Pauli, Silke

[["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","473"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Clinical Genetics"],["dc.bibliographiccitation.lastpage","479"],["dc.bibliographiccitation.volume","75"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Pieper, Lasse"],["dc.contributor.author","Haeberle, Johannes"],["dc.contributor.author","Grzmil, Pawel"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Steckel, M."],["dc.contributor.author","Lenz, Ulrike"],["dc.contributor.author","Michelmann, Hans Wilhelm"],["dc.date.accessioned","2018-11-07T08:30:12Z"],["dc.date.available","2018-11-07T08:30:12Z"],["dc.date.issued","2009"],["dc.description.abstract","Pauli S, Pieper L, HAberle J, Grzmil P, Burfeind P, Steckel M, Lenz U, Michelmann HW. Proven germline mosaicism in a father of two children with CHARGE syndrome.Clin Genet 2009: 75: 473-479. (C) Blackwell Munksgaard, 2009 CHARGE syndrome is an autosomal dominant malformation syndrome caused by mutations in the CHD7 gene. The majority of cases are sporadic and only few familial cases have been reported. In these families, mosaicism in one parent, as well as parent- to-child transmission of a CHD7 mutation, has been described. In some further cases, germline mosaicism has been suggested. Here, we report the first case in which germline mosaicism could be demonstrated in a father of two affected children with CHARGE syndrome. The truncating mutation c.7302dupA in exon 34 of the CHD7 gene was found in both affected children but was not detected in parental lymphocytes. However, in DNA extracted from the father's spermatozoa, the c.7302dupA mutation could be identified. Furthermore, mutation analysis of DNA isolated from 59 single spermatozoa revealed that the c.7302dupA mutation occurs in 16 spermatozoa, confirming germline mosaicism in the father of the affected children. This result has a high impact for genetic counselling of the family and for their recurrence risk in further pregnancies."],["dc.identifier.doi","10.1111/j.1399-0004.2009.01151.x"],["dc.identifier.isi","000265708200010"],["dc.identifier.pmid","19475719"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/16833"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell Publishing, Inc"],["dc.relation.issn","0009-9163"],["dc.title","Proven germline mosaicism in a father of two children with CHARGE syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","652"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","658"],["dc.bibliographiccitation.volume","158A"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","Steinemann, Doris"],["dc.contributor.author","Dittmann, Kai"],["dc.contributor.author","Wienands, Juergen"],["dc.contributor.author","Shoukier, Moneef"],["dc.contributor.author","Moeschner, Marita"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Manukjan, Georgi"],["dc.contributor.author","Goehring, Gudrun"],["dc.contributor.author","Escherich, Gabriele"],["dc.date.accessioned","2018-11-07T09:12:38Z"],["dc.date.available","2018-11-07T09:12:38Z"],["dc.date.issued","2012"],["dc.description.abstract","Noonan syndrome (NS) is a common autosomal dominant condition characterized by short stature, congenital heart defects, and dysmorphic facial features caused in approximately 50% of cases by missense mutations in the PTPN11 gene. NS patients are predisposed to malignancies including myeloproliferative disorders or leukemias. We report a female NS patient carrying a PTPN11 germline mutation c.417 G?>?C (p.E139D), who developed in her second year of life an acute lymphoblastic leukemia (ALL) and after remission, she developed at 4 years of age a juvenile myelomonocytic leukemia (JMML). Molecular genetic analysis of lymphoblastic blasts at the time of the ALL diagnosis revealed the germline mutation in a heterozygous state, while in the myelomonocytic blasts occurring with JMML diagnosis, the mutation p.E139D was found in a homozygous state due to a uniparental disomy (UPD). These findings lead to the suggestion that the pathogenesis of ALL and JMML in our patient is due to different mechanisms including somatically acquired secondary chromosomal abnormalities. (c) 2012 Wiley Periodicals, Inc."],["dc.identifier.doi","10.1002/ajmg.a.34439"],["dc.identifier.isi","000300498500028"],["dc.identifier.pmid","22315187"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/26985"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1552-4825"],["dc.title","Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","30"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Molecular Syndromology"],["dc.bibliographiccitation.lastpage","37"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Neuhofer, Christiane M."],["dc.contributor.author","Funke, Rudolf"],["dc.contributor.author","Wilken, Bernd"],["dc.contributor.author","Knaus, Alexej"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Li, Yun"],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Pauli, Silke"],["dc.date.accessioned","2020-12-10T18:37:53Z"],["dc.date.available","2020-12-10T18:37:53Z"],["dc.date.issued","2020"],["dc.identifier.doi","10.1159/000505797"],["dc.identifier.eissn","1661-8777"],["dc.identifier.issn","1661-8769"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/77127"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.title","A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["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","234"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Clinical Genetics"],["dc.bibliographiccitation.lastpage","239"],["dc.bibliographiccitation.volume","81"],["dc.contributor.author","Pauli, Silke"],["dc.contributor.author","von Velsen, Nina"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Steckel, M."],["dc.contributor.author","Maenz, Johanna"],["dc.contributor.author","Buchholz, Axel"],["dc.contributor.author","Borozdin, Wiktor"],["dc.contributor.author","Kohlhase, Juergen"],["dc.date.accessioned","2018-11-07T09:13:16Z"],["dc.date.available","2018-11-07T09:13:16Z"],["dc.date.issued","2012"],["dc.description.abstract","CHARGE (coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies and deafness) syndrome is a congenital malformation syndrome caused by mutations in the CHD7 gene in approximately 2/ 3 of cases. In the vast majority of cases, CHARGE syndrome is sporadic. There are only a few reports of parent- to- child transmission and somatic or gonadal mosaicism. To determine the parental origin of CHD7 mutations in sporadic CHARGE syndrome, we screened 30 families for informative exonic or intronic polymorphisms located near the detected CHD7 mutation. An informative polymorphism could be identified in 13 out of 30 families. Linkage analysis was performed between the CHD7 mutation and the polymorphism in the child. In 12 out of 13 families, the mutation affected the paternal allele (92.3%). In our cohort, the mean paternal age at birth was 32.92 years. Comparing the age of fathers of an affected CHARGE patient with the paternal age of the German population in general, we could not observe any paternal age effect. Taken together, we show in this study that de novo CHD7 mutations occur predominantly in the male germ line."],["dc.identifier.doi","10.1111/j.1399-0004.2011.01701.x"],["dc.identifier.isi","000299694400005"],["dc.identifier.pmid","21554267"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/27135"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","0009-9163"],["dc.title","CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]