Results 11 to 20 of about 591,252 (334)
Mosaicism in clinical genetics [PDF]
Molecular Case Studies, 2021 Genetic mosaicism is the state in which there are two or more different sets of cells in a single individual because of one or more postzygotic mutations, and its importance in clinical genetics has long been recognized (Hall, Am J Hum Genet43: 355 [1988]). In this Perspective, a paper in this special issue on mosaicism from Cook et al.
Mefford HC.
openaire +3 more sources
Emerging Role of Clinical Genetics in CKD [PDF]
Kidney Medicine, 2022 Chronic kidney disease (CKD) afflicts 15% of adults in the United States, of whom 25% have a family history. Genetic testing is supportive in identifying and possibly confirming diagnoses of CKD, thereby guiding care.
Prasad Devarajan +7 more
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Complexities of Clinical Genetics Consultation: An Interprofessional Clinical Skills Workshop [PDF]
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
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Analysis of Gene-Environment Interactions Related to Developmental Disorders
Frontiers in Pharmacology, 2022 Various genetic and environmental factors are associated with developmental disorders (DDs). It has been suggested that interaction between genetic and environmental factors (G × E) is involved in the etiology of DDs.
Yuhei Nishimura +2 more
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Frontiers in Genetics, 2022 Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for ...
Amelle Shillington +12 more
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Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives
Molecular Genetics & Genomic Medicine, 2020 Background With the implementation of a research project providing whole genome sequencing (WGS) to all pediatric cancer patients in Denmark (2016–2019), we sought to investigate healthcare professionals' views on WGS as it was actively being implemented
Anna Byrjalsen +3 more
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A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration
Molecular Genetics & Genomic Medicine, 2021 Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogenic variants in C19orf12.
Stuart Fraser +4 more
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The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases
罕见病研究, 2023 Deep phenotyping is a precise and comprehensive approach used for the precise analysis and comprehensive assessment of multi-system phenotypes of the patients.
LI Guozhuang +5 more
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Rare genetic variants: making the connection with breast cancer susceptibility
AIMS Genetics, 2015 The practice of clinical genetics in the context of breast cancer predisposition has reached another critical point in its evolution. For the past two decades, genetic testing offered to women attending clinics has been limited to BRCA1 and BRCA2 unless ...
Tú Nguyen-Dumont +3 more
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The Experience of a Tertiary Reference Hospital in the Study of Rare Neurological Diseases
Medicina, 2023 Background and Objectives: Rare diseases (RDs) are life-threatening or chronically impairing conditions that affect about 6% of the world’s population. RDs are often called ‘orphan’ diseases, since people suffering from them attract little support from ...
Styliani-Aggeliki Sintila +16 more
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