Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study [PDF]
Frontiers in Genetics, 2022 Craniofacial morphogenesis is highly complex, as is the anatomical region involved. Errors during this process, resulting in orofacial clefts, occur in more than 400 genetic syndromes.
Baiba Lace +11 more
doaj +2 more sources
Educational Case: Genetic Mutations and Multifactorial Inheritance [PDF]
Academic Pathology, 2017 The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
Eric S. Suarez MD +1 more
doaj +2 more sources
Polygenic risk score for genetic evaluation of prostate cancer risk in Asian populations: A narrative review [PDF]
Investigative and Clinical Urology, 2021 Decreasing costs of genetic testing and interest in disease inheritance has changed the landscape of cancer prediction in prostate cancer (PCa), and guidelines now include genetic testing for high-risk groups.
Sang Hun Song , Seok-Soo Byun
doaj +1 more source
Prediction of clinically significant prostate cancer using polygenic risk models in Asians [PDF]
Investigative and Clinical Urology, 2022 Purpose: To develop and evaluate the performance of a polygenic risk score (PRS) constructed in a Korean male population to predict clinically significant prostate cancer (csPCa).
Sang Hun Song +10 more
doaj +1 more source
Cancer Risk Score Prediction Based on a Single-Nucleotide Polymorphism Network [PDF]
Healthcare Informatics Research, 2022 Objectives Genome-wide association studies (GWAS) are performed to study the associations between genetic variants with respect to certain phenotypic traits such as cancer. However, the method that is commonly used in GWAS assumes that certain traits are
Bharuno Mahesworo +3 more
doaj +1 more source
Multi‐omic strategies applied to the study of pharmacoresistance in mesial temporal lobe epilepsy
Epilepsia Open, 2022 Mesial temporal lobe epilepsy (MTLE) is the most common type of focal epilepsy in adults, and hippocampal sclerosis (HS) is a frequent histopathological feature in patients with MTLE.
Estela M. Bruxel +4 more
doaj +1 more source
Family environment and polygenic risk in the bipolar high‐risk context
JCPP Advances, 2023 Background The interaction of polygenic risk (PRS) and environmental effects on development of bipolar disorder (BD) is understudied, as are high‐risk offspring perceptions of their family environment (FE).
Emma K. Stapp +11 more
doaj +1 more source
Frontiers in Neurology, 2021 Parkinson disease (PD) is a complex neurodegenerative disorder, usually with multifactorial etiology. It is characterized by prominent movement disorders and non-motor symptoms.
Daniele Guadagnolo +7 more
doaj +1 more source
PLoS ONE, 2021 Amyotrophic Lateral Sclerosis (ALS) is a rare neurodegenerative disease that affects motor neurons and promotes progressive muscle atrophy. It has a multifactorial etiology, where environmental conditions playing a remarkable role through the increase of
Jéssica Barletto de Sousa Barros +7 more
doaj +1 more source
CURRENT ISSUES ON THE GENETIC IMPLICATIONS AND TREATMENT OF ANDROGENIC ALOPECIA [PDF]
Romanian Journal of Medical Practice, 2019 Androgenic alopecia is the most common form of hair loss, hair loss is progressively occurring, affecting all races. In addition to the major psychological impact and impairment of quality of life, patients with early androgenic alopecia may ...
Ana Maria Alexandra Stănescu +7 more
doaj +1 more source