Results 51 to 60 of about 11,000,947 (301)

Family-Based Benchmarking of Copy Number Variation Detection Software. [PDF]

PLoS ONE, 2015
The analysis of structural variants, in particular of copy-number variations (CNVs), has proven valuable in unraveling the genetic basis of human diseases.
Marcel Elie Nutsua, Annegret Fischer, Almut Nebel, Sylvia Hofmann, Stefan Schreiber, Michael Krawczak, Michael Nothnagel   +6 more
doaj   +1 more source

Tandem repeat copy-number variation in protein-coding regions of human genes [PDF]

, 2005
BACKGROUND: Tandem repeat variation in protein-coding regions will alter protein length and may introduce frameshifts. Tandem repeat variants are associated with variation in pathogenicity in bacteria and with human disease.
O'Dushlaine, Colm T., Edwards, Richard, Park, Stephen D., Richard J Edwards, Colm T O'Dushlaine, Denis C Shields, Shields, Denis C., Stephen D Park   +7 more
core   +1 more source

Ewing Sarcoma in Infants and Children Under 2 Years of Age: A French Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Ewing sarcoma, the second most common primary bone cancer in children, requires intensive treatment that may lead to significant long‐term sequelae, particularly in infants. We retrospectively analyzed data from 1621 French patients treated between 1988 and 2015 within the EW88/93/97 or EE99 trials, focusing on 17 infants diagnosed before 24 ...
Elodie Verdier, Nathalie Cozic, Marie‐Dominique Tabone, Gaelle Pierron, Perrine Marec‐Berard, Sarah Winter, Gabriel Revon‐Rivière, Cyril Lervat, Dominique Plantaz, Marie‐Pierre Castex, Gregory Guimard, Estelle Thebaud, Stephanie Proust, Laure Saumet, Natacha Entz‐Werle, Sophie Taque, Cécile Vérité, Marta Jimenez, Nathalie Gaspar   +18 more
wiley   +1 more source

Genetics of autistic disorders : review and clinical implications [PDF]

, 2009
Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy ...
Klauck, Sabine M., Duketis, Eftichia, Wouter Staal, Sabine M. Klauck, Christine M. Freitag, Regina Waltes, Freitag, Christine M., Staal, Wouter, Waltes, Regina, Eftichia Duketis   +9 more
core   +1 more source

CoNVaQ: a web tool for copy number variation-based association studies

BMC Genomics, 2018
Background Copy number variations (CNVs) are large segments of the genome that are duplicated or deleted. Structural variations in the genome have been linked to many complex diseases.
Simon Jonas Larsen, Luisa Matos do Canto, Silvia Regina Rogatto, Jan Baumbach   +3 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

Comparative genomics in chicken and Pekin duck using FISH mapping and microarray analysis [PDF]

, 2009
BACKGROUND: The availability of the complete chicken (Gallus gallus) genome sequence as well as a large number of chicken probes for fluorescent in-situ hybridization (FISH) and microarray resources facilitate comparative genomic studies between ...
Ioannou, D., Völker, Martin, Robertson, Lindsay, Langley, Elizabeth J, Robertson, Lindsay BW, Tempest, Helen G, Skinner, Benjamin M., Tempest, Helen G., Tempest, H., Völker, M., Skinner, M., Crooijmans, Richard P.M.A., Hall, Anthony D, Fowler, K., Skinner, Benjamin M, Robertson, L.B., Crooijmans, Richard PMA, Skinner, B., Fowler, Katie E., Griffin, Darren K, Langley, E.J., Crooijmans, R.P.M.A., Griffin, D., Hall, A., Robertson, L., Tempest, H.G., Ioannou, Dimitris, Fowler, K.E., Crooijmans, R., Griffin, Darren K., Langley, E.   +30 more
core   +1 more source

Copy number variation goes clinical [PDF]

Genome Biology, 2009
A report of the First Golden Helix Symposium 'Copy Number Variation (CNV) and Genomic Alterations in Health and Disease', Athens, Greece, 28-29 November 2008.
Le Caignec, Cédric, Redon, Richard
openaire   +2 more sources

Beyond the Document: A Single‐Center Qualitative Study of Survivorship Care Plan Barriers and Opportunities Across Pediatric Oncology Stakeholders

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survivorship care plans (SCPs) summarize cancer treatment and guide risk‐based follow‐up for cancer survivors, yet remain difficult to create, share, and use. Stakeholder perspectives are needed to inform usable approaches.
Molly S. Talman, Emma Fleisher, Megan E. Salwei, Debra Friedman, Laurie Novak   +4 more
wiley   +1 more source

Structural insights into an engineered feruloyl esterase with improved MHET degrading properties

FEBS Letters, EarlyView.
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa, Konstantinos Makryniotis, Theofani‐Iosifina Sousani, Evangelos Topakas, Vangelis Daskalakis, Maria Dimarogona   +5 more
wiley   +1 more source