Results 241 to 250 of about 114,985 (306)

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy

Annals of Neurology, EarlyView.
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul, Michael P. McDermott, Russell J. Butterfield, Bakri Elsheikh, Kate Eichinger, Nicholas E. Johnson, Doris G. Leung, Samantha LoRusso, Leann Lewis, William B. Martens, Perry B. Shieh, Leo H. Wang, Michaela Walker, Rabi Tawil, Jeffrey M. Statland, ReSolve Investigators of the FSHD‐CTRN   +15 more
wiley   +1 more source

Occupational radiation exposure indicated by increased chromosomal damage in lymphocytes of orthopaedic surgeons in Japan. [PDF]

J Radiat Res
Anderson D, Goh VST, Fujishima Y, Nakayama R, Echigoya N, Ishibashi Y, Miura T.   +6 more
europepmc   +1 more source

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

Annals of Neurology, EarlyView.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta, Angeela Poudel, Jun Yi Wang, Randi Hagerman, Glenda Espinal, Jessica Famula, Andrea Schneider, Flora Tassone, Susan M. Rivera, Chen‐Nee Chuah, David Hessl   +10 more
wiley   +1 more source

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature. [PDF]

Case Rep Genet
Abdelhamed Z, Dykas D, DiAdamo A, Chai H, Ma D, Spencer-Mazon M, Jiang YH, Wen J, Bale A, Li P, Zhang H.   +10 more
europepmc   +1 more source

Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions. [PDF]

Hum Mutat
Rraku E, Medina TD, van Ravenswaaij-Arts CMA, Slofstra MK, Swertz MA, Dijkhuizen T, Johansson LF, Engwerda A.   +7 more
europepmc   +1 more source

Genome-wide copy number profiling enhances risk stratification in multiple myeloma by shallow whole-genome sequencing. [PDF]

Blood Adv
Fang B, Zhu Z, Chang Y, He X, Li S, Li M, Yan S, Zhu D, Li Z, Mao M.   +9 more
europepmc   +1 more source

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Chromosome‐aberration tests

Food Additives & Contaminants, 1984
Three points related to the subject of chromosome-aberration tests and carcinogenicity screening are dealt with in this paper. First, the relation between chromosome rearrangements and oncogenesis is briefly discussed, to stress the relevance of cytogenetic assays to assessment of the carcinogenic potential of drugs.
openaire   +2 more sources

X Chromosome Aberrations

1999
Abstract In this chapter we consider gonadal maldevelopment caused by X-chromosome aberrations. As in Chapter 5, “gonadal maldevelopment” is defined broadly so that it includes defective spermatogenesis due to an extra X chromosome in XXY males and gonadal dysgenesis due to accelerated oocyte attrition in XO females. These two conditions,
Leonard Pinsky, Robert P Erickson, R Neil Schimke   +2 more
openaire   +1 more source

Autosomal Chromosome Aberrations

1976
Prior to the introduction of cytogenetic techniques in human medicine some 15 years ago, only a single chromosome aberration syndrome, Down’s syndrome, was known clinically, but its etiology was still unclear. By direct chromosome examination, it was later shown that the clinical picture of Down’s syndrome is caused by the presence of an additional No.
openaire   +3 more sources

Chromosomal aberrations

Mutation Research/Genetic Toxicology and Environmental Mutagenesis, 2008
Adayapalam T. Natarajan, Günter Obe, Makoto Hayashi   +2 more
  +4 more sources