Results 11 to 20 of about 884,084 (316)

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
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Human genetics of meningococcal infections [PDF]

, 2020
Neisseria meningitidis is a leading cause of bacterial septicaemia and meningitis worldwide. Meningococcal disease is rare but can be life threatening with a tendency to affect children.
Sancho-Shimizu, Vanessa, Levin, Michael, Herberg, Jethro A, Hodeib, Stephanie   +3 more
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Genotoxicity of 22% Carbamide Peroxide Bleaching Agent on Oral Cells using the Micronucleus Technique [PDF]

Journal of Clinical and Diagnostic Research, 2020
Introduction: Several bleaching products and methods were introduced over the last years. However, the consequences of 22% carbamide peroxide on the genetic material of oral mucosal cells is uncertain.
Laís Vargas Bonacina, Carolina do Amaral Vargas, Julia Vanini, Júlia Zandoná, Rodrigo Rohenkohl Silvlva, Carmen Silvlvia Busin, Paula Benetti, João Paulo De Carli   +7 more
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The Opportunities and Challenges of Integrating Population Histories Into Genetic Studies for Diverse Populations: A Motivating Example From Native Hawaiians

Frontiers in Genetics, 2021
There is a well-recognized need to include diverse populations in genetic studies, but several obstacles continue to be prohibitive, including (but are not limited to) the difficulty of recruiting individuals from diverse populations in large numbers and
Charleston W. K. Chiang, Charleston W. K. Chiang   +1 more
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Comparative expression analysis of Shox2-deficient embryonic stem cell-derived sinoatrial node-like cells

Stem Cell Research, 2017
The homeodomain transcription factor Shox2 controls the development and function of the native cardiac pacemaker, the sinoatrial node (SAN). Moreover, SHOX2 mutations have been associated with cardiac arrhythmias in humans.
Sandra Hoffmann, Stefanie Schmitteckert, Anne Griesbeck, Hannes Preiss, Simon Sumer, Alexandra Rolletschek, Martin Granzow, Volker Eckstein, Beate Niesler, Gudrun A. Rappold   +9 more
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Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations

HGG Advances, 2023
Summary: Transcriptome prediction models built with data from European-descent individuals are less accurate when applied to different populations because of differences in linkage disequilibrium patterns and allele frequencies.
Daniel S. Araujo, Chris Nguyen, Xiaowei Hu, Anna V. Mikhaylova, Chris Gignoux, Kristin Ardlie, Kent D. Taylor, Peter Durda, Yongmei Liu, George Papanicolaou, Michael H. Cho, Stephen S. Rich, Jerome I. Rotter, Hae Kyung Im, Ani Manichaikul, Heather E. Wheeler   +15 more
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Genetics and Human Malformations [PDF]

Journal of Craniofacial Surgery, 2009
Genetics gains more and more importance in all areas of health care including craniofacial surgery and dentistry. This does not mean that every patient will benefit from genetic advances, but for many health problems, we will see progress in explaining disease pathogenesis, establishing diagnosis, guiding therapy, predicting prognosis, and achieving ...
Gabriele, Mues, Hitesh, Kapadia, Ying, Wang, Rena N, D'Souza   +3 more
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Editorial: Topical ethical issues in the publication of human genetics research [PDF]

, 2020
This is the pre-peer reviewed version of the following article: Curtis, D. and Balloux, F. (2020), Editorial: Topical ethical issues in the publication of human genetics research. Annals of Human Genetics, 84: 313-314.
Balloux, F, David Curtis, François Balloux, Curtis, D   +3 more
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BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype

Molecular Genetics & Genomic Medicine, 2021
Background Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. Based on the patients’ phenotypes, brachydactylies have been subdivided into 10 subtypes.
Marcin Bednarek, Marek Trybus, Monika Kolanowska, Mateusz Koziej, Beata Kiec‐Wilk, Artur Dobosz, Marta Kotlarek‐Łysakowska, Anna Kubiak‐Dydo, Ewelina Użarowska‐Gąska, Julia Staręga‐Rosłan, Paweł Gaj, Izabela Górzyńska, Katarzyna Serwan, Michał Świerniak, Adam Kot, Krystian Jażdżewski, Anna Wójcicka   +16 more
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Human Genetic Diseases [PDF]

BioMed Research International, 2015
There is no question that the rapid advance in genetic technology is changing our viewpoint on medical practice, which is dramatically improving the diagnosis, prognosis, and therapy of human genetic disease. In particular, the next-generation sequencing (NGS) technologies, such as exome sequencing and whole-genome sequencing, and gene editing ...
Hao Deng, Peter Riederer, Han-Xiang Deng, Weidong Le, Wei Xiong, Yi Guo   +5 more
openaire   +2 more sources