Results 111 to 120 of about 98,067 (307)

Next-generation Sequencing and Karyotype Analysis for the Diagnosis of Robertsonian Translocation Type Trisomy 13: A Case Report

Iranian Journal of Public Health, 2017
Trisomy 13 (Patau syndrome) is the third most common autosomal trisomy with a prevalence between 1 in 10,000 - 20,000 live births. Robertsonian translocations represent the largest number of chromosomal aberrations in human population with an incidence ...
Jing SHA, Fumin LIU, Bei ZHANG, Yang HUANG, Qinglin ZHANG, Gao JUAN, Jingfang ZHAI   +6 more
doaj  

Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

Molecular Cytogenetics
Background Mesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral synostoses and multiple congenital malformations which is described as a contiguous deletion syndrome ...
Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, Carlos Roberto da Fonseca, Juan Clinton Llerena Junior, Mana Mehrjouy, Niels Tommerup, Elenice Ferreira Bastos   +6 more
doaj   +1 more source

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev   +5 more
wiley   +1 more source

Safety Evaluation of an Aqueous Root and Leaf Extract of Ashwagandha (Withania somnifera)

Phytotherapy Research, EarlyView.
Sensoril, an aqueous root and leaf extract of ashwagandha showed no evidence of mutagenicity in the in vitro Ames assay, was negative in the in vitro micronucleus, in vivo mammalian bone marrow chromosome aberration assays, and was well tolerated in the rat at up to 4000 mg/kg BW/day when administered orally for a period of 90 days. The data from these
Mukesh Summan, Candace L. Doepker, Gregory P. Brorby   +2 more
wiley   +1 more source

Micronuclei and Other Nuclear Abnormalities in Patella Limpet as Biomarkers of Cytogenotoxicity in Recreational Port Waters

Environmental Toxicology, EarlyView.
ABSTRACT Over the past decades, the growth in human population and economic activities has led to an increase in maritime traffic. This rise puts additional pressure on marine environments, vessel fuel spills being considered to have a major impact on the ecosystem.
Carlos Valiente‐Diaz, Eva Garcia‐Vazquez, Verónica Soto‐López   +2 more
wiley   +1 more source

Cytogenotoxic Effects of Fluopyram in Allium cepa Root Cells Involving Microtubule Disruption

Environmental Toxicology, EarlyView.
ABSTRACT Fluopyram is a next‐generation fungicide widely used in agriculture; however, its persistence in soils and mobility toward aquatic systems have raised concerns regarding potential ecotoxicological risks. This study evaluated the cytogenotoxic effects of a commercial fluopyram‐based pesticide formulation on Allium cepa root meristem cells ...
Carlos Filipe Camilo‐Cotrim, Natanael Alves da Silva, Gabriela Gomes Lima, Igor Rodrigues Vasconcelos, Luciana Souza Ondei, Elisa Flávia Luiz Cardoso Bailão, Antônio Sérgio Nakao de Aguiar, Marcelino Benvindo‐Souza, Leonardo Luiz Borges, Virgínia Damin, Luciane Madureira Almeida   +10 more
wiley   +1 more source

Comparative Satellitomics in Arowanas (Telostei, Osteoglossiformes) Sheds Light on the Evolution of Ancient Satellite DNAs

Integrative Zoology, EarlyView.
This work focused on arowana fishes (Teleostei, Osteoglossiformes) as a model; their widespread intercontinental distribution and basal phylogenetic position within Teleostei make them a compelling model for evolutionary research, especially in the realm of satDNA molecular evolution. Through the integration of genomic and chromosomal data, we analyzed
Fernando Henrique Santos de Souza, Gustavo Akira Toma, Jhon Alex Dziechciarz Vidal, Manuel Angel Garrido‐Ramos, Guilherme Mota Souza, Rodrigo Zeni Dos Santos, Fábio Porto‐Foresti, Thomas Liehr, Ricardo Utsunomia, Marcelo de Bello Cioffi   +9 more
wiley   +1 more source

Interventional oncology in children: Where are we now?

Journal of Medical Imaging and Radiation Oncology, EarlyView.
Abstract Paediatric Interventional Oncology (IO) lags behind adult IO due to a scarcity of specific outcome data. The suboptimal way to evolve this field is relying heavily on adult experiences. The distinct tumour types prevalent in children, such as extracranial germ cell tumours, sarcomas, and neuroblastoma, differ strongly from those found in ...
Premal Amrishkumar Patel, Fernando Gómez Muñoz   +1 more
wiley   +1 more source

Efficacy and Tolerability of Weekly Bortezomib, Lenalidomide, and Dexamethasone Protocols in Transplant‐Ineligible Newly Diagnosed Myeloma: An Australian Real‐World, Multicenter Study

Asia-Pacific Journal of Clinical Oncology, EarlyView.
RVD with weekly bortezomib dosing in real‐world newly diagnosed transplant‐ineligible myeloma shows comparable efficacy and reduced toxicity compared to twice‐weekly trial protocols. ABSTRACT Background Lenalidomide, bortezomib, and dexamethasone (RVD) remains a standard of care regimen for newly diagnosed multiple myeloma in centers without access to ...
Samantha Kurniawan, Angela Hwang, Nicole Wong Doo, Tracy King, Christian Bryant, Jennifer Zhang, Kristina Whelan, Parisa Fani‐Molky, Giselle Kidson‐Gerber, Annmarie Bosco, Nada Hamad, Gurdeep Parmar, Fiona Kwok, Sam Lai, Silvia Ling, P. Joy Ho, Georgia McCaughan, Adam Bryant   +17 more
wiley   +1 more source

Myeloablative Busulfan, Fludarabine and Melphalan Conditioning for Allogeneic Hematopoietic Stem Cell Transplantation in Childhood Myeloid Malignancy

Asia-Pacific Journal of Clinical Oncology, EarlyView.
We report our single‐center experience of transplant outcomes with a busulfan, fludarabine and melphalan‐based conditioning regimen for children < 18 years of age. The regimen was shown to be well tolerated and effective for heavily pretreated children with high‐risk myeloid malignancies prior to allogeneic hematopoietic stem cell transplant.
Mayank Dhamija, Fiona Kerr, Hazel Gough, Johnathan Soggee, Laurence C. Cheung, Rishi S. Kotecha, Shanti Ramachandran   +6 more
wiley   +1 more source