Correlation between NF1 genotype and imaging phenotype on whole-body MRI

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis

Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and ...

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild ...

Whole-body imaging with PET/MRI.

Whole-body positron emission tomography (PET) scanning with the radiolabeled glucose analogue 2-[fluorine-18]-fluoro-2-deoxy-D-glucose ( superset 18 F-FDG) can identify areas of cancerous involvement and distinguish malignant from benign lesions and therefore, plays an important role in the diagnosis and management of patients with cancer. PET facilitates the evaluation of metabolic and molecul...

MRI Composing for Whole Body Imaging

Whole-body magnetic resonance imaging is an emerging application gaining vast clinical interest during the last years. Although recent technological advances shortened the longish acquisition time, this is still the limiting factor avoiding its wide-spread clinical usage. The acquisition of images with large field-of-view helps to relieve this drawback, but leads to significantly distorted imag...