Pauli, Silke

[["dc.bibliographiccitation.firstpage","152"],["dc.bibliographiccitation.issue","1-2"],["dc.bibliographiccitation.journal","Journal of the Neurological Sciences"],["dc.bibliographiccitation.lastpage","154"],["dc.bibliographiccitation.volume","331"],["dc.contributor.author","Schmidt, Holger"],["dc.contributor.author","Kretzschmar, Benedikt"],["dc.contributor.author","Lingor, Paul"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Schramm, Peter"],["dc.contributor.author","Otto, Markus"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2018-11-07T09:21:15Z"],["dc.date.available","2018-11-07T09:21:15Z"],["dc.date.issued","2013"],["dc.description.abstract","Adult-onset Alexander disease (AOAD) is a rare leukoencephalopathy affecting predominantly the brainstem and cervical cord with insidious onset of clinical features. Acute onset is very rare and has yet been described only twice, to our knowledge. We report a 32-year-old hitherto healthy male who, after excessive consumption of alcohol, presented with stroke-like onset of symptoms including rigidospasticity, loss of consciousness, and bulbar dysfunction. MRI features comprised bilateral T2-hyperintensities of frontal white matter and basal ganglia as well as atrophy of medulla oblongata with a peculiar \"tadpole\" appearance, a pattern characteristic of AOAD. Mutation analysis of the GFAP gene revealed a heterozygous de novo 9-bp microduplication in exon 1. Adult Alexander disease may present with stroke-like features. MRI patterns of chronic neurodegenerative conditions may be recognizable even in acute neurological emergencies. (C) 2013 Elsevier B.V. All rights reserved."],["dc.identifier.doi","10.1016/j.jns.2013.05.006"],["dc.identifier.isi","000322415000030"],["dc.identifier.pmid","23706596"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/29072"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Science Bv"],["dc.relation.issn","0022-510X"],["dc.title","Acute onset of adult Alexander disease"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["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","4396"],["dc.bibliographiccitation.issue","16"],["dc.bibliographiccitation.journal","Human Molecular Genetics"],["dc.bibliographiccitation.lastpage","4405"],["dc.bibliographiccitation.volume","23"],["dc.contributor.author","Schulz, Yvonne"],["dc.contributor.author","Freese, Luisa"],["dc.contributor.author","Maenz, Johanna"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Voelter, Christiane"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Boegershausen, Nina"],["dc.contributor.author","Becker, Jutta"],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Pauli, Silke"],["dc.date.accessioned","2017-09-07T11:45:38Z"],["dc.date.available","2017-09-07T11:45:38Z"],["dc.date.issued","2014"],["dc.description.abstract","Here, we report a patient, who was initially diagnosed with CHARGE syndrome based on the spectrum of inner organ malformations like choanal hypoplasia, heart defect, anal atresia, vision problems and conductive hearing impairment. While sequencing and MLPA analysis of all coding exons of CHD7 revealed no pathogenic mutation, sequence analysis of the KMT2D gene identified the heterozygous de novo nonsense mutation c.5263C > T (p.Gln1755 ). Thus, our patient was diagnosed with Kabuki syndrome. By using co-immunoprecipitation, immunohistochemistry and direct yeast two hybrid assays, we could show that, like KMT2D, CHD7 interacts with members of the WAR complex, namely WDR5, ASH2L and RbBP5. We therefore propose that CHD7 and KMT2D function in the same chromatin modification machinery, thus pointing out a mechanistic connection, and presenting a probable explanation for the phenotypic overlap between Kabuki and CHARGE syndromes."],["dc.identifier.doi","10.1093/hmg/ddu156"],["dc.identifier.gro","3142072"],["dc.identifier.isi","000340070100016"],["dc.identifier.pmid","24705355"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/4234"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Oxford Univ Press"],["dc.relation.eissn","1460-2083"],["dc.relation.issn","0964-6906"],["dc.title","CHARGE and Kabuki syndromes: a phenotypic and molecular link"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","261"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","264"],["dc.bibliographiccitation.volume","56"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Schröder, Simone"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Dreha-Kulaczewski, Steffi"],["dc.contributor.author","Bergmann, Carsten"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Li, Yun"],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2020-12-10T18:37:16Z"],["dc.date.available","2020-12-10T18:37:16Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1136/jmedgenet-2018-105470"],["dc.identifier.eissn","1468-6244"],["dc.identifier.issn","0022-2593"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/76894"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","176"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Molecular genetics & genomic medicine"],["dc.bibliographiccitation.lastpage","185"],["dc.bibliographiccitation.volume","2"],["dc.contributor.author","Spiegler, Stefanie"],["dc.contributor.author","Najm, Juliane"],["dc.contributor.author","Liu, Jian"],["dc.contributor.author","Gkalympoudis, Stephanie"],["dc.contributor.author","Schröder, Winnie"],["dc.contributor.author","Borck, Guntram"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Elbracht, Miriam"],["dc.contributor.author","Fauth, Christine"],["dc.contributor.author","Ferbert, Andreas"],["dc.contributor.author","Freudenberg, Leonie"],["dc.contributor.author","Grasshoff, Ute"],["dc.contributor.author","Hellenbroich, Yorck"],["dc.contributor.author","Henn, Wolfram"],["dc.contributor.author","Hoffjan, Sabine"],["dc.contributor.author","Hüning, Irina"],["dc.contributor.author","Korenke, G. Christoph"],["dc.contributor.author","Kroisel, Peter M."],["dc.contributor.author","Kunstmann, Erdmute"],["dc.contributor.author","Mair, Martina"],["dc.contributor.author","Munk-Schulenburg, Susanne"],["dc.contributor.author","Nikoubashman, Omid"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Rudnik-Schöneborn, Sabine"],["dc.contributor.author","Sudholt, Irene"],["dc.contributor.author","Sure, Ulrich"],["dc.contributor.author","Tinschert, Sigrid"],["dc.contributor.author","Wiednig, Michaela"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Ginsberg, Mark H."],["dc.contributor.author","Felbor, Ute"],["dc.date.accessioned","2019-07-09T11:41:11Z"],["dc.date.available","2019-07-09T11:41:11Z"],["dc.date.issued","2014-03-01"],["dc.description.abstract","Cerebral cavernous malformations (CCM) are prevalent vascular malformations occurring in familial autosomal dominantly inherited or isolated forms. Once CCM are diagnosed by magnetic resonance imaging, the indication for genetic testing requires either a positive family history of cavernous lesions or clinical symptoms such as chronic headaches, epilepsy, neurological deficits, and hemorrhagic stroke or the occurrence of multiple lesions in an isolated case. Following these inclusion criteria, the mutation detection rates in a consecutive series of 105 probands were 87% for familial and 57% for isolated cases. Thirty-one novel mutations were identified with a slight shift towards proportionally more CCM3 mutations carriers than previously published (CCM1: 60%, CCM2: 18%, CCM3: 22%). In-frame deletions and exonic missense variants requiring functional analyses to establish their pathogenicity were rare: An in-frame deletion within the C-terminal FERM domain of CCM1 resulted in decreased protein expression and impaired binding to the transmembrane protein heart of glass (HEG1). Notably, 20% of index cases carrying a CCM mutation were below age 10 and 33% below age 18 when referred for genetic testing. Since fulminant disease courses during the first years of life were observed in CCM1 and CCM3 mutation carriers, predictive testing of minor siblings became an issue."],["dc.identifier.doi","10.1002/mgg3.60"],["dc.identifier.fs","603997"],["dc.identifier.pmid","24689081"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/11777"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/58366"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.relation","info:eu-repo/grantAgreement/EC/FP7/264143/EU//ENVISION"],["dc.relation.euproject","ENVISION"],["dc.relation.issn","2324-9269"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors."],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]