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Hirschsprung disease, associated syndromes and genetics: a review
Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment, which stands as a model for genetic disorders with complex patterns of inheritance.
MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients.
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa
A previously unreported gene, EYS, at the RP25 locus on chromosome 6q12 commonly mutated in autosomal recessive retinitis pigmentosa is identified and is likely to have a role in the modeling of retinal architecture.
Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
The hypothesis of EYS being the first prevalent gene in arRP has been reinforced and the identification of 73 sequence variations in EYS is reported, confirming a major involvement of Eys in the pathogenesis of arRP in the Spanish population.
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
- M. M. Abd El-Aziz, C. O'Driscoll, S. Bhattacharya
- Biology, MedicineInvestigative ophthalmology & visual science
- 1 August 2010
The results further the initial hypothesis that EYS is a major causative gene for recessive RP and emphasize the role of different types of mutations in disrupting the function of EYS.
Specific polymorphisms in the RETproto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression
Polymorphisms in theRET proto-oncogene appear to predispose to HSCR in a complex, low penetrance fashion and may also modify phenotypic expression.
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.