Genotype-Phenotype Correlations
MYH9-related disease: A novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations
... 15 thrombocytopenia plus early and aggressive nephropathy and deafness. Some drugs, such as ACE-inhibitors or angiotensin receptor blockers, were suggested to be effective in reducing MYH9-RD proteinuria and slowing down ...
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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 ...
10
Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis
... examined genotype-phenotype correlations of CNVs, connectivity of these novel variants with BA-associated CVs, and their role in the BA candidate gene ...
9
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
... clinical phenotype did not ap- pear to be related to a specific mutation site within the protein ...possible genotype-phenotype correlations, we analyzed the allelic frequency of the common ...
9
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 ...
8
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
... Genotype–phenotype correlations in the kidney have been studied for X-linked AS disease [15, 16]; however, there are fewer studies regarding the human inner ear in ...
11
Nucleation of protein aggregation kinetics as a basis for genotype-phenotype correlations in polyglutamine diseases
... In genotype-phenotype correlations, each polyQ disease shows a characteristic threshold of CAG-repeat length [3,4]. SCA6 arises from a relatively small expansion with as few as 21 repeats. This ...
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Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome
... the phenotype of PHTS we could not demonstrate any such correlation, except a lower frequency of thyroid cancer in patients with missense mutations, compared with non-missense ...concerning ...
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Mutational spectrum of the APC and MUTYH genes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients
... and genotype-phenotype correlations The following clinical and pathological data were obtained from all families from the Hereditary Colorectal Cancer Registry of ...families. ...
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Next generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations
... for genotype–phenotype correlations within families of the patients with ...included. Genotype‑positive probands (n = 18) showed shorter mean event free survival (41 years, CI 35–46) than ...
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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
... There are evident genotype-phenotype correlations in EXOSC3 -mediated PCH reflected in clinical outcome, age of death and pons hypoplasia: patients with a homozygous p.D132A mutation hav[r] ...
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Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations
... ASD phenotype and its genetic bases in ...The genotype- phenotype correlations here underscore the complexity of examining the role of deleted genetic material and the need of having a more ...
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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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Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency
... deletion sizes were associated with a greater number of dysmorphic features and medical comorbidities. In addition, a correlation between larger deletion sizes and social communication impairments associated with autism ...
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Genetic Heterogeneity of PKD1 and PKD2 Genes in Iran and Determination of the Genotype/Phenotype Correlations in Several Families with Autosomal Dominant Polycystic Kidney Disease
... and genotype/phenotype correlations were deduced from the constructed ...the genotype/phenotype correlations, we have focused on our patient’s phenotype and found that ...
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A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K
... Background: The ganglioside-induced differentiation-associated protein 1 gene (GDAP1), which is involved in the Charcot-Marie-Tooth disease (CMT), the most commonly inherited peripheral neuropathy, encodes a protein ...
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Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders
... Few data are available concerning genotype-phenotype correlations in FPD/AML families. Michaud et al. [32] proposed that mutations with dominant-negative effect are associated with higher propensity ...
15
PAX6 molecular analysis and genotype phenotype correlations in families with aniridia from Australasia and Southeast Asia
... extension variants, and in-frame insertions or deletions [13]. The majority of sequence variants associated with isolated aniridia are loss of function variants (nonsense, splice, frameshift variants, and in-frame ...
13
Fabry Disease: Twenty Novel α-Galactosidase A Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes
... These studies provided additional genotype– phenotype information for Fabry disease. Most of the affected males described had the classic pheno- type. Although the age of onset and/or severity of the ...
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Genotype-phenotype correlations in FSHD
... Interestingly, the frequency of pathogenic contraction of the D4Z4 array on the 4qA haplotype is approxi- mately 1 – 2% [ 29 , 39 ] in the population of healthy individuals, which can be[r] ...
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