The Huntington's disease candidate region exhibits many different haplotypes
ME MacDonald, A Novelletto, C Lin, D Tagle… - Nature …, 1992 - nature.com
Abstract Analysis of 78 Huntington's disease (HD) chromosomes with multi–allele markers
revealed 26 different haplotypes, suggesting a variety of independent HD mutations. The …
revealed 26 different haplotypes, suggesting a variety of independent HD mutations. The …
Wolf-Hirschhorn (4p-) syndrome
A Battaglia, JC Carey, TJ Wright - Advances in pediatrics, 2001 - Elsevier
Wolf-Hirschhorn syndrome (WHS) is a well-known congenital malformation syndrome
caused by deletion of the short arm of chromosome 4 (4p-). In spite of more than 100 …
caused by deletion of the short arm of chromosome 4 (4p-). In spite of more than 100 …
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
ME MacDonald, CM Ambrose, MP Duyao, RH Myers… - Cell, 1993 - cell.com
The Huntington's disease (HD) gene has been mapped in 4p16. 3 but has eluded
identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small …
identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small …
Evidence for the organization of chromatin in megabase pair-sized loops arranged along a random walk path in the human G0/G1 interphase nucleus.
H Yokota, G Van Den Engh, JE Hearst… - The Journal of cell …, 1995 - rupress.org
We determined the folding of chromosomes in interphase nuclei by measuring the distance
between points on the same chromosome. Over 25,000 measurements were made in G0/G1 …
between points on the same chromosome. Over 25,000 measurements were made in G0/G1 …
[图书][B] Pulsed field gel electrophoresis: a practical guide
B Birren, E Lai - 2012 - books.google.com
Pulsed Field Gel Electrophoresis: A Practical Guide is the first laboratory manual to describe
the theory and practice of this technique. Based on the authors' experience developing …
the theory and practice of this technique. Based on the authors' experience developing …
Estimating genomic distance from DNA sequence location in cell nuclei by a random walk model
G Van den Engh, R Sachs, BJ Trask - Science, 1992 - science.org
The folding of chromatin in interphase cell nuclei was studied by fluorescent in situ
hybridization with pairs of unique DNA sequence probes. The sites of DNA sequences …
hybridization with pairs of unique DNA sequence probes. The sites of DNA sequences …
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region
TJ Wright, DO Ricke, K Denison… - Human molecular …, 1997 - academic.oup.com
Wolf-Hirschhorn syndrome (WHS) is a multiple malformation syndrome characterised by
mental and developmental defects resulting from the absence of a segment of one …
mental and developmental defects resulting from the absence of a segment of one …
Psychological costs and benefits of predictive testing for Huntington's disease
AM Codori, J Brandt - American journal of medical genetics, 1994 - Wiley Online Library
The impact of predictive genetic testing for Huntington's disease (HD) was assessed in 68
persons at high (n= 17) or low risk (n= 51) for the disease at one to six years following …
persons at high (n= 17) or low risk (n= 51) for the disease at one to six years following …
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion
D Wieczorek, M Krause, F Majewski… - European Journal of …, 2000 - nature.com
We performed clinical, cytogenetic, and molecular analyses on 13 patients (8 females and 5
males, aged 6 months to 13 years) with Wolf-Hirschhorn syndrome due to de novo deletions …
males, aged 6 months to 13 years) with Wolf-Hirschhorn syndrome due to de novo deletions …
A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4
LM Thompson, S Plummer, M Schalling, MR Altherr… - Genomics, 1991 - Elsevier
The gene responsible for Huntington disease (HD), an autosomal dominant
neurodegenerative disorder, is located near the terminus of the short arm of chromosome 4 …
neurodegenerative disorder, is located near the terminus of the short arm of chromosome 4 …