Non-canonical DNA structures: Diversity and disease association

A Bansal, S Kaushik, S Kukreti - Frontiers in genetics, 2022 - frontiersin.org
A complete understanding of DNA double-helical structure discovered by James Watson
and Francis Crick in 1953, unveil the importance and significance of DNA. For the last seven …

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

RJ Torres, JG Puig - Orphanet journal of rare diseases, 2007 - Springer
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn
error of purine metabolism associated with uric acid overproduction and a continuum …

[图书][B] Thompson & Thompson Genetics in Medicine E-Book: Thompson & Thompson Genetics in Medicine E-Book

RL Nussbaum, RR McInnes, HF Willard - 2015 - books.google.com
Updated to reflect the newest changes in genetics, Thompson & Thompson's Genetics in
Medicine returns as one of the most favored texts in this fascinating and rapidly evolving …

DNA typing and genetic mapping with trimeric and tetrameric tandem repeats.

A Edwards, A Civitello, HA Hammond… - American journal of …, 1991 - ncbi.nlm.nih.gov
Tandemly reiterated sequences represent a rich source of highly polymorphic markers for
genetic linkage, mapping, and personal identification. Human trimeric and tetrameric short …

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

YH Fu, A Pizzuti, RG Fenwick Jr, J King, S Rajnarayan… - Science, 1992 - science.org
Synthetic oligonucleotides containing GC-rich triplet sequences were used in a scanning
strategy to identify unstable genetic sequences at the myotonic dystrophy (DM) locus. A …

Preparation and application of new monosized polymer particles

J Ugelstad, A Berge, T Ellingsen, R Schmid… - Progress in Polymer …, 1992 - Elsevier
Preparation and application of new monosized polymer particles - ScienceDirect Skip to
main contentSkip to article Elsevier logo Journals & Books Search RegisterSign in View PDF …

New dye-labeled terminators for improved DNA sequencing patterns

BB Rosenblum, LG Lee, SL Spurgeon… - Nucleic acids …, 1997 - academic.oup.com
We have used two new dye sets for automated dye-labeled terminator DNA sequencing.
One set consists of four, 4, 7-dichlororhodamine dyes (d-rhodamines). The second set …

Detection of clinically relevant exonic copy‐number changes by array CGH

PM Boone, CA Bacino, CA Shaw, PA Eng… - Human …, 2010 - Wiley Online Library
Array comparative genomic hybridization (aCGH) is a powerful tool for the molecular
elucidation and diagnosis of disorders resulting from genomic copy‐number variation …

Mutator phenotypes in human colorectal carcinoma cell lines.

NP Bhattacharyya, A Skandalis… - Proceedings of the …, 1994 - National Acad Sciences
Recent studies have revealed that tumors in patients with hereditary nonpolyposis colon
cancer are associated with high-frequency alterations of microsatellite sequences. To …

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

JA Rothnagel, AM Dominey, LD Dempsey, MA Longley… - Science, 1992 - science.org
Epidermolytic hyperkeratosis is a hereditary skin disorder characterized by blistering and a
marked thickening of the stratum corneum. In one family, affected individuals exhibited a …