Zobrazeno 1 - 10 of 13 pro vyhledávání: '"Melinda Zombor"'
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Akademický článek
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis
Autor: Mauro Scarpelli, Anna Russignan, Melinda Zombor, Csaba Bereczki, Francesca Zappini, Romina Buono, Bridget E. Bax, Alessandro Padovani, Paola Tonin, Massimiliano Filosto
Publikováno v: Case Reports in Neurology, Vol 4, Iss 3, Pp 248-253 (2012)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and mito
Externí odkaz: https://doaj.org/article/abff3364bd7c41488144355aafe27c83
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3
A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia
Autor: László Sztriha, Zoltán Maróti, Melinda Zombor, Katalin Szakszon, Alíz Zimmermann, Csaba Bereczki, Adrienn Máté, Tibor Kalmár
Publikováno v: J Pediatr Genet
Microlissencephaly is a brain malformation characterized by microcephaly and extremely simplified gyral pattern. It may be associated with corpus callosum agenesis and pontocerebellar hypoplasia. In this case report, we described two siblings, a boy
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f657660236041743d35ed743036c35e1
https://doi.org/10.1055/s-0040-1712916
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4
Rare genetic causes of microcephaly and megalencephaly
Autor: Melinda Zombor
Microcephaliában a fejkörfogat kisebb, mint az életkorra és nemre jellemző 2 standard deviáció (SD). Microcephalia kialakulhat prenatalisan (congenitalis microcephalia), vagy postnatalisan, mindkét esetben az etiológia lehet genetikai rendel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::67e9003c9d89cd3f08765403d5565888
https://doi.org/10.14232/phd.10454
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5
Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability
Autor: Zoltán Maróti, Melinda Zombor, Csaba Bereczki, Tibor Kalmár, Adrienn Máté, Alíz Zimmermann, László Sztriha
Publikováno v: Journal of human genetics. 63(11)
Heterozygous disruptions in FOXP1 are responsible for developmental delay, intellectual disability and speech deficit. Heterozygous germline PTCH1 disease-causing variants cause Gorlin syndrome. We describe a girl with extreme megalencephaly, develop
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f48ee76736111e174c5933825d45b09f
https://pubmed.ncbi.nlm.nih.gov/30181650
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6
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature
Autor: Melinda Zombor, Marianne Berenyi, László Sztriha, Oliver Brandau, Nikoletta Nagy, Tibor Kalmár, Zoltán Maróti, Borbála Telcs
Publikováno v: Journal of applied genetics. 60(2)
Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth. One type of the disorder, MCPH2, is caused by biallelic mutations in the WDR62 gene, which encodes the WD repeat-contain
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8ada444952f529b94f12bd8a51eda18
https://pubmed.ncbi.nlm.nih.gov/30706430
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8
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis
Autor: Alessandro Padovani, Bridget E. Bax, Romina Buono, Csaba Bereczki, Anna Russignan, Melinda Zombor, Francesca Zappini, Massimiliano Filosto, Paola Tonin, Mauro Scarpelli
Publikováno v: Case Reports in Neurology, Vol 4, Iss 3, Pp 248-253 (2012)
Case Reports in Neurology
Case Rep Neurol
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and mito
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33214f3ddc721a12c88fc849760dc398
http://www.karger.com/Article/FullText/346260
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9
De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism
Autor: Jonathan J. Waters, Melinda Zombor, Adrienn Máté, László Sztriha, Jennifer Carter
Publikováno v: Case Reports in Genetics, Vol 2016 (2016)
Case Reports in Genetics
A 10-year-old boy was referred with developmental delay and dysmorphism. Genomewide aCGH microarray analysis detected a de novo 3.7 Mb deletion at 1q32.1: arr 1q32.1(199,985,888-203,690,832)x1 dn [build HG19]. This first report of a deletion in this
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5afc606e4302009aa31b2ead96c38c1
https://doaj.org/article/b0916c44c94c407c8e38cd3842bce848
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