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  1. Article ; Online: Val66Met polymorphism is associated with decreased likelihood for pediatric headache and migraine.

    Koute, Vasiliki / Michalopoulou, Amalia / Siokas, Vasileios / Aloizou, Athina-Maria / Rikos, Dimitrios / Bogdanos, Dimitrios P / Kontopoulos, Eleftherios / Grivea, Ioanna N / Syrogiannopoulos, George A / Papadimitriou, Alexandros / Hadjigeorgiou, Georgios M / Dardiotis, Efthimios

    Neurological research

    2021  Volume 43, Issue 9, Page(s) 715–723

    Abstract: ... ...

    Abstract Background
    MeSH term(s) Brain-Derived Neurotrophic Factor/genetics ; Case-Control Studies ; Child ; Female ; Gene Frequency ; Genotype ; Headache/genetics ; Humans ; Male ; Migraine Disorders/genetics ; Polymorphism, Single Nucleotide
    Chemical Substances Brain-Derived Neurotrophic Factor ; BDNF protein, human (7171WSG8A2)
    Language English
    Publishing date 2021-05-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 424428-x
    ISSN 1743-1328 ; 0161-6412
    ISSN (online) 1743-1328
    ISSN 0161-6412
    DOI 10.1080/01616412.2021.1922181
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1491: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.

    Papadopoulou, Anna / Dinopoulos, Argyrios / Koutsodontis, George / Pons, Roser / Vorgia, Pelagia / Koute, Vasiliki / Vratimos, Athanassios / Zafeiriou, Dimitrios

    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

    2018  Volume 22, Issue 3, Page(s) 419–426

    Abstract: 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, including the brain, heart, skin and ... ...

    Abstract 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, including the brain, heart, skin and kidneys. Seizures, autism, developmental and behavioral delay, as well as non-neurological phenotypic findings, are suggestive of TSC. The identification of one pathogenic mutation in either the TSC1 or TSC2 genes is considered to be an independent diagnostic criterion. In our study, seventeen Greek patients, 2yo on average, were analyzed for the presence of pathogenic germline mutations in the aforementioned loci by Next-Generation Sequencing. A TSC1/2 gene panel was designed for the molecular diagnosis of the disease. Patients underwent initial diagnosis based on their clinical symptoms, most frequently involving the presence of skin lesions and/or epilepsy. Only one case was familial. Sixteen different genetic alterations were identified in TSC1 and TSC2 genes in fifteen patients, giving a 88% detection rate by employing NGS technology. Overall, most pathogenic mutations (11/15) identified were located in the TSC2 gene with exon 41 being the most frequent. With respect to genotype-phenotype association, no patient TSC1 (+) developed SEGA or renal cysts. No significant differences were observed between different types of TSC2 mutations and any clinical feature. Sequencing also revealed 18 different SNPs across the TSC1 and 20 across the TSC2 genes. This is the first registry of the genetic profile of TSC patients in Greece using a custom-made gene panel as molecular diagnostic tool.
    MeSH term(s) Child ; Child, Preschool ; Exons ; Female ; Greece ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation ; Phenotype ; Registries ; Tuberous Sclerosis/genetics ; Tumor Suppressor Proteins/genetics
    Chemical Substances Tumor Suppressor Proteins ; tuberous sclerosis complex 1 protein ; tuberous sclerosis complex 2 protein (4JG2LF96VF)
    Language English
    Publishing date 2018-02-09
    Publishing country England
    Document type Journal Article
    ZDB-ID 1397146-3
    ISSN 1532-2130 ; 1090-3798
    ISSN (online) 1532-2130
    ISSN 1090-3798
    DOI 10.1016/j.ejpn.2018.01.026
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4867: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 641: Show issues

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  3. Article ; Online: Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.

    Kekou, Kyriaki / Svingou, Maria / Sofocleous, Christalena / Mourtzi, Niki / Nitsa, Evangelia / Konstantinidis, George / Youroukos, Sotiris / Skiadas, Konstantinos / Katsalouli, Marina / Pons, Roser / Papavasiliou, Antigoni / Kotsalis, Charalabos / Pavlou, Evangelos / Evangeliou, Athanasios / Katsarou, Efstathia / Voudris, Konstantinos / Dinopoulos, Argirios / Vorgia, Pelagia / Niotakis, George /
    Diamantopoulos, Nikolaos / Nakou, Iliada / Koute, Vasiliki / Vartzelis, George / Papadimas, George-Konstantinos / Papadopoulos, Constantinos / Tsivgoulis, Georgios / Traeger-Synodinos, Joanne

    Journal of neuromuscular diseases

    2020  Volume 7, Issue 3, Page(s) 247–256

    Abstract: 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 Atrophy (SMA), is one of these ... ...

    Abstract 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 Atrophy (SMA), is one of these conditions and approved therapeutic approaches have recently become available to patients.
    Objective: Analysis of genetic and clinical data from SMA patients referred to the single public-sector provider of genetic services for the disease throughout Greece followed by a retrospective assessment in the context of epidemiology and genotype-phenotype associations.
    Methods: Molecular genetic analysis and retrospective evaluation of findings for 361 patients tested positive for SMA- and 862 apparently healthy subjects from the general population. Spearman rank test and generalized linear models were applied to evaluate secondary modifying factors with respect to their impact on clinical severity and age of onset.
    Results: Causative variations- including 5 novel variants- were detected indicating a minimal incidence of about 1/12,000, and a prevalence of at least 1.5/100,000. For prognosis a minimal model pertaining disease onset before 18 months was proposed to include copy numbers of NAIP (OR = 9.9;95% CI, 4.7 to 21) and SMN2 (OR = 6.2;95% CI, 2.5-15.2) genes as well as gender (OR = 2.2;95% CI, 1.04 to 4.6).
    Conclusions: This long-term survey shares valuable information on the current status and practices for SMA diagnosis on a population basis and provides an important reference point for the future assessment of strategic advances towards disease prevention and health care planning.
    MeSH term(s) Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Genetic Association Studies ; Greece ; Humans ; Incidence ; Infant ; Male ; Middle Aged ; Muscular Atrophy, Spinal/epidemiology ; Muscular Atrophy, Spinal/genetics ; Prevalence ; Retrospective Studies ; Young Adult
    Language English
    Publishing date 2020-05-11
    Publishing country Netherlands
    Document type Journal Article
    ISSN 2214-3602
    ISSN (online) 2214-3602
    DOI 10.3233/JND-190466
    Database MEDical Literature Analysis and Retrieval System OnLINE

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