Results 11 to 20 of about 7,785,903 (293)

What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis. [PDF]

Eur J Hum Genet
Risk exists throughout medicine. Understanding health system pressure points permits implementation of controls for risk reduction. The literature lacks a systematic approach to risk evaluation in Clinical Genetics.
Lambert DM, Stewart H, Bandiola M, Bertoli M, Butterly D, Kuismin O, Moilanen J, Rea G, Streata I, Griffin A, McGrath V, Behan D, Coen N, King S, Kilroe E, Ward AJ, Lynch SA.   +16 more
europepmc   +2 more sources

Impact of NICE Guideline NG241 'Ovarian Cancer: identifying and managing familial and genetic risk' on a regional NHS family history and clinical genetics service. [PDF]

J Med Genet
BACKGROUND: NICE Guideline NG241: identifying and managing familial and genetic risk of ovarian cancer (OC) was published by the National Institute for Health and Care Excellence (NICE) in March 2024.
Roe A, Forman A, Lalloo F, McVeigh TP, Hanson H, Snape K.   +5 more
europepmc   +2 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, Glenn M. Chertow, Katalin Susztak, Adeera Levin, Rajiv Agarwal, Peter Stenvinkel, Arlene B. Chapman, Bradley A. Warady   +7 more
doaj   +2 more sources

Clinical genetics in Britain: origins and development [PDF]

, 2010
Clinical genetics has become a major medical specialty in Britain since its beginnings with Lionel Penrose’s work on mental handicap and phenylketonuria (PKU) and John Fraser Robert’s first genetic clinic in 1946.
Harper, PS, Reynolds, LA, Tansey, EM
core   +6 more sources

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core   +4 more sources

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, XU Kexin, WU Zhihong, ZHANG Jianguo, QIU Guixing, WU Nan   +5 more
doaj   +1 more source

A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders

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, Amelle Shillington, Amelle Shillington, Martine Lamy, Martine Lamy, Kelli C. Dominick, Kelli C. Dominick, Michael Sorter, Michael Sorter, Craig A. Erickson, Craig A. Erickson, Robert Hopkin, Robert Hopkin   +12 more
doaj   +1 more source

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, Mary Koenig, Laura Farach, Pedro Mancias, Kate Mowrey   +4 more
doaj   +1 more source

LncRNA-Top: Controlled deep learning approaches for lncRNA gene regulatory relationship annotations across different platforms

iScience, 2023
Summary: By soaking microRNAs (miRNAs), long non-coding RNAs (lncRNAs) have the potential to regulate gene expression. Few methods have been created based on this mechanism to anticipate the lncRNA-gene relationship prediction.
Weidun Xie, Xingjian Chen, Zetian Zheng, Fuzhou Wang, Xiaowei Zhu, Qiuzhen Lin, Yanni Sun, Ka-Chun Wong   +7 more
doaj   +1 more source

Genetics in clinical oncology [PDF]

The Indian Journal of Pediatrics, 1982
This is the first book to provide a thorough grounding in the applications of genetics to cancer medicine, enabling the clinician to convey to patients and their families an understanding of the genetic nature of cancer, and to provide them with accurate advice.
openaire   +2 more sources