Results 1 to 10 of about 6,918,895 (258)

Long-Read Sequencing Emerging in Medical Genetics [PDF]

Frontiers in Genetics, 2019
The wide implementation of next-generation sequencing (NGS) technologies has revolutionized the field of medical genetics. However, the short read lengths of currently used sequencing approaches pose a limitation for the identification of structural ...
Tuomo Mantere, Tuomo Mantere, Simone Kersten, Simone Kersten, Simone Kersten, Alexander Hoischen, Alexander Hoischen, Alexander Hoischen   +7 more
doaj   +2 more sources

Double heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report

Revista de la Facultad de Ciencias Médicas de Córdoba, 2022
Introduction: Cancer is the second leading cause of death worldwide, with 70% of cancer deaths occurring in low- or middle- income countries. To mitigate the mortality of this disease, it is recommended the evaluation of multiple high-penetrance genes.
Enrique Eduardo Sánchez Castro, Gonzalo Ziegler-Rodriguez, María del Carmen Castro Mujica   +2 more
doaj   +1 more source

Genetic resources and genetic technologies for the development of the Northern Territories: on the results of the Second Conference (March 13–15, 2023)

Биотехнология и селекция растений, 2023
A series of events in honor of the centenary of the Polar Experiment Station of VIR founded by Nikolay Ivanovich Vavilov, was opened by the Second Scientific Conference “Genetic Resources and Genetic Technologies for the Development of Northern ...
E. K. Khlestkina, Yu. V. Ukhatova, L. Yu. Shipilina, A. A. Zavarzin   +3 more
doaj   +1 more source

Immune-mediated genesis of multiple sclerosis

Journal of Translational Autoimmunity, 2020
Multiple sclerosis (MS) is widely acknowledged to be an autoimmune disease affecting the neuronal myelin structure of the CNS. Autoantigens recognized as the target of this autoimmune process are: myelin basal protein, anti-proteolipid protein ...
Salvatore Cavallo, MD, Specialist in Medical Genetics
doaj   +1 more source

MLPA analysis - application in the diagnostic activity of the medical geneticist [PDF]

, 2020
The article is mainly focused on physicians (hospital clinicians, family doctors) without specific experience in medical genetics, whose patients present with a probable genetic condition.
Stoyanova, Milena; Medical University of Varna, Hachmeriyan, Mari; Medical University of Varna, Chervenkov, Trifon; Medical University of Varna, Iotova, Violeta; Medical University of Varna, Georgieva, Miglena; Medical University of Varna, Angelova, Lyudmila; Medical University of Varna, Levkova, Maria; Medical University of Varna, Trifon Chervenkov, Lyudmila Angelova, Maria Levkova, Mari Hachmeriyan, Miglena Georgieva, Violeta Iotova, Milena Stoyanova   +13 more
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Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing

Frontiers in Neurology, 2023
IntroductionRare neurodevelopmental disorders, including inherited white matter disorders or leukodystrophies, often present a diagnostic challenge on a genetic level given the large number of causal genes associated with a range of disease subtypes ...
Stefanie Perrier, Stefanie Perrier, Kether Guerrero, Kether Guerrero, Luan T. Tran, Luan T. Tran, Mackenzie A. Michell-Robinson, Mackenzie A. Michell-Robinson, Geneviève Legault, Geneviève Legault, Geneviève Legault, Bernard Brais, Bernard Brais, Bernard Brais, Michel Sylvain, James Dorman, James Dorman, Michelle Demos, Wolfgang Köhler, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard   +28 more
doaj   +1 more source

Current State of Compulsory Basic and Clinical Courses in Genetics for Medical Students at Medical Faculties in Balkan Countries With Slavic Languages

Frontiers in Genetics, 2022
Introduction: In this study we aimed to perform the first research on the current state of compulsory basic and clinical courses in genetics for medical students offered at medical faculties in six Balkan countries with Slavic languages (Bosnia and ...
Nina Pereza, Nina Pereza, Rifet Terzić, Dijana Plaseska-Karanfilska, Olivera Miljanović, Olivera Miljanović, Ivana Novaković, Željka Poslon, Željka Poslon, Saša Ostojić, Saša Ostojić, Borut Peterlin   +11 more
doaj   +1 more source

Discovery of TBX20 as a Novel Gene Underlying Atrial Fibrillation

Biology, 2023
Atrial fibrillation (AF), the most prevalent type of sustained cardiac dysrhythmia globally, confers strikingly enhanced risks for cognitive dysfunction, stroke, chronic cardiac failure, and sudden cardiovascular demise.
Ning Li, Yan-Jie Li, Xiao-Juan Guo, Shao-Hui Wu, Wei-Feng Jiang, Dao-Liang Zhang, Kun-Wei Wang, Li Li, Yu-Min Sun, Ying-Jia Xu, Yi-Qing Yang, Xing-Biao Qiu   +11 more
doaj   +1 more source

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   +4 more sources

The European Society of Human Genetics-Young committee- activities and achievements between 2019-2022

, 2023
The European Society of Human Genetics-Young Committee (ESHG-Y) aims to support young human geneticists by developing strategies and programs for better education and creating a strong network in all European countries.
Avram, Elena, da Silva, Ana Raquel Gouveia Freitas, Tonini, Francesca, Committee, European Society of Human Genetics-Young, Săbău, Ileana Delia, Kalantari, Silvia, Cerqueira, Juliana Xavier de Miranda, de Miranda Cerqueira, Juliana Xavier, Dore, Rhys, Ding, Can, Noor, Nuru, Mroczek, Magdalena, -, -, Johari, Mridul, Sabau, Ileana-Delia, Barbosa-Matos, Rita   +15 more
core   +1 more source