforms (N2B and N2BA) that incorporate four distinct regions termed the Z-line, I-band, A-band,
Marta Gigli +9 more
doaj +1 more source
Genetics of autistic disorders : review and clinical implications [PDF]
, 2009 Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy ...
Duketis, Eftichia +4 more
core +4 more sources
Clinical genetics in cardiology [PDF]
Heart, 2006 The recent and rapid development of molecular genetics in cardiovascular diseases has created a new understanding of their pathogenesis and natural history, and also new possibilities for the diagnosis of these genetic disorders through genetic testing.
openaire +3 more sources
Retinoblastoma genetics screening and clinical management
BMC Medical Genomics, 2021 Background India accounts for 20% of the global retinoblastoma (RB) burden. However, the existing data on RB1 gene germline mutations and its influence on clinical decisions is minimally explored.
Himika Gupta +11 more
doaj +1 more source
NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]
, 2013 Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S +2 more
core +3 more sources
Genetics in Medicine, 2019 Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound ...
E. Riggs +12 more
semanticscholar +1 more source