Results 111 to 120 of about 237,732 (314)

Mapping of Multiple DNA Gains and Losses in Primary Small Cell Lung Carcinomas by Comparative Genomic Hybridization [PDF]

, 1994
Comparative genomic hybridization was applied for a comprehensive screening of under- and overrepresentation of genetic material in 13 autoptic small cell lung cancer specimens.
Speicher, Michael R., Cremer, Thomas, Petersen, Iver, Ried, Thomas, Manoir, Stanislas du, Schröck, Evelin, Holtgreve-Grez, Heidi   +6 more
core  

Linkage mapping of ovine microphthalmia to chromosome 23, the sheep orthologue of human chromosome 18

, 2007
PURPOSE: To characterize the phenotype and map the locus responsible for autosomal recessive inherited ovine microphthalmia (OMO) in sheep. METHODS: Microphthalmia-affected lambs and their available relatives were collected in a field, and experimental ...
Ganter, Martin, Müller, Gundi, Drögemüller, Cord, Tetens, Jens   +3 more
core   +1 more source

On the regulation of chromosome segregation in human cells : implications of Bub1 Kinase inhibition during cell division [PDF]

, 2015
The maintenance of correct chromosome number (euploidy) during cell division is essential for health. Loss of euploidy is observed in most cancers and is linked to tumorigenesis.
Baron, Anna
core   +1 more source

Chromosomal Localization of Candidate Genes for Fiber Growth and Color in Alpaca (Vicugna pacos)

Frontiers in Genetics, 2019
The alpaca (Vicugna pacos) is an economically important and cultural signature species in Peru. Thus, molecular genomic information about the genes underlying the traits of interest, such as fiber properties and color, is critical for improved breeding ...
Mayra N. Mendoza, Terje Raudsepp, Fahad Alshanbari, Gustavo Gutiérrez, F. Abel Ponce de León   +4 more
doaj   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Comparative gene mapping in Arabidopsis lyrata chromosomes 1 and 2 and the corresponding A. thaliana chromosome 1: recombination rates, rearrangements and centromere location [PDF]

, 2006
To add detail to the genetic map of Arabidopsis lyrata, and compare it with that of A. thaliana, we have developed many additional markers in the A. lyrata linkage groups, LG1 and LG2, corresponding to A. thaliana chromosome 1.
Preuss, S, Charlesworth, D, Hansson, B, Kawabe, A, Kuittinen, H   +4 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Quantitative Trait Loci Affecting Milk Production Traits in Finnish Ayrshire Dairy Cattle

, 2003
A whole genome scan of Finnish Ayrshire was conducted tomap quantitative trait loci (QTL) affecting milk production. The analysis included 12 half-sib families containing a total of 494 bulls in a granddaughter design.
Virta, J, Virta, A, Kinos, R., Virta, A., Viitala, Sirja M., Viitala, S.M., de Koning, D. J., Vilkki, J H, Mäki-Tanila, Asko, Viitala, S M, Mäki-Tanila, A, Schulman, N F, Kinos, R, Vilkki, J. H., Schulman, Nina F., Elo, Kari, Viitala, S. M., Elo, K, Kinos, Riikka, Koning, D.J., de, Vilkki, Johanna, de Koning, D J, de Koning, Dirk-Jan, Virta, Anneli, Elo, K., Schulman, N. F., Virta, J., Schulman, N.F., Vilkki, J.H., Virta, Jouni, Mäki-Tanila, A., de Koning, D.J.   +31 more
core   +1 more source