Results 161 to 170 of about 542,507 (360)

Rapid and Sensitive Detection of UGT1A1 Polymorphisms Associated with Irinotecan Toxicity by a Novel DNA Microarray

, 2020
Ryouichi Tsunedomi
openalex   +2 more sources

Genome-wide discovery of DNA polymorphisms by whole genome sequencing differentiates weedy and cultivated rice [PDF]

, 2018
Chenglin Chai, Rama Shankar, Mukesh Jain, Prasanta K. Subudhi   +3 more
openalex   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos, Tatiane Carinta de Souza, Kaio Evandro Cardoso Aguiar, Ana Caroline Alves da Costa, Natasha Monte, Juliana Carla Gomes Rodrigues, Giovanna Gilioli da Costa Nunes, Rita de Cássia Calderaro Coelho, Ândrea Ribeiro‐dos‐Santos, André Maurício Ribeiro dos Santos, Sandro José de Souza, Sidney Emanuel Batista dos Santos, Rommel Mario Rodriguez Burbano, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +14 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Study of DNA Polymorphism at -Lactoglobulin Locus in Jamunapari and BarbariGoats

, 2015
Iosr Journals, Vinita Singh, S. Herbert, Neeraj Neeraj, Rampal Singh, Aparajita Mukharjee   +5 more
openalex   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Pharmacogenetic aspects of eprosartan therapy and polymorphic markers of renin-angiotensin-aldosterone system genes in Uzbek patients with essential arterial hypertension

Кардиоваскулярная терапия и профилактика, 2009
Aim. To investigate antihypertensive and anti-remodeling effects of eprosartan in Uzbek patients with essential arterial hypertension (AH), taking into consideration renin-angiotensin-aldosterone system genetic polymorphism.Material and methods.
D. R. Kurbanova, N. Z. Srozhidinova, N. B. Tursunova, M. R. Eliseeva   +3 more
doaj  

RNA-RNA, DNA-DNA, and DNA-RNA Polymorphism

Biophysical Journal, 1986
Arnott, Struther, Chandrasekaran, R., Millane, R.P., Park, H.-S.   +3 more
openaire   +2 more sources

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

Annals of Neurology, EarlyView.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi, Claudia Marina Vargiu, Brian S. Appleby, Marcelo Barria, Giuseppe Mario Bentivenga, Ignazio Calì, Benedetta Carlà, Mark Cohen, Armin Giese, Jochen Herms, Aino‐Minerva Kortelainen, Anna Ladogana, Angela Mammana, Diane Ritchie, Otto Windl, Sabina Capellari, Piero Parchi   +16 more
wiley   +1 more source