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Background: ADHD involves impairing core symptoms of inattention and hyperactivity/impulsivity in children (childhood ADHD = CH) that may persist in adulthood (adult ADHD = AD). Conflicting findings have been found regarding AD... more
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      PsychologyChildSmoking CessationSmoking
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    • Taiwanese Nationalism
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      PolymorphismClinical SciencesIntronsAged
We describe a family with b-thalassemia in which several pitfalls of genetic diagnoses were present. These include coherent family phenotypes with discrepancies in molecular findings because of nonpaternity, and a false b-globin gene... more
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      FamilyAdolescentGenetic TestingMutation
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      Britishvon Willebrand factorBlood Coagulation FactorsBlood Coagulation
Inherited factor VII (FVII) deficiency is a rare autosomal disorder characterized by a weak relationship between FVII activity (FVII:C) and operative bleeding risk. We report a retrospective study of 17 patients with a FVII:C below 0AE1... more
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      BritishAdolescentPregnancyChild
Hereditary hyperferritinaemia cataract syndrome (HHCS) is characterized by hyperferritinaemia without iron overload. It is essential to differentiate true iron accumulation from HHCS as these patients rapidly develop iron-deficient... more
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      BritishMutationCataractSodium Dodecyl Sulfate-Polyacrylamide Gel Electrophoresis
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      BritishPregnancyMutation DetectionNewborn Infant
have been identified over the last few years, and abnormalities of various genes may interact in a single patient. This study aimed to develop a rapid automated method for sequencing the main genes involved. Methods: We used a standard... more
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      GeneticsClinical ChemistryChildMutation
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      MutationCataractPedigreeFamily Health
Despite great progress in understanding the mechanisms underlying genetic hemochromatosis, data on the prevalence and the penetrance of the disorder are conflicting.
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      GeneticsFranceGenetic TestingMutation
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      MutationIron OverloadAgedAntimicrobial Cationic Peptides
Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype. Apart from the compound heterozygous state for C282Y and the widespread p.His63Asp (H63D) variant allele, other rare... more
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      Membrane ProteinsGenetic TestingMutationGene Order
Inherited factor VII (FVII) deficiency is one of the commonest rare bleeding disorders. It is characterized by a wide molecular and clinical heterogeneity and an autosomal recessive pattern of inheritance. Factor VII-deficient patients... more
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      PakistanAdolescentHaemophiliaChild
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      AdolescentHaemophiliaMutationClinical Sciences
Background. Because of the very short half-life of factor VII, prophylaxis is considered a difficult endeavor in FVII deficiency. Design and Methods. Clinical efficacy and safety of prophylaxis regimens, and indications for their use,... more
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      Treatment OutcomeAdolescentChildPlasma
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      GeneticsThalassemiasIron OverloadHemochromatosis
Inherited factor VIl (FVII) deficiency is a rare autosomal recessive coagulation disorder characterized by a wide genet-ic heterogeneity and a poor relationship between FVII activity (FVII:C) levels and severity of the hemorrhagic... more
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      MutationPhenotypeFamily HealthHemorrhage
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      Materials EngineeringSilicaNon crystalline solidsBulk Modulus
In order to improve the mechanical properties of silica aerogels, we propose the synthesis of nano composite aerogels. Silica particles (20-100nm) are added in the monomer solution, just before gelling and supercritical drying. The silica... more
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      Materials EngineeringSilicaPore SizeComposite Structure