Prevalence and functionality of paucimorphic and privateMC4Rmutations in a large, unselected European British population, scanned by meltMADGE

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes

1986 • 4,785 citations

Human non-synonymous SNPs: server and survey

2002 • 2,270 citations

Role of melanocortinergic neurons in feeding and the agouti obesity syndrome

1997 • 1,891 citations

Antagonism of Central Melanocortin Receptors in Vitro and in Vivo by Agouti-Related Protein

1997 • 1,835 citations

Clinical Spectrum of Obesity and Mutations in the Melanocortin 4 Receptor Gene

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Anatomy and regulation of the central melanocortin system

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Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

2000 • 896 citations

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency

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1987 • 491 citations

Several Mutations in the Melanocortin-4 Receptor Gene Including a Nonsense and a Frameshift Mutation Associated with Dominantly Inherited Obesity in Humans

1999 • 439 citations

Binge Eating as a Major Phenotype of Melanocortin 4 Receptor Gene Mutations

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Length-independent separation of DNA restriction fragments in two-dimensional gel electrophoresis

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UTRdb and UTRsite: specialized databases of sequences and functional elements of 5' and 3' untranslated regions of eukaryotic mRNAs

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Relation of fetal and infant growth to plasma fibrinogen and factor VII concentrations in adult life.

1992 • 259 citations

Cohort Profile: The Hertfordshire Cohort Study

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Melanocortin-4 Receptor Gene Variant I103 Is Negatively Associated with Obesity

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Identification and functional analysis of novel human melanocortin-4 receptor variants.

1999 • 198 citations

UTRdb and UTRsite: specialized databases of sequences and functional elements of 5' and 3' untranslated regions of eukaryotic mRNAs. Update 2002

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Electrophoresis for Genotyping: Microtiter Array Diagonal Gel Electrophoresis on Horizontal Polyacrylamide Gels, Hydrolink, or Agarose

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Melanocortin 4 Receptor Sequence Variations Are Seldom a Cause of Human Obesity: The Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis Cohort

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Molecular screening of the human melanocortin-4 receptor gene: identification of a missense variant showing no association with obesity, plasma glucose, or insulin

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Detection of point mutations by capillary electrophoresis in liquid polymers in temporal thermal gradients

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Manual 768 or 384 well microplate gel 'dry' electrophoresis for PCR checking and SNP genotyping

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Association between offspring birth weight and atherosclerosis in middle aged men and women: British Regional Heart Study

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Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

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SNP Genotyping by Combination of 192-Well MADGE, ARMS and Computerized Gel Image Analysis

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Mutation Detection and Mutation Databases

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Experience applying light typerTM methodology to human SNPs relevant to growth and cardiovascular risk

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