Autor: "Gašperíková, D." - OpacWWW

Skocz do pozycji: 1.

Tytuł:: MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.
Autorzy:: Mašindová I; Laboratory of Diabetes and Metabolic Disorders & DIABGENE, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovakia.
Šoltýsová A; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia.
Varga L; Laboratory of Diabetes and Metabolic Disorders & DIABGENE, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovakia; Department of Otorhinolaryngology-Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.
Mátyás P; Department of Medical Genetics, University of Pécs, Clinical Centre, Pécs, Hungary.
Ficek A; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
Hučková M; Laboratory of Diabetes and Metabolic Disorders & DIABGENE, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovakia; Center for Molecular Medicine, Slovak Academy of Sciences, Bratislava, Slovakia.
Sůrová M; Laboratory of Diabetes and Metabolic Disorders & DIABGENE, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovakia.
Šafka-Brožková D; DNA Laboratory, Department of Paediatric Neurology, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic.
Anwar S; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States of America.
Bene J; Department of Medical Genetics, University of Pécs, Clinical Centre, Pécs, Hungary; Szentagothai Research Centre, University of Pécs, Pécs, Hungary.
Straka S; Department of Otorhinolaryngology-Head and Neck Surgery, Faculty Hospital of J. A. Reiman, Prešov, Slovakia.
Janicsek I; Department of Medical Genetics, University of Pécs, Clinical Centre, Pécs, Hungary.
Ahmed ZM; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States of America.
Seeman P; DNA Laboratory, Department of Paediatric Neurology, Charles University 2nd Medical School and University Hospital Motol, Prague, Czech Republic.
Melegh B; Department of Medical Genetics, University of Pécs, Clinical Centre, Pécs, Hungary; Szentagothai Research Centre, University of Pécs, Pécs, Hungary.
Profant M; Department of Otorhinolaryngology-Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University, Bratislava, Slovakia.
Klimeš I; Laboratory of Diabetes and Metabolic Disorders & DIABGENE, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovakia.
Riazuddin S; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, Maryland, United States of America.
Kádasi Ľ; Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia.
Gašperíková D; Laboratory of Diabetes and Metabolic Disorders & DIABGENE, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovakia; Center for Molecular Medicine, Slovak Academy of Sciences, Bratislava, Slovakia.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2015 Apr 17; Vol. 10 (4), pp. e0124232. Date of Electronic Publication: 2015 Apr 17 (Print Publication: 2015).
Typ publikacji:: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Mutation*
Polymorphism, Single Nucleotide*
Hearing Loss/*genetics
MARVEL Domain Containing 2 Protein/*genetics
Roma/*genetics
Age of Onset ; Alleles ; Connexin 26 ; Connexins ; Czech Republic/ethnology ; Exons/genetics ; Founder Effect ; Gene Frequency ; Genotype ; Haplotypes/genetics ; Hearing Loss/congenital ; Hearing Loss/ethnology ; Humans ; Hungary/ethnology ; Infant ; Pakistan/ethnology ; Prevalence ; Sequence Homology, Nucleic Acid ; Slovakia/ethnology

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Skocz do pozycji: 2.

Tytuł:: Is deafness etiology important for prediction of functional outcomes in pediatric cochlear implantation?
Autorzy:: Varga L; 1st Otorhinolaryngology Clinic, Faculty of Medicine and University Hospital, Comenius University , Bratislava.
Kabátová Z
Mašindová I
Nechojdomová D
Gašperíková D
Klimeš I
Profant M; Pokaż więcej
Źródło:: Acta oto-laryngologica [Acta Otolaryngol] 2014 Jun; Vol. 134 (6), pp. 571-8. Date of Electronic Publication: 2014 Apr 11.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Cochlear Implantation*
Cochlear Implants*
Deafness/*etiology
Deafness/*therapy
Age Factors ; Audiometry ; Auditory Threshold ; Child ; Child, Preschool ; Connexin 26 ; Connexin 30 ; Connexins/genetics ; Female ; Humans ; Male ; Mutation/genetics ; Recovery of Function ; Retrospective Studies ; Slovakia ; Time Factors ; Treatment Outcome

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Tytuł:: Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
Autorzy:: Valentínová L; Institute of Experimental Endocrinology, Slovak Academy of Science, Bratislava, Slovakia.
Beer NL
Staník J
Tribble ND
van de Bunt M
Hučková M
Barrett A
Klimeš I
Gašperíková D
Gloyn AL; Pokaż więcej
Źródło:: PloS one [PLoS One] 2012; Vol. 7 (4), pp. e34541. Date of Electronic Publication: 2012 Apr 06.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Mutation, Missense*
Diabetes Mellitus, Type 2/*genetics
Glucokinase/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; DNA Mutational Analysis ; Diabetes Mellitus, Type 2/diagnosis ; Enzyme Stability ; Female ; Genetic Testing ; Genotype ; Heterozygote ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Slovakia

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