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Listar por tema "genotype phenotype correlation"

Mostrando ítems 1-10 de 10

    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases 

      Xiromerisiou G., Marogianni C., Dadouli K., Zompola C., Georgouli D., Provatas A., Theodorou A., Zervas P., Nikolaidou C., Stergiou S., Ntellas P., Sokratous M., Stathis P., Paraskevas G.P., Bonakis A., Voumvourakis K., Hadjichristodoulou C., Hadjigeorgiou G.M., Tsivgoulis G. (2020)
      Objective The aim of this study was to evaluate the correlation between the various NOTCH3 mutations and their clinical and genetic profile, along with the presentation of a novel mutation in a patient.MethodsHere, we ...

    • Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years 

      Kekou K., Svingou M., Sofocleous C., Mourtzi N., Nitsa E., Konstantinidis G., Youroukos S., Skiadas K., Katsalouli M., Pons R., Papavasiliou A., Kotsalis C., Pavlou E., Evangeliou A., Katsarou E., Voudris K., Dinopoulos A., Vorgia P., Niotakis G., Diamantopoulos N., Nakou I., Koute V., Vartzelis G., Papadimas G.-K., Papadopoulos C., Tsivgoulis G., Traeger-Synodinos J. (2020)
      Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular ...

    • Genetics of Hereditary Angioedema Revisited 

      Germenis A.E., Speletas M. (2016)
      Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing ...

    • Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 

      Grover S., Sreelatha A.A.K., Pihlstrom L., Domenighetti C., Schulte C., Sugier P.-E., Radivojkov-Blagojevic M., Lichtner P., Mohamed O., Portugal B., Landoulsi Z., May P., Bobbili D., Edsall C., Bartusch F., Hanussek M., Krüger J., Hernandez D.G., Blauwendraat C., Mellick G.D., Zimprich A., Pirker W., Tan M., Rogaeva E., Lang A., Koks S., Taba P., Lesage S., Brice A., Corvol J.-C., Chartier-Harlin M.-C., Mutez E., Brockmann K., Deutschländer A.B., Hadjigeorgiou G.M., Dardiotis E., Stefanis L., Simitsi A.M., Valente E.M., Petrucci S., Straniero L., Zecchinelli A., Pezzoli G., Brighina L., Ferrarese C., Annesi G., Quattrone A., Gagliardi M., Burbulla L.F., Matsuo H., Kawamura Y., Hattori N., Nishioka K., Chung S.J., Kim Y.J., Pavelka L., Van De Warrenburg B.P.C., Bloem B.R., Singleton A.B., Aasly J., Toft M., Guedes L.C., Ferreira J.J., Bardien S., Carr J., Tolosa E., Ezquerra M., Pastor P., Diez-Fairen M., Wirdefeldt K., Pedersen N.L., Ran C., Belin A.C., Puschmann A., Hellberg C., Clarke C.E., Morrison K.E., Krainc D., Farrer M.J., Kruger R., Elbaz A., Gasser T., Sharma M. (2022)
      Background and Objectives Considerable heterogeneity exists in the literature concerning genetic determinants of the age at onset (AAO) of Parkinson disease (PD), which could be attributed to a lack of well-powered replication ...

    • The greek variant in app gene: The phenotypic spectrum of app mutations 

      Kalampokini S., Georgouli D., Patrikiou E., Provatas A., Valotassiou V., Georgoulias P., Spanaki C., Hadjigeorgiou G.M., Xiromerisiou G. (2021)
      Mutations in the gene encoding amyloid precursor protein (APP) cause autosomal dominant inherited Alzheimer’s disease (AD). We present a case of a 68-year-old female who presented with epileptic seizures, neuropsychiatric ...

    • Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases 

      Marogianni C., Georgouli D., Dadouli K., Ntellas P., Rikos D., Hadjigeorgiou G.M., Spanaki C., Xiromerisiou G. (2021)
      Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with isolated and complex early-onset generalized dystonia. We describe clinico-genetic features on a Greek patient ...

    • Leveraging Genetics for Hereditary Angioedema: A Road Map to Precision Medicine 

      Germenis A.E., Rijavec M., Veronez C.L. (2021)
      Biochemical studies performed during the last decades resulted in the development of various innovative medicinal products for hereditary angioedema (HAE). These therapeutic agents target the production or the function of ...

    • Netherton Syndrome: A Genotype-Phenotype Review 

      Sarri C.A., Roussaki-Schulze A., Vasilopoulos Y., Zafiriou E., Patsatsi A., Stamatis C., Gidarokosta P., Sotiriadis D., Sarafidou T., Mamuris Z. (2017)
      Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor ...

    • A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases 

      Xiromerisiou G., Dadouli K., Marogianni C., Provatas A., Ntellas P., Rikos D., Stathis P., Georgouli D., Loules G., Zamanakou M., Hadjigeorgiou G.M. (2020)
      ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been described so far. Here, we report two brothers, born to non-consanguineous ...

    • Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome 

      Papadopoulou A., Dinopoulos A., Koutsodontis G., Pons R., Vorgia P., Koute V., Vratimos A., Zafeiriou D. (2018)
      Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, ...