Results 31 to 40 of about 7,785,903 (293)

Genetic counselling and family practice

South African Family Practice, 1980
No abstract available.
Johan Op't Hof
doaj   +1 more source

Community genetics. Its definition 2010 [PDF]

, 2010
This paper presents a definition of the medical field of community genetics. It starts with a brief historical overview, defines the requirements for an adequate definition, presents the definition, and discusses the constituent parts of the ...
Hamamy, H., Arnold Christianson, Ulf Kristoffersson, Lihadh Al-Gazali, Rahman, P., Jean-Jacques Cassiman, Kate, L.P., Proton Rahman, Kristoffersson, U., Victor B. Penchaszadeh, Bittles, A., Cornel, M.C., Kääriäinen, H., Christianson, A., Hanan Hamamy, Al-Gazali, L., Schmidtke, J., David Marais, Leo P. ten Kate, Jörg Schmidtke, Helena Kääriäinen, Martina C. Cornel, Anand, S., Penchaszadeh, V.B., Alan Bittles, Sonia Anand, Marais, D., Cassiman, J-J, Leo P. ten Kate, Kääriäinen, Helena, Marais, David, Penchaszadeh, Victor B., Al-Gazali, Lihadh, Cornel, Martina C., Bittles, Alan, Cassiman, Jean-Jacques, Christianson, Arnold, Schmidtke, Jörg, Rahman, Proton, Anand, Sonia, Hamamy, Hanan, ten Kate, Leo P., Kristoffersson, Ulf   +42 more
core   +1 more source

Case Report: Rothmund-Thomson syndrome type 2 in Ecuador: clinical and molecular insights into a recurrent RECQL4 variant

Frontiers in Pediatrics
This case report presents two Ecuadorian patients with Rothmund-Thomson syndrome type 2 (RTS2), an autosomal recessive disorder, who share a RECQL4 variant previously identified in another Ecuadorian patient, supporting the recurrent presence of this ...
Martina Isabella Armas Samaniego, Mateo Briones Vasquez, Mel Mariño Zambrano, Vanessa I. Romero, Vanessa I. Romero, Karen Melo, Juan Carlos Pozo-Palacios   +6 more
doaj   +1 more source

Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations

iScience, 2021
Summary: A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the GUCY2D gene is underway, and early results are summarized.
Samuel G. Jacobson, Artur V. Cideciyan, Allen C. Ho, Igor V. Peshenko, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Vivian Wu, Arun K. Krishnan, Rebecca Sheplock, Sanford L. Boye, Alexander M. Dizhoor, Shannon E. Boye   +12 more
doaj   +1 more source

Bridging the Loneliness Gap: Depression, Connectivity, and Isolation in Pediatric Oncology Patients and Their Peers

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Loneliness is associated with adverse physical and mental health outcomes and remains understudied in children and adolescents undergoing cancer therapy. Pediatric oncology patients may be at increased risk due to medical isolation and disruption of social networks.
Charlotte N. Stahlfeld, Scott H. Maurer, Michelle D. Watkinson, John Nury, Elise Barberis, Molly C. Mack   +5 more
wiley   +1 more source

Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms

iScience, 2022
Summary: We carried out a genome-wide association analysis including 51,194 cases of hypothyroidism and 443,383 controls. In total, 139 risk loci were associated to hypothyroidism with genes involved in lymphocyte function.
Samuel Mathieu, Mewen Briend, Erik Abner, Christian Couture, Zhonglin Li, Yohan Bossé, Sébastien Thériault, Tõnu Esko, Benoit J. Arsenault, Patrick Mathieu   +9 more
doaj   +1 more source

Clinical genetics in cardiology [PDF]

Heart, 2006
The recent and rapid development of molecular genetics in cardiovascular diseases has created a new understanding of their pathogenesis and natural history, and also new possibilities for the diagnosis of these genetic disorders through genetic testing.
openaire   +2 more sources

Early Body Mass Index z‐Score Change and Resolution of Severe Malnutrition in Children With Sickle Cell Anemia in a Low‐Income Setting: A Prospective Single‐Arm Extension Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Children with sickle cell anemia (SCA) in low‐income settings are at risk of severe malnutrition, but optimal nutritional management has not been established. We evaluated an intensified ready‐to‐use therapeutic food (RUTF) regimen in children with persistent severe malnutrition after initial treatment and assessed whether early ...
Safiya Gambo, Shehu Umar Abdullahi, Hassan Adam Murtala, Halima Kabir, Khadija A. Shamsu, Sari A. Acra, Virginia A. Stallings, Mark Rodeghier, Michael R. DeBaun, Lauren J. Klein   +9 more
wiley   +1 more source

Empowerment: Qualitative underpinning of a new clinical genetics-specific patient-reported outcome [PDF]

, 2010
Recent qualitative research developed a new construct labelled Empowerment describing a new patient outcome from using clinical genetics services that included four dimensions: Knowledge and Understanding, Decision-Making, Instrumentality and Future ...
Dunn, Graham, McAllister, Marion, Todd, Chris; id_orcid, Chris Todd, Graham Dunn, Todd, Chris, Marion McAllister   +6 more
core   +1 more source

Human variation in population-wide gene expression data predicts gene perturbation phenotype

iScience, 2022
Summary: Population-scale datasets of healthy individuals capture genetic and environmental factors influencing gene expression. The expression variance of a gene of interest (GOI) can be exploited to set up a quasi loss- or gain-of-function “in ...
Lorenzo Bonaguro, Jonas Schulte-Schrepping, Caterina Carraro, Laura L. Sun, Benedikt Reiz, Ioanna Gemünd, Adem Saglam, Souad Rahmouni, Michel Georges, Peer Arts, Alexander Hoischen, Leo A.B. Joosten, Frank L. van de Veerdonk, Mihai G. Netea, Kristian Händler, Sach Mukherjee, Thomas Ulas, Joachim L. Schultze, Anna C. Aschenbrenner   +18 more
doaj   +1 more source