genotype phenotype correlation
Clinical Characteristics and Genotype Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy
... Purpose: Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neu- ron disease characterized by proximal muscle weakness, muscle atrophy, and fas- ciculation. Although SBMA is not uncommon in Korea, there is ...
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Genotype-phenotype correlation in Pompe disease, a step forward
... that genotype-phenotype correlation is strict, meaning that biallelic mutations able to completely abolish protein function cause the classic infantile Pompe disease, while the presence of at least ...
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Clinical features and genotype phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis
... pure phenotype with early onset and the complicated phenotype with later onset ...any genotype-phenotype correlation as demon- strated in other types of ADHSP ...
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Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype phenotype correlation
... unique phenotype characterized by chronic progressive polyneuropathy and myopathy without hepatic or cardiac ...novel genotype-phenotype correlation in TFP deficiency; that is, mutations in ...
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Genotype phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations
... The genotype-phenotype correlation of all patients was evaluated in more than three patients with same muta- tion (Table 2), and in one or two patients with the same mutation (Additional file ...each ...
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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848
... the genotype-phenotype correlation study (Tables 1, 2, and ...the genotype-phenotype ...Noonan phenotype was diagnosed if at least two of the following features were observed: ...
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Genotype - Phenotype correlation of ICAM-1 K469E Polymorphism with severity of Retinopathy in Patients with Type 2 Diabetes Mellitus
... - PHENOTYPE CORRELATION OF ICAM-1 K469E POLYMORPHISM WITH SEVERITY OF RETINOPATHY IN PATIENTS WITH TYPE 2 DIABETES MELLITUS” is a bonafide and genuine research carried out by me under the guidance of ...
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A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
... Twenty-nine individuals with CMA results were in- cluded for genotype-phenotype correlation analysis. A cluster hierarchical analysis was performed in order to determine similarities among groups of ...
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The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype phenotype correlation
... severe phenotype associ- ated with non-truncating mutations found in our study indicates that at least some BAG3 missense variants exert dominant-negative ...
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Osteogenesis imperfecta: Ultrastructural and histological findings on examination of skin revealing novel insights into genotype-phenotype correlation
... numbers of collagen flowers are also seen in a range of skin pathologies such as: Actinic damage, inflammation, Amyloid, Lymphoma and Pseudoxanthoma Elasticum (PXE), thus underscoring the importance of full knowledge of ...
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Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation
... The genotype-phenotype relationship of patients with FH showed high heterogeneity. Previous studies have found that 20–60% of subjects with phenotypic FH did not carry a causative mutation in LDLR, APOB, or ...
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Genotype-phenotype correlation in the inherited retinal dystrophies
... Closely related to this is the technique of “candidate gene” screening. As information regarding the function o f newly identified genes is discovered, they may become candidates for involvement in a particular disease, ...
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Application of next-generation sequencing to detect variants of drug-resistant Mycobacterium tuberculosis: genotype–phenotype correlation
... polymorphism. Among variants associated with the resistance phenotype, the katG S315T mutation was most frequently found, which is consistent with previous reports [11, 13]. However, the most prevalent mutation in ...
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Tolllike receptor 4 (TLR4) polymorphisms in Tunisian patients with Crohn's disease: genotype-phenotype correlation
... Different analyses, based on the time between the diagno- sis of the complication and the onset of the disease: stric- turing or penetrating form, acute severe colitis, need for surgery or immunosuppressive therapy, have ...
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The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome
... Marfan syndrome (MFS) is the best known example of a hereditary syndromic aortopathy [3], and is the one most frequently encountered in daily practice, with a re- ported prevalence of 6.5/100,000 [4]. It is an autosomal ...
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Genotype-Phenotype Correlation for Cystic Fibrosis According to Registry Center of Cystic Fibrosis
... Based on the results of different studies, the patients homozygous for the ΔF508 mutation typically produce the severe type, compared to other mutations. Santos and Steemburgo (22) and Farra et al (2) reported the higher ...
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Genotype Phenotype Correlation in a MODY 2 Family: An Under Diagnosed Disease
... [10] Zagari, A., Capuano, M., De Simone, A., Capobianco, V., Daniele, G., Giugliano, M., Spadaro, R., Franzese, A. and Tinto, N. (2008) Glucokinase Gene Mutations: Structural and Genotype-Phenotype Analyses ...
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Genotype–phenotype correlation in migraine without aura focusing on the rs1835740 variant on 8q22.1
... There is still an unmet need to find more effective, toler- able and safe treatments for migraine, especially regarding preventive agents. MO is clinically well defined as a syn- drome, but it has not been possible to ...
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<p>Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study</p>
... The aim of this study is to assess the clinical fi ndings of FMF patients who presented with neurological fi ndings due to CNS involvement. This study explains common neurological symptoms in these patients, which, based ...
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Novel Null-Allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria
... 2. Kappas A, Sassa S, Gallbraith RA, Nordmann Y. (1995) The porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inher- ited disease. New York: McGraw-Hill; p 2103–59. 3. McGuire BM, ...
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