Results 41 to 50 of about 5,198,783 (315)

A new mutation for Cantu's syndrome

Journal of Education, Health and Sport, 2022
Introduction: Cantu syndrome is one of the rare genetic syndromes. Formally, there are no diagnostic criteria for Cantu syndrome, but given the characteristic appearance and reproducible features in people with a mutation in the ABCC9 gene, there is a ...
Julia Bargieł, Justyna Cabaj, Agata Tarkowska   +2 more
doaj   +1 more source

Global Efforts to Reduce Paediatric Cancer Care Disparities in Radiotherapy: A Decade Change

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background We present an update on the status, needs and challenges faced by paediatric imaging and radiotherapy (RT) programmes globally after a previous survey conducted by the International Atomic Energy Agency (IAEA) 10 years prior. Methods We developed and distributed a 121‐question survey to radiation oncologists, medical physicists and ...
Raymond B. Mailhot Vega, Daniel J. Indelicato, Jeanette Parkes, Natia Esiashvili, Josué Hernández Benítez, Miriam Mikhail‐Lette, Olivera Cirajc Bjelac, Daniel Berger, Eva Ciurana, Yavuz Anacak, Lisbeth Cordero‐Mendez   +10 more
wiley   +1 more source

The value of genome-wide analysis in craniosynostosis

Frontiers in Genetics
Background: This study assessed the diagnostic yield of high-throughput sequencing methods in a cohort of craniosynostosis (CS) patients not presenting causal variants identified through previous targeted analysis.Methods: Whole-genome or whole-exome ...
Alexandra Topa, Alexandra Topa, Anna Rohlin, Anna Rohlin, André Fehr, André Fehr, Lovisa Lovmar, Göran Stenman, Göran Stenman, Peter Tarnow, Giovanni Maltese, Madiha Bhatti-Søfteland, Lars Kölby   +12 more
doaj   +1 more source

Access and Rights to Genetic Resources: A Nordic Approach (II)

, 2023
In 2003, the Nordic Council of Ministers issued the report “Access and Rights to Genetic Resources: A Nordic Approach”. Considering the international framework developed on access to genetic resources and benefit sharing from its use, the report and the ...
Nordic Genetic Resource Centre, NordGen
core   +3 more sources

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

Genetic Samples and Genetic Philanthropy

AMA Journal of Ethics, 2004
Genetic research is threatened by lack of samples, and public policy should be developed to encourage public participation. Virtual Mentor is a monthly bioethics journal published by the American Medical Association.
Michael E, Berens, Gary E, Marchant
openaire   +2 more sources

Genetic divergence, heritability and genetic advance in mutant lines of urdbean [Vigna mungo (L.) Hepper]

, 2017
Twenty six mutant lines of urdbean [Vigna mungo (L) Hepper] were analyzed for genetic diversity using Mahalanobis D2 statistics. Based on twelve important agronomic characters, the genotypes were grouped into 4 clusters.
Urdbean ., Heritability ., Genetic Diversity, Genetic Advance   +3 more
core   +1 more source

Genetic analysis of environmental variation [PDF]

, 2010
Environmental variation (V-E) in a quantitative trait - variation in phenotype that cannot be explained by genetic variation or identifiable genetic differences - can be regarded as being under some degree of genetic control. Such variation may be either
HAN A. MULDER, Hill, William G., WILLIAM G. HILL, Mulder, H.A., Mulder, Han A., Hill, W.G.   +5 more
core   +1 more source

Survival After Hematopoietic Stem Cell Transplantation in Diamond–Blackfan Anemia Syndrome: The Role of Iron Overload—A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We assessed the effect of iron overload (IO) on mortality and complications following hematopoietic stem cell transplantation (HSCT) in patients with Diamond–Blackfan anemia syndrome (DBAS) in a systematic review of individual participant data and cohort data from observational studies.
Geoffrey Z. L. Kuppens, Evangelia Kiakou, Lieke de Zwart, Maurizio Miano, Eduard J. van Beers, Marc Bierings, Marije Bartels   +6 more
wiley   +1 more source

Genetic modification and genetic determinism.

Philosophy, ethics, and humanities in medicine : PEHM, 2006
In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism.
Vorhaus Daniel B, Resnik David B
openaire   +3 more sources