Smogavec, Mateja

[["dc.bibliographiccitation.artnumber","62"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Molecular Cytogenetics"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Schnabel, Franziska"],["dc.contributor.author","Smogavec, Mateja"],["dc.contributor.author","Funke, Rudolf"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Bartels, Iris"],["dc.date.accessioned","2019-07-09T11:49:46Z"],["dc.date.available","2019-07-09T11:49:46Z"],["dc.date.issued","2018"],["dc.description.abstract","Abstract Background Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without accompanying deletions have rarely been reported. Case presentation Here we report a 5½-year-old boy with clinical features of Down syndrome including distinct craniofacial dysmorphism and sandal gaps as well as developmental delay. Conventional karyotype was normal, whereas interphase FISH analysis revealed three signals for DSCR in approximately 40% of lymphocytes and 80% of buccal mucosa cells. Array-CGH analysis confirmed a 2.56 Mb duplication of chromosome 21q22.13q22.2 encompassing DYRK1A. Conclusion This presents one of the smallest duplications within DSCR leading to a Down syndrome phenotype. Since the dosage sensitive gene DYRK1A is the only duplicated candidate DSCR gene in our patient, this finding supports the hypothesis that DYRK1A contributes to dysmorphic and intellectual features of Down syndrome even in a mosaic state."],["dc.identifier.doi","10.1186/s13039-018-0410-4"],["dc.identifier.pmid","30619508"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/15763"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/59625"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.publisher","BioMed Central"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","74"],["dc.bibliographiccitation.journal","Molecular Cytogenetics"],["dc.bibliographiccitation.volume","7"],["dc.contributor.author","Schwaibold, Eva Maria Christina"],["dc.contributor.author","Smogavec, Mateja"],["dc.contributor.author","Hobbiebrunken, Elke"],["dc.contributor.author","Winter, Lorenz"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Pauli, Silke"],["dc.date.accessioned","2018-11-07T09:33:25Z"],["dc.date.available","2018-11-07T09:33:25Z"],["dc.date.issued","2014"],["dc.description.abstract","Background: Kleefstra syndrome is characterized by intellectual disability, muscular hypotonia in childhood and typical facial features. It results from either a microdeletion of or a deleterious sequence variant in the gene euchromatic histone-lysine N-methyltransferase 1 (EHMT1) on chromosome 9q34. Results: We report on a 3-year-old girl with characteristic symptoms of Kleefstra syndrome. Array comparative genomic hybridization analysis revealed a 145 kilobases duplication spanning exons 2 to 10 of EHMT1. Sequence analysis characterized it as an intragenic tandem duplication leading to a frame shift with a premature stop codon in EHMT1. Conclusions: This is the first description of an intragenic duplication of EHMT1 resulting in Kleefstra syndrome."],["dc.identifier.doi","10.1186/s13039-014-0074-7"],["dc.identifier.isi","000344120100001"],["dc.identifier.pmid","25349628"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/11004"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/31961"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Biomed Central Ltd"],["dc.relation.issn","1755-8166"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Intragenic duplication of EHMT1 gene results in Kleefstra syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1526"],["dc.bibliographiccitation.issue","15_suppl"],["dc.bibliographiccitation.journal","Journal of Clinical Oncology"],["dc.bibliographiccitation.lastpage","1526"],["dc.bibliographiccitation.volume","35"],["dc.contributor.author","Pohl, Esther"],["dc.contributor.author","Hauke, Jan"],["dc.contributor.author","Horvath, Judit"],["dc.contributor.author","Dworniczak, Bernd"],["dc.contributor.author","Gehrig, Andrea"],["dc.contributor.author","Niederacher, Dieter"],["dc.contributor.author","Arnold, Norbert"],["dc.contributor.author","Sutter, Christian"],["dc.contributor.author","Smogavec, Mateja"],["dc.contributor.author","Just, Walter"],["dc.contributor.author","Weber, Bernhard H.F."],["dc.contributor.author","Hentschel, Julia"],["dc.contributor.author","Faust, Ulrike"],["dc.contributor.author","Hackmann, Karl"],["dc.contributor.author","Schmidt, Gunnar"],["dc.contributor.author","Gross, Eva"],["dc.contributor.author","Ramser, Juliane"],["dc.contributor.author","Rhiem, Kerstin"],["dc.contributor.author","Hahnen, Eric"],["dc.contributor.author","Schmutzler, Rita K."],["dc.date.accessioned","2020-12-10T18:41:32Z"],["dc.date.available","2020-12-10T18:41:32Z"],["dc.date.issued","2017"],["dc.identifier.doi","10.1200/JCO.2017.35.15_suppl.1526"],["dc.identifier.eissn","1527-7755"],["dc.identifier.issn","0732-183X"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/77608"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","NGS-based multi-gene panel analysis in BRCA1/2 -negative breast and ovarian cancer families."],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","820"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","827"],["dc.bibliographiccitation.volume","53"],["dc.contributor.author","Smogavec, Mateja"],["dc.contributor.author","Cleall, Alison"],["dc.contributor.author","Hoyer, Juliane"],["dc.contributor.author","Lederer, Damien"],["dc.contributor.author","Nassogne, Marie-Cecile"],["dc.contributor.author","Palmer, Elizabeth E."],["dc.contributor.author","Deprez, Marie"],["dc.contributor.author","Benoit, Valerie"],["dc.contributor.author","Maystadt, Isabelle"],["dc.contributor.author","Noakes, Charlotte"],["dc.contributor.author","Leal, Alejandro"],["dc.contributor.author","Shaw, Marie"],["dc.contributor.author","Gecz, Jozef"],["dc.contributor.author","Raymond, Lucy"],["dc.contributor.author","Reis, Andre"],["dc.contributor.author","Shears, Deborah"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Zweier, Christiane"],["dc.date.accessioned","2018-11-07T10:04:56Z"],["dc.date.available","2018-11-07T10:04:56Z"],["dc.date.issued","2016"],["dc.description.abstract","Background Heterozygous copy number variants (CNVs) or sequence variants in the contactin-associated protein 2 gene CNTNAP2 have been discussed as risk factors for a wide spectrum of neurodevelopmental and neuropsychiatric disorders. Bi-allelic aberrations in this gene are causative for an autosomal-recessive disorder with epilepsy, severe intellectual disability (ID) and cortical dysplasia (CDFES). As the number of reported individuals is still limited, we aimed at a further characterisation of the full mutational and clinical spectrum. Methods Targeted sequencing, chromosomal microarray analysis or multigene panel sequencing was performed in individuals with severe ID and epilepsy. Results We identified homozygous mutations, compound heterozygous CNVs or CNVs and mutations in CNTNAP2 in eight individuals from six unrelated families. All aberrations were inherited from healthy, heterozygous parents and are predicted to be deleterious for protein function. Epilepsy occurred in all affected individuals with onset in the first 3.5 years of life. Further common aspects were ID (severe in 6/8), regression of speech development (5/8) and behavioural anomalies (7/8). Interestingly, cognitive impairment in one of two affected brothers was, in comparison, relatively mild with good speech and simple writing abilities. Cortical dysplasia that was previously reported in CDFES was not present in MRIs of six individuals and only suspected in one. Conclusions By identifying novel homozygous or compound heterozygous, deleterious CNVs and mutations in eight individuals from six unrelated families with moderate-to-severe ID, early onset epilepsy and behavioural anomalies, we considerably broaden the mutational and clinical spectrum associated with biallelic aberrations in CNTNAP2."],["dc.identifier.doi","10.1136/jmedgenet-2016-103880"],["dc.identifier.isi","000391457200005"],["dc.identifier.pmid","27439707"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/38800"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Bmj Publishing Group"],["dc.relation.issn","1468-6244"],["dc.relation.issn","0022-2593"],["dc.title","Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","e167"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Neurology Genetics"],["dc.bibliographiccitation.volume","3"],["dc.contributor.author","Smogavec, Mateja"],["dc.contributor.author","Zschüntzsch, Jana"],["dc.contributor.author","Kress, Wolfram"],["dc.contributor.author","Mohr, Julia"],["dc.contributor.author","Hellen, Peter"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Schmidt, Jens"],["dc.date.accessioned","2020-12-10T18:41:39Z"],["dc.date.available","2020-12-10T18:41:39Z"],["dc.date.issued","2017"],["dc.identifier.doi","10.1212/NXG.0000000000000167"],["dc.identifier.eissn","2376-7839"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/77641"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]