Phenotype and genotype correlations (Chapter 6)
Fabry Disease: Twenty Novel α-Galactosidase A Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes
... possible phenotype–genotype correlations, mutation analysis of the -Gal A gene was performed in 40 unrelated Fabry ...variant phenotype were identified, thereby providing addi- tional ...
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PAX6 mutations: genotype-phenotype correlations
... common of these malformations is aniridia, which is chiefly characterised by congenital absence of the iris, but which also affects the cornea, lens and retina. PAX6 muta- tions also cause a range of non-aniridia ...
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Genotype-phenotype Correlations in Darier Disease - a Focus on the Neuropsychiatric Phenotype
... potential correlations between mutation type (LGD vs PA) and neuropsychiatric phenotypes among 75 unrelated individuals with ...examining genotype- phenotype correlations with neuropsychiatric ...
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Genotype-phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype
... potential correlations between mutation type (LGD vs PA) and neuropsychiatric phenotypes among 75 unrelated individuals with ...examining genotype- phenotype correlations with neuropsychiatric ...
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Genotype phenotype correlations of amyotrophic lateral sclerosis
... respective genotype-phenotype correlation has important implications for the genetic ...possible genotype-phenotype correlations of ...
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Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia
... Senthil Senniappan 1 , Atefeh Sadeghizadeh 2* , Sarah E Flanagan 3 , Sian Ellard 3 , Mahin Hashemipour 4 , Majid Hosseinzadeh 5 , Mansour Salehi 6 and Khalid Hussain 7,8 Abstract Background: Hyperinsulinaemic ...
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Genotype-phenotype correlations in recessive RYR1-related myopathies
... clinical phenotype, disease severity, and long term prog- ...examining genotype-phenotype correlations in a cohort of 106 patients with recessive RYR1 ...of genotype-phenotype ...
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Usher syndrome type IIa Genotype-phenotype correlations and hearing
... genetiC diagnosis During the first appointment of a hearing impaired patient at an ENT outpatient clinic, the physician will differentiate between an acquired cause, such as infection, ototoxic drugs or loud sound ...
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The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
... There is a higher than expected incidence of parkinsonism in ALS patients with C9ORF72 expansions, and the G 4 C 2 repeat has also been reported in other motor phenotypes, such as primary lateral sclerosis, progressive ...
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Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome
... Published online: 11 August 2013 Ó Springer Science+Business Media Dordrecht 2013 Abstract Patients with germline PTEN mutations are at high risk of developing benign and malignant tumours. We aimed to evaluate the ...
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Genetic diagnosis in Lafora disease: Genotype–phenotype correlations and diagnostic pitfalls
... Results. A de novo heterozygous c.406C ¡ T muta- tion in exon 4 of the LGI1/Epitempin gene, resulting in an arginine to tryptophan substitution at position 136 (Arg136Trp), was detected by denaturing high- performance ...
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Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
... We studied 25 DM1 families, a total of 46 individuals, among which 35 were diagnosed with a CTG repeat expansion. Clinical and molecular data were available on a total of 26 affected individuals for analysis of ...
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Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies
... The genetic heterogeneity and phenotypic variability in MKS have hindered the development of an evidence- based strategy for genetic diagnosis. To facilitate the process of genetic diagnosis for families, the unequivocal ...
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Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
... SPG7 cases have mild cerebellar atrophy and none had severe atrophy (table 2). The increased T2 signal from the dentate nucleus in SPG7 cases compared to controls has not been previously reported. The dentate nucleus is ...
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Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dube syndrome
... possible phenotype differences between 5‘and ...if genotype-phenotype correlations exist with respect to the intragenic position of ...
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Nucleation of protein aggregation kinetics as a basis for genotype-phenotype correlations in polyglutamine diseases
... We have successfully established the common quantita- tive connection among polyQ diseases between the nucle- ation kinetics based on polyQ sequence and the repeat- length-dependent age-of-onset, implicating nucleation ...
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Neurovascular Manifestations in Hereditary Hemorrhagic Telangiectasia: Imaging Features and Genotype Phenotype Correlations
... HHT genotype-pheno- type correlation studies demonstrated an association between en- doglin mutation and brain AVMs, 11-13 though more recent studies have demonstrated that brain AVMs can be present with all HHT ...
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A Large Cohort Study of Genotype and Phenotype Correlations of Beta- Thalassemia in Iranian Population
... No mutation was detected in 0.5% of β-thal alleles (n=4) neither by ARMS-PCR nor direct sequencing. However, two samples of them revealed anti 3.7 ααα through performing related PCR. Therefore, just a value of 0.25% of ...
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Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis
... We termed a CNV as a BA-CNV in the manuscript if it was not found in the reference dataset (11,943 DGV sam- ples, and the 1,381 Chinese samples), which was defined technically as a CNV that did not overlap with >50% ...
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Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations
... Autoinflammatory diseases (AIDs) are a genetically heterogeneous group of diseases caused by mutations of genes encoding proteins, which play a pivotal role in the regulation of the inflammatory response. In the ...
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