High-resolution DNA melting analysis for simple and efficient molecular diagnostics

GH Reed, JO Kent, CT Wittwer - Pharmacogenomics, 2007 - Taylor & Francis
High-resolution melting of DNA is a simple solution for genotyping, mutation scanning and
sequence matching. The melting profile of a PCR product depends on its GC content, length …

Multiple osteochondromas

JVMG Bovée - Orphanet journal of rare diseases, 2008 - Springer
Multiple osteochondromas (MO) is characterised by development of two or more cartilage
capped bony outgrowths (osteochondromas) of the long bones. The prevalence is estimated …

High-resolution DNA melting analysis in clinical research and diagnostics

JL Montgomery, LN Sanford… - Expert review of molecular …, 2010 - Taylor & Francis
Among nucleic acid analytical methods, high-resolution melting analysis is gaining more
and more attention. High-resolution melting provides simple, homogeneous solutions for …

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)

I Jennes, E Pedrini, M Zuntini, M Mordenti… - Human …, 2009 - Wiley Online Library
Multiple osteochondromas (MO) is an autosomal dominant skeletal disease characterized
by the formation of multiple cartilage‐capped bone tumors growing outward from the …

Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of “protective” and “risk” factors

E Pedrini, I Jennes, M Tremosini, A Milanesi… - JBJS, 2011 - journals.lww.com
Background: Multiple hereditary exostoses is an autosomal dominant skeletal disorder
characterized by wide variation in clinical phenotype. The aim of this study was to evaluate …

Hereditary multiple exostoses and enchondromatosis

S Pannier, L Legeai-Mallet - Best practice & research Clinical rheumatology, 2008 - Elsevier
Hereditary multiple exostoses (HME) is an autosomal-dominant disorder characterized by
the development of benign tumours, multiple osteochondromas (exostoses), growing …

Hereditary multiple exostoses—a review of the molecular background, diagnostics, and potential therapeutic strategies

E Bukowska-Olech, W Trzebiatowska, W Czech… - Frontiers in …, 2021 - frontiersin.org
Hereditary multiple exostoses (HMEs) syndrome, also known as multiple osteochondromas,
represents a rare and severe human skeletal disorder. The disease is characterized by …

Mutation scanning using high-resolution melting

CF Taylor - Biochemical Society Transactions, 2009 - portlandpress.com
Mutation scanning techniques are used to detect sequence variants without the need for
prior knowledge of the identity or precise location of the variant, in contrast with genotyping …

Assessing high‐resolution melt curve analysis for accurate detection of gene variants in complex DNA fragments

EA Tindall, DC Petersen, P Woodbridge… - Human …, 2009 - Wiley Online Library
Mutation detection has, until recently, relied heavily on the use of gel‐based methods that
can be both time consuming and difficult to design. Nongel‐based systems are therefore …

[HTML][HTML] Current mutation discovery approaches in Retinitis Pigmentosa

A Anasagasti, C Irigoyen, O Barandika, AL de Munain… - Vision research, 2012 - Elsevier
With a worldwide prevalence of about 1 in 3500–5000 individuals, Retinitis Pigmentosa
(RP) is the most common form of hereditary retinal degeneration. It is an extremely …