Pauli, Silke

[["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","23"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Monatsschrift Kinderheilkunde"],["dc.bibliographiccitation.lastpage","+"],["dc.bibliographiccitation.volume","155"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Steckel, M."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Wehner, L.-E."],["dc.date.accessioned","2018-11-07T11:07:05Z"],["dc.date.available","2018-11-07T11:07:05Z"],["dc.date.issued","2007"],["dc.description.abstract","CHARGE syndrome is an autosomal dominant syndrome with a high clinical variability. The disorder consists of coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, and ear anomalies and deafness, often in combination with hypoplasia of the semicircular canal. CHARGE syndrome is common, with an estimated incidence of 1/10,000-15,000 new-borns. The underlying cause are mutations in the CHD7 gene. The CHD7 protein belongs to a group of conserved proteins that are thought to play an important role in chromatin organization and regulation of gene expression. The known mutations are spread all over the whole gene; therefore, mutational analyses of all coding sequences and exon/intron boundaries of the gene are necessary for molecular diagnostics, which would be helpful in situations of diagnostic uncertainty."],["dc.identifier.doi","10.1007/s00112-006-1397-1"],["dc.identifier.isi","000244189100004"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/52472"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Springer"],["dc.relation.issn","0026-9298"],["dc.title","CHARGE - from an association to the syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["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","480"],["dc.bibliographiccitation.issue","8-9"],["dc.bibliographiccitation.journal","European Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","484"],["dc.bibliographiccitation.volume","55"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Schmidt, Thomas"],["dc.contributor.author","Funke, Rudolf"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Dybowski, Ursula"],["dc.contributor.author","Shoukier, Moneef"],["dc.contributor.author","Bartels, Iris"],["dc.date.accessioned","2018-11-07T09:07:40Z"],["dc.date.available","2018-11-07T09:07:40Z"],["dc.date.issued","2012"],["dc.description.abstract","We report on monochorionic diamniotic male twins discordant for the trisomy 12p syndrome. Trisomy 12p mosaicism with a supernumerary der(12)(pter > q12) was detected in approximately 50% of lymphocytes in both children. Fluorescence in situ hybridisation (FISH) revealed a high grade mosaicism of approximately 77% trisomy 12p cells in buccal smear and 85% in hair follicles in the affected twin, while in the normal developing brother an additional 12p chromosome fragment could not be detected in those tissues. Instead, in 3% of buccal smear and hair follicle cells a minute supernumerary marker chromosome comprising central portions of chromosome 12 was observed. Trisomy 12p mosaicism, confined to the lymphocytes of the unaffected twin, may be due to prenatal twin-to-twin transfusion, explaining the conspicuously discordant clinical phenotype. We discuss the possible sequence of events leading to the cytogenetic findings and compare the clinical phenotype presented in the affected twin with other cases of trisomy 12p and tetrasomy 12p (Pallister-Killian syndrome). (c) 2012 Elsevier Masson SAS. All rights reserved."],["dc.identifier.doi","10.1016/j.ejmg.2012.05.004"],["dc.identifier.isi","000307540600008"],["dc.identifier.pmid","22677035"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/25853"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Science Bv"],["dc.relation.issn","1769-7212"],["dc.title","Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes"],["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"]]

[["dc.bibliographiccitation.firstpage","E62"],["dc.bibliographiccitation.issue","13"],["dc.bibliographiccitation.journal","Journal of Clinical Oncology"],["dc.bibliographiccitation.lastpage","E65"],["dc.bibliographiccitation.volume","33"],["dc.contributor.author","Menke, Jan"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Sigler, Matthias"],["dc.contributor.author","Kuehnle, Ingrid"],["dc.contributor.author","Shoukier, Moneef"],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Ganster, Christina"],["dc.contributor.author","Salinas-Riester, Gabriela"],["dc.contributor.author","Schaefer, Inga-Marie"],["dc.date.accessioned","2018-11-07T09:57:59Z"],["dc.date.available","2018-11-07T09:57:59Z"],["dc.date.issued","2015"],["dc.identifier.doi","10.1200/JCO.2013.49.6539"],["dc.identifier.isi","000353230100001"],["dc.identifier.pmid","24637993"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/37279"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Amer Soc Clinical Oncology"],["dc.relation.issn","1527-7755"],["dc.relation.issn","0732-183X"],["dc.title","Uniparental Trisomy of a Mutated HRAS Proto-Oncogene in Embryonal Rhabdomyosarcoma of a Patient With Costello Syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["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"]]