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Genetic Testing [PDF]

New England Journal of Medicine, 2003
Remarkable strides were made in the twentieth century in understanding the basis of heredity and in deciphering how the genes, the units of heredity, function.
Spanier, B. W. Marcel, Bruno, Marco J.
core   +7 more sources

Evidence‐based consensus guidelines for ALS genetic testing and counseling

Annals of Clinical and Translational Neurology, 2023
Objective Advances in amyotrophic lateral sclerosis (ALS) gene discovery, ongoing gene therapy trials, and patient demand have driven increased use of ALS genetic testing. Despite this progress, the offer of genetic testing to persons with ALS is not yet
Jennifer Roggenbuck, Breda H. F. Eubank, Joshua Wright, Matthew B. Harms, Stephen J. Kolb, the ALS Genetic Testing and Counseling Guidelines Expert Panel   +5 more
doaj   +2 more sources

Association Between Diet-Related Inflammation and COPD: Findings From NHANES III

Frontiers in Nutrition, 2021
Background and Aims: Little is known about diet-related inflammation in chronic obstructive pulmonary disease (COPD). In this study, we aimed to explore the association between COPD and dietary inflammatory index (DII) scores in adults over 40 years old ...
Haiyue Liu, Haiyue Liu, Xilan Tan, Zuheng Liu, Xiaobo Ma, Xiaobo Ma, Yanqing Zheng, Yanqing Zheng, Bo Zhu, Bo Zhu, Gangsen Zheng, Gangsen Zheng, Yuehong Hu, Yuehong Hu, Lili Fang, Lili Fang, Guolin Hong, Guolin Hong   +17 more
doaj   +1 more source

Adoption of Compound Echocardiography under Artificial Intelligence Algorithm in Fetal Congenial Heart Disease Screening during Gestation

Applied Bionics and Biomechanics, 2022
This research was aimed at exploring the diagnostic and screening effect of composite echocardiography based on the artificial intelligence (AI) segmentation algorithm on fetal congenital heart disease (CHD) during pregnancy, so as to reduce the birth ...
Guowei Han, Tianliang Jin, Li Zhang, Chen Guo, Hua Gui, Risu Na, Xuesong Wang, Haihua Bai   +7 more
doaj   +1 more source

Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters

Molecular Genetics & Genomic Medicine, 2021
Background The rapid spread of genome‐wide next‐generation sequencing in the molecular diagnosis of rare genetic disorders has produced increasing evidence of multilocus genomic variations in cases with a previously well‐characterized molecular diagnosis.
Leonardo Gatticchi, Dominika Vešelényiová, Jan Miertus, Paolo Enrico Maltese, Elena Manara, Alisia Costantini, Sabrina Benedetti, Darina Ďurovčíková, Juraj Krajcovic, Matteo Bertelli   +9 more
doaj   +1 more source

A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report

Frontiers in Oncology, 2023
The widespread adoption of gene panel testing for cancer predisposition is leading to the identification of an increasing number of individuals with clinically relevant allelic variants in two or more genes.
Mara Colombo, Patrizia Mondini, Elisa Minenza, Claudia Foglia, Annamaria Mosconi, Carmen Molica, Lorenza Pistola, Vienna Ludovini, Paolo Radice   +8 more
doaj   +1 more source

Attitude toward genetic testing for cancer risk in Istanbul

, 2004
To identify attitudes toward genetic testing, and the effects of this information on decisions regarding issues such as pregnancy, abortion, and prophylactic surgery, several subsets of the Turkish Population were surveyed in hospital settings ...
BASARAN, Gülcan, TOPAL, A, ALIUSTAOGLU, M, GUMUS, Müjde Dila, TURHAL, NS, Ekenel, MELTEM, YUMUK, PF   +6 more
core   +3 more sources

A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient

Molecular Cytogenetics, 2017
Background Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content.
Siying Liang, Nan Jiang, Shuo Li, Xiaohu Jiang, Dongyi Yu   +4 more
doaj   +1 more source

Downregulation by CNNM2 of ATP5MD expression in the 10q24.32 schizophrenia-associated locus involved in impaired ATP production and neurodevelopment

npj Schizophrenia, 2021
Genome-wide association studies (GWAS) have accelerated the discovery of numerous genetic variants associated with schizophrenia. However, most risk variants show a small effect size (odds ratio (OR)
Zhongju Wang, Yongchang Zhu, Linyan Ye, Qiyang Li, Bo Guo, Hao Zhao, Xiuqin Bao, Qiqi Zhuo, Tengfei Yang, Zhaoqiang Li, Shufen Li, Bingtao Hao, Cunyou Zhao   +12 more
doaj   +1 more source

Diagnostic Value of Vaginal Microecology, Serum miR-18a, and PD-L1 for Identifying HPV-Positive Cervical Cancer

Technology in Cancer Research & Treatment, 2021
Objective: We aimed to investigate the diagnostic value of the vaginal microecology, serum miR-18a, and programmed death ligand-1 (PD-L1) for human papillomavirus (HPV)-positive cervical cancer.
Yumei Zhang, Sujuan Qiu, Yueli Guo, Jiaqin Zhang, Xiaoqing Wu, Guolin Hong   +5 more
doaj   +1 more source