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Age at diagnosis of pheochromocytoma differs according to catecholamine phenotype and tumor location

G Eisenhofer, HJ Timmers, JWM Lenders… - Journal of Clinical …, 2011 - Endocrine Soc
... Among patients without evidence of hereditary disease, tumors showing both increased plasma
concentrations of metanephrine (>61 pg/ml) and relative increases of metanephrine above the
cut-off (>5%) were designated as those with appreciable epinephrine production (ie ...
Cited by 2 - Related articles - All 3 versions

[PDF] Altered Methylation at MicroRNA-Associated CpG Islands in Hereditary and Sporadic Carcinomas: MS-MLPA-Based Approach

[PDF] from molmed.orgW Pavicic, E Perkiö, S Kaur… - … medicine (Cambridge, Mass …, 2011 - molmed.org
... gastric vs. endometrial), MMR-proficiency vs. deficiency, and sporadic vs. hereditary
disease. In particular, ... status, and sporadic vs. hereditary disease The 9 miRNA loci
each of which showed a predominant pattern of alterations in Fig. ...
Cited by 1 - Related articles - View as HTML - All 3 versions

Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

[PDF] from mit.eduY Erlich, S Edvardson, E Hodges, S Zenvirt… - Genome …, 2011 - genome.cshlp.org
Whole exome sequencing has become a pivotal methodology for rapid and cost-effective detection
of pathogenic variations in Mendelian disorders. A major challenge of this approach is determining
the causative mutation from a substantial number of bystander variations that do not play ...
Cited by 5 - Related articles - All 8 versions

Optogenetic approaches to restoring visual function in retinitis pigmentosa

V Busskamp… - Current Opinion in Neurobiology, 2011 - Elsevier
... Available online 25 June 2011. Retinitis pigmentosa is a hereditary eye disease that
affects photoreceptors and leads to blindness. The ... Retinitis pigmentosa is a hereditary
disease of photoreceptors that causes blindness. ► The ...
Related articles - All 2 versions

Distrophinopathy: A rare cause of elevated transaminase in newborn

[PDF] from pjms.com.pkBA Dorum, I Silfeler, Y Canbak… - Pak J Med Sci April-June, 2011 - pjms.com.pk
... Muscular dystrophy is a rare hereditary disease compared to other disease causing
elevation of transaminase. ... Muscular dystro- phy is a group of hereditary disease affecting
many systems, as well as muscular and skeletal systems. ...
Related articles - All 2 versions

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