Kramer, Franz-Josef

[["dc.bibliographiccitation.firstpage","1334"],["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","International Journal of Pediatric Otorhinolaryngology"],["dc.bibliographiccitation.lastpage","1338"],["dc.bibliographiccitation.volume","73"],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Birnbaum, Stefanie"],["dc.contributor.author","Mende, Meinhard"],["dc.contributor.author","de Assis, Nilma Almeida"],["dc.contributor.author","Hoffmann, Per"],["dc.contributor.author","Lacava, Amalia Diaz"],["dc.contributor.author","Herms, Stefan"],["dc.contributor.author","Braumann, Bert"],["dc.contributor.author","Scheer, Martin"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Schmidt, Guel"],["dc.contributor.author","Schiefke, Franziska"],["dc.contributor.author","Dunsche, Anton"],["dc.contributor.author","Martini, Markus"],["dc.contributor.author","Knapp, Michael"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Noethen, Markus M."],["dc.contributor.author","Mangold, Elisabeth"],["dc.date.accessioned","2018-11-07T11:23:45Z"],["dc.date.available","2018-11-07T11:23:45Z"],["dc.date.issued","2009"],["dc.description.abstract","Objective: Transforming growth factor-beta (TGF-beta) type 1 receptor (also known as activin receptor-like kinase 5, ALK5) is expressed in palatal tissue during embryogenesis. Experimental studies in transgenic mice with a genetic deletion of Alk5 showed that TGF-beta type 1 receptor is required for upper lip and midline fusion of the hard and soft palate. In humans, association of TGF-beta type 1 receptor gene (TGFBR1) and the development of non-syndromic cleft lip with or without cleft palate (NSCL/P) had been observed in a multiethnic sample of Chinese, Philippine, Indian and Turkish families. In order to re-evaluate the relevance of these findings, we carried out a family-based association study among 218 NSCL/P families of Central European descent. Methods: Genomic DNA was obtained from peripheral blood of 218 complete parent-offspring triads with NSCL/P. The sample comprised 14 patients with cleft lip only (CLO) and 204 patients with cleft lip and palate (CLP). Genotyping and transmission disequilibrium test (TDT) were performed on all 218 triads with a total of 17 tagging single-nucleotide polymorphisms (SNPs). We also performed testing for extended haplotypes and a log-linear model by Weinberg was used to screen parent-of-origin effects. Furthermore the use of estimates for the relative risks (RR) of Weinberg's model was obtained. Results: TDT analysis revealed no significant transmission distortion, neither at the level of individual markers nor at the level of haplotypes. Similarly negative results were obtained when we restricted our analysis to the subgroup of patients with CLP (n = 204). Relative risk calculations (RR) of the children's and mothers' genotypes obtained negative results, after correction of p-values for multiple testing. Likewise application of Weinberg's log-linear model did not find any evidence for parent-of-origin effects in our sample. Conclusion: Despite the ample evidence supporting the role of TGF-beta type 1 receptor as a critically important and widespread morphogenetic regulator of craniofacial development in murine models, our results do not support TGFBR I as major risk factor for NSCL/P in patients of Central European descent. (C) 2009 Elsevier Ireland Ltd. All rights reserved."],["dc.description.sponsorship","Deutsche Forschungsgemeinschaft; CNPq/Brazil"],["dc.identifier.doi","10.1016/j.ijporl.2009.06.004"],["dc.identifier.isi","000270252100004"],["dc.identifier.pmid","19586667"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/56257"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Ireland Ltd"],["dc.relation.issn","0165-5876"],["dc.title","Transforming growth factor-beta receptor type 1 (TGFBR1) is not associated with non-syndromic cleft lip with or without cleft palate in patients of Central European descent"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","787"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","790"],["dc.bibliographiccitation.volume","146A"],["dc.contributor.author","Birnbaum, Stefanie"],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Scheer, Martin"],["dc.contributor.author","Schmidt, Guel"],["dc.contributor.author","Saffar, Mitra"],["dc.contributor.author","Martinis, Markus"],["dc.contributor.author","Hemprich, Alexander"],["dc.contributor.author","Henschke, Henning"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Mangold, Elisabeth"],["dc.date.accessioned","2018-11-07T11:17:06Z"],["dc.date.available","2018-11-07T11:17:06Z"],["dc.date.issued","2008"],["dc.identifier.doi","10.1002/ajmg.a.32219"],["dc.identifier.isi","000253650500015"],["dc.identifier.pmid","18247422"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/54734"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.subtype","letter_note"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2680"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","2694"],["dc.bibliographiccitation.volume","149A"],["dc.contributor.author","Mangold, Elisabeth"],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Birnbaum, Stefanie"],["dc.contributor.author","Walier, Maja"],["dc.contributor.author","Mattheisen, Manuel"],["dc.contributor.author","Henschke, Henning"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Schmidt, Guel"],["dc.contributor.author","Schiefke, Franziska"],["dc.contributor.author","Reich, Rudolf H."],["dc.contributor.author","Scheer, Martin"],["dc.contributor.author","Hemprich, Alexander"],["dc.contributor.author","Martini, Markus"],["dc.contributor.author","Braumann, Bert"],["dc.contributor.author","Krimmel, Michael"],["dc.contributor.author","Opitz, Charlotte"],["dc.contributor.author","Lenz, Jan-Hendrik"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Wienker, Thomas F."],["dc.contributor.author","Noethen, Markus M."],["dc.contributor.author","Lacava, Amalia Diaz"],["dc.date.accessioned","2018-11-07T11:21:12Z"],["dc.date.available","2018-11-07T11:21:12Z"],["dc.date.issued","2009"],["dc.description.abstract","Orofacial clefts are among the most common of all congenital disorders. Nonsyndromic cases of cleft lip with or without cleft palate (NSCL/P) and cleft palate only (NSCPO) are considered to have a multifactorial etiology which involves both genetic and environmental factors. We present the results of a genome-wide linkage scan in 91 families of central European descent with nonsyndromic orofacial clefts (NSC). The sample included 74 NSCL/P families, 15 NSCPO families, and 2 mixed families (a total of 217 affected and 230 unaffected individuals were genotyped). We genotyped 542 microsatellite markers (average intermarker distance = 6.9 cM). Multipoint nonparametric linkage analysis was performed using Allegro 2.0f. In addition to the factors investigated in previous genome-wide linkage analyses, we searched for sex-specific susceptibility loci, loci demonstrating parental imprinting and loci that are shared by NSCL/P and NSCPO. Several genomic regions likely to contain susceptibility loci for NSC were identified at the level of nominal significance. Some of these overlap with regions identified in previous studies. Suggestive evidence of linkage was obtained for the loci 4q21-q26 and 1p31-p21, with the chromosome 1 locus showing a male-specific genetic effect. Our study has identified promising chromosomal regions for the identification of NSC-associated genes, and demonstrates the importance of performing detailed statistical analyses which take into account complex genetic mechanisms such as sex-specific effects and genomic imprinting. Further research in large patient samples is necessary to identify factors common to NSCL/P and NSCPO. (C) 2009 Wiley-Liss, Inc."],["dc.description.sponsorship","Deutsche Forschungsgemeinschaft [FOR 423]"],["dc.identifier.doi","10.1002/ajmg.a.33136"],["dc.identifier.isi","000272535000009"],["dc.identifier.pmid","19938073"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/55721"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","Genome-Wide Linkage Scan of Nonsyndromic Orofacial Clefting in 91 Families of Central European Origin"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","766"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","European Journal Of Oral Sciences"],["dc.bibliographiccitation.lastpage","769"],["dc.bibliographiccitation.volume","117"],["dc.contributor.author","Birnbaum, Stefanie"],["dc.contributor.author","Ludwig, Kerstin U."],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Herms, Stefan"],["dc.contributor.author","de Assis, Nilma Almeida"],["dc.contributor.author","Diaz-Lacava, Amalia"],["dc.contributor.author","Barth, Sandra"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Schmidt, Guel"],["dc.contributor.author","Scheer, Martin"],["dc.contributor.author","Saffar, Mitra"],["dc.contributor.author","Martini, Markus"],["dc.contributor.author","Reich, Rudolf H."],["dc.contributor.author","Schiefke, Franziska"],["dc.contributor.author","Hemprich, Alexander"],["dc.contributor.author","Poetzsch, Simone"],["dc.contributor.author","Poetzsch, Bernd"],["dc.contributor.author","Wienker, Thomas F."],["dc.contributor.author","Hoffmann, Per"],["dc.contributor.author","Knapp, Michael"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Noethen, Markus M."],["dc.contributor.author","Mangold, Elisabeth"],["dc.date.accessioned","2018-11-07T11:21:26Z"],["dc.date.available","2018-11-07T11:21:26Z"],["dc.date.issued","2009"],["dc.description.abstract","Variants in the interferon regulatory factor 6 (IRF6) gene have repeatedly been associated with non-syndromic cleft lip with or without cleft palate (NSCL/P). A recent study has suggested that the functionally relevant variant rs642961 is the underlying cause of the observed associations. We genotyped rs642961 in our Central European case-control sample of 460 NSCL/P patients and 952 controls. In order to investigate whether other IRF6 variants contribute independently to the etiology of NSCL/P, we also genotyped the non-synonymous coding variant V274I (rs2235371) and five IRF6-haplotype tagging single nucleotide polymorphisms (SNPs). A highly significant result was observed for rs642961 (P = 1.44 x 10-6) in our sample. The odds ratio was 1.75 [95% confidence interval (CI): 1.38-2.22] for the heterozygous genotype and 1.94 (95% CI: 1.21-3.10) for the homozygous genotype, values that are similar to those reported in a previously published family-based study. Our results thus confirm the involvement of the IRF6 variant, rs642961, in the etiology of NSCL/P in the Central European population. We also found evidence suggestive of an independent protective effect of the coding variant V274I. In order to understand fully the genetic architecture of the IRF6 locus, it will be necessary to conduct additional SNP-based and resequencing studies using large samples of patients."],["dc.identifier.isi","000271780500019"],["dc.identifier.pmid","20121942"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/55769"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell Publishing, Inc"],["dc.relation.issn","0909-8836"],["dc.title","IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","49"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","International Journal of Pediatric Otorhinolaryngology"],["dc.bibliographiccitation.lastpage","52"],["dc.bibliographiccitation.volume","75"],["dc.contributor.author","de Assis, Nilma Almeida"],["dc.contributor.author","Nowak, Stefanie"],["dc.contributor.author","Ludwig, Kerstin U."],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Vollmer, Jennifer"],["dc.contributor.author","Hellmann, Stefanie"],["dc.contributor.author","Kluck, Nadine"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Braumann, Bert"],["dc.contributor.author","Reich, Rudolf H."],["dc.contributor.author","Hemprich, Alexander"],["dc.contributor.author","Knapp, Michael"],["dc.contributor.author","Wienker, Thomas F."],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Hoffmann, Per"],["dc.contributor.author","Noethen, Markus M."],["dc.contributor.author","Mangold, Elisabeth"],["dc.date.accessioned","2018-11-07T09:01:28Z"],["dc.date.available","2018-11-07T09:01:28Z"],["dc.date.issued","2011"],["dc.description.abstract","Objective: Studies in mice and humans have suggested that SUMO1, which codes for the small ubiquitin-related modifier 1 (SUMO1), is a promising candidate gene for non-syndromic cleft lip with or without cleft palate (NSCL/P). To investigate the possible involvement of this gene in NSCL/P patients from Central Europe, we performed: (i) a case control association study, and (ii) a resequencing study. Methods: Genotyping and the subsequent single marker and haplotype association analyses were performed for 413 NSCL/P patients and 412 controls. A total of 17 tagging single-nucleotide polymorphisms (SNPs) were used. In the resequencing study, the complete coding region and splice sites were sequenced in 65 index patients from multiply affected families. Results: One of the 17 tested SNPs (rs16838917) had a borderline significant P-value of 0.0416 in the single-marker association analysis. However, this result did not withstand correction for multiple testing (P(corr) = 0.707). No association was observed for any haplotypic marker combination. Sequencing failed to identify any novel rare sequence variants. Conclusions: The results of the present study do not support the hypothesis that common or rare variants in SUMO1 play a significant role in the development of NSCL/P in Central-European patients. However, smaller effects of common variants or the presence of rare high penetrance mutations in other non-investigated familial cases cannot be excluded. Further analysis of SUMO1 in independent samples from Central European and other populations is therefore warranted. (C) 2010 Elsevier Ireland Ltd. All rights reserved."],["dc.identifier.doi","10.1016/j.ijporl.2010.10.005"],["dc.identifier.isi","000287065800009"],["dc.identifier.pmid","21044801"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/24434"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Ireland Ltd"],["dc.relation.issn","0165-5876"],["dc.title","SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: No evidence for the involvement of common or rare variants in Central European patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","24"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Nature Genetics"],["dc.bibliographiccitation.lastpage","26"],["dc.bibliographiccitation.volume","42"],["dc.contributor.author","Mangold, Elisabeth"],["dc.contributor.author","Ludwig, Kerstin U."],["dc.contributor.author","Birnbaum, Stefanie"],["dc.contributor.author","Baluardo, Carlotta"],["dc.contributor.author","Ferrian, Melissa"],["dc.contributor.author","Herms, Stefan"],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","de Assis, Nilma Almeida"],["dc.contributor.author","Al Chawa, Taofik"],["dc.contributor.author","Mattheisen, Manuel"],["dc.contributor.author","Steffens, Michael"],["dc.contributor.author","Barth, Sandra"],["dc.contributor.author","Kluck, Nadine"],["dc.contributor.author","Paul, Anna"],["dc.contributor.author","Becker, Jessica"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Schmidt, Guel"],["dc.contributor.author","Braumann, Bert"],["dc.contributor.author","Scheer, Martin"],["dc.contributor.author","Reich, Rudolf H."],["dc.contributor.author","Hemprich, Alexander"],["dc.contributor.author","Poetzsch, Simone"],["dc.contributor.author","Blaumeiser, Bettina"],["dc.contributor.author","Moebus, Susanne"],["dc.contributor.author","Krawczak, Michael"],["dc.contributor.author","Schreiber, Stefan"],["dc.contributor.author","Meitinger, Thomas"],["dc.contributor.author","Wichmann, Hans-Erich"],["dc.contributor.author","Steegers-Theunissen, Regine P."],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Cichon, Sven"],["dc.contributor.author","Propping, Peter"],["dc.contributor.author","Wienker, Thomas F."],["dc.contributor.author","Knapp, Michael"],["dc.contributor.author","Rubini, Michele"],["dc.contributor.author","Mossey, Peter A."],["dc.contributor.author","Hoffmann, Per"],["dc.contributor.author","Noethen, Markus M."],["dc.date.accessioned","2018-11-07T08:48:11Z"],["dc.date.available","2018-11-07T08:48:11Z"],["dc.date.issued","2010"],["dc.description.abstract","We conducted a genome-wide association study for nonsyndromic cleft lip with or without cleft palate (NSCL/P) in 401 affected individuals and 1,323 controls, with replication in an independent sample of 793 NSCL/P triads. We report two new loci associated with NSCL/P at 17q22 (rs227731, combined P = 1.07 x 10(-8), relative risk in homozygotes = 1.84, 95% CI 1.34-2.53) and 10q25.3 (rs7078160, combined P = 1.92 x 10(-8), relative risk in homozygotes = 2.17, 95% CI 1.32-3.56)."],["dc.identifier.doi","10.1038/ng.506"],["dc.identifier.isi","000273055100011"],["dc.identifier.pmid","20023658"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/6200"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/21148"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","1546-1718"],["dc.relation.issn","1061-4036"],["dc.rights","Goescholar"],["dc.rights.uri","https://goescholar.uni-goettingen.de/licenses"],["dc.title","Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","925"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","Birth Defects Research Part A Clinical and Molecular Teratology"],["dc.bibliographiccitation.lastpage","933"],["dc.bibliographiccitation.volume","94"],["dc.contributor.author","Nasser, Entessar"],["dc.contributor.author","Mangold, Elisabeth"],["dc.contributor.author","Tradowsky, Daniela C."],["dc.contributor.author","Fier, Heide"],["dc.contributor.author","Becker, Jessica"],["dc.contributor.author","Boehmer, Anne C."],["dc.contributor.author","Herberz, Ruth"],["dc.contributor.author","Fricker, Nadine"],["dc.contributor.author","Barth, Sandra"],["dc.contributor.author","Wahle, Philipp"],["dc.contributor.author","Nowak, Stefanie"],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Reich, Rudolf H."],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Braumann, Bert"],["dc.contributor.author","Kreusch, Thomas"],["dc.contributor.author","Hemprich, Alexander"],["dc.contributor.author","Poetzsch, Bernd"],["dc.contributor.author","Hoffmann, Per"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Knapp, Michael"],["dc.contributor.author","Lange, Christoph"],["dc.contributor.author","Noethen, Markus M."],["dc.contributor.author","Ludwig, Kerstin U."],["dc.date.accessioned","2018-11-07T09:03:52Z"],["dc.date.available","2018-11-07T09:03:52Z"],["dc.date.issued","2012"],["dc.description.abstract","BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital anomalies, and has a multifactorial etiology involving both environmental and genetic factors. Recent genome-wide association studies (GWAS) identified strong association between a locus on chromosome 10q25.3 and NSCL/P in European samples. One gene at 10q25.3, the ventral anterior homeobox 1 (VAX1) gene, is considered a strong candidate gene for craniofacial malformations. The purpose of the present study was to provide further evidence that VAX1 is the causal gene at the 10q25.3 locus through identification of an excess of rare mutations in patients with NSCL/P. METHODS: The 5'UTR, complete coding regions, and adjacent splice sites of the two known VAX1 isoforms were sequenced in 384 patients with NSCL/P and 384 controls of Central European descent. Observed variants were investigated with respect to familial cosegregation or de novo occurrence, and in silico analyses were performed to identify putative effects on the transcript or protein level. RESULTS: Eighteen single-base variants were found, 15 of them rare and previously unreported. In the long VAX1 isoform, predicted functionally relevant variants were observed more often in NSCL/P cases, although this difference was not significant (p = 0.17). Analysis of family members demonstrated incomplete cosegregation in most pedigrees. CONCLUSION: Our data do not support the hypothesis that highly penetrant rare variants in VAX1 are a cause of NSCL/P. To determine whether VAX1 is the causative gene at 10q25.3 further research, in particular into the biologic function of its long isoform, is warranted. Birth Defects Research (Part A), 2012. (c) 2012 Wiley Periodicals, Inc."],["dc.identifier.doi","10.1002/bdra.23078"],["dc.identifier.isi","000311234400010"],["dc.identifier.pmid","23081944"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/24984"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1542-0760"],["dc.relation.issn","1542-0752"],["dc.title","Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","968"],["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","Nature Genetics"],["dc.bibliographiccitation.lastpage","971"],["dc.bibliographiccitation.volume","44"],["dc.contributor.author","Ludwig, Kerstin U."],["dc.contributor.author","Mangold, Elisabeth"],["dc.contributor.author","Herms, Stefan"],["dc.contributor.author","Nowak, Stefanie"],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Paul, Anna"],["dc.contributor.author","Becker, Jessica"],["dc.contributor.author","Herberz, Ruth"],["dc.contributor.author","AlChawa, Taofik"],["dc.contributor.author","Nasser, Entessar"],["dc.contributor.author","Boehmer, Anne C."],["dc.contributor.author","Mattheisen, Manuel"],["dc.contributor.author","Alblas, Margrieta A."],["dc.contributor.author","Barth, Sandra"],["dc.contributor.author","Kluck, Nadine"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Braumann, Bert"],["dc.contributor.author","Reich, Rudolf H."],["dc.contributor.author","Hemprich, Alexander"],["dc.contributor.author","Poetzsch, Simone"],["dc.contributor.author","Blaumeiser, Bettina"],["dc.contributor.author","Daratsianos, Nikolaos"],["dc.contributor.author","Kreusch, Thomas"],["dc.contributor.author","Murray, Jeffrey C."],["dc.contributor.author","Marazita, Mary L."],["dc.contributor.author","Ruczinski, Ingo"],["dc.contributor.author","Scott, Alan F."],["dc.contributor.author","Beaty, Terri H."],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Wienker, Thomas F."],["dc.contributor.author","Steegers-Theunissen, Regine P."],["dc.contributor.author","Rubini, Michele"],["dc.contributor.author","Mossey, Peter A."],["dc.contributor.author","Hoffmann, Per"],["dc.contributor.author","Lange, Christoph"],["dc.contributor.author","Cichon, Sven"],["dc.contributor.author","Propping, Peter"],["dc.contributor.author","Knapp, Michael"],["dc.contributor.author","Noethen, Markus M."],["dc.date.accessioned","2018-11-07T09:06:32Z"],["dc.date.available","2018-11-07T09:06:32Z"],["dc.date.issued","2012"],["dc.description.abstract","We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date. We confirmed associations with all previously identified loci and identified six additional susceptibility regions (1p36, 2p21, 3p11.1, 8q21.3, 13q31.1 and 15q22). Analysis of phenotypic variability identified the first specific genetic risk factor for NSCLP (nonsyndromic cleft lip plus palate) (rs8001641; P-NSCLP = 6.51 x 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16)."],["dc.identifier.doi","10.1038/ng.2360"],["dc.identifier.isi","000308491200005"],["dc.identifier.pmid","22863734"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/25583"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Nature Publishing Group"],["dc.relation.issn","1061-4036"],["dc.title","Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","473"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Nature Genetics"],["dc.bibliographiccitation.lastpage","477"],["dc.bibliographiccitation.volume","41"],["dc.contributor.author","Birnbaum, Stefanie"],["dc.contributor.author","Ludwig, Kerstin U."],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Herms, Stefan"],["dc.contributor.author","Steffens, Michael"],["dc.contributor.author","Rubini, Michele"],["dc.contributor.author","Baluardo, Carlotta"],["dc.contributor.author","Ferrian, Melissa"],["dc.contributor.author","Assis, Nilma Almeida de"],["dc.contributor.author","Alblas, Margrieta A."],["dc.contributor.author","Barth, Sandra"],["dc.contributor.author","Freudenberg, Jan"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Schmidt, Guel"],["dc.contributor.author","Scheer, Martin"],["dc.contributor.author","Braumann, Bert"],["dc.contributor.author","Bergé, Stefaan J."],["dc.contributor.author","Reich, Rudolf H."],["dc.contributor.author","Schiefke, Franziska"],["dc.contributor.author","Hemprich, Alexander"],["dc.contributor.author","Poetzsch, Simone"],["dc.contributor.author","Steegers-Theunissen, Regine P."],["dc.contributor.author","Poetzsch, Bernd"],["dc.contributor.author","Moebus, Susanne"],["dc.contributor.author","Horsthemke, Bernhard"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Wienker, Thomas F."],["dc.contributor.author","Mossey, Peter A."],["dc.contributor.author","Propping, Peter"],["dc.contributor.author","Cichon, Sven"],["dc.contributor.author","Hoffmann, Per"],["dc.contributor.author","Knapp, Michael"],["dc.contributor.author","Noethen, Markus M."],["dc.contributor.author","Mangold, Elisabeth"],["dc.date.accessioned","2018-11-07T08:31:16Z"],["dc.date.available","2018-11-07T08:31:16Z"],["dc.date.issued","2009"],["dc.description.abstract","We conducted a genome-wide association study involving 224 cases and 383 controls of Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the cleft phenotype, including three markers that reached genome-wide significance. The 640-kb cleft-associated region was saturated with 146 SNP markers and then analyzed in our entire NSCL/P sample of 462 unrelated cases and 954 controls. In the entire sample, the most significant SNP (rs987525) had a P value of 3.34 x 10(-24). The odds ratio was 2.57 (95% CI = 2.02-3.26) for the heterozygous genotype and 6.05 (95% CI = 3.88-9.43) for the homozygous genotype. The calculated population attributable risk for this marker is 0.41, suggesting that this study has identified a major susceptibility locus for NSCL/P."],["dc.identifier.doi","10.1038/ng.333"],["dc.identifier.isi","000264659000023"],["dc.identifier.pmid","19270707"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/17087"],["dc.language.iso","en"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.relation.issn","1061-4036"],["dc.title","Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","267"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","The Cleft Palate-Craniofacial Journal"],["dc.bibliographiccitation.lastpage","271"],["dc.bibliographiccitation.volume","45"],["dc.contributor.author","Reutter, Heiko"],["dc.contributor.author","Birnbaum, Stefanie"],["dc.contributor.author","Lacava, Amalia Diaz"],["dc.contributor.author","Mende, Meinhard"],["dc.contributor.author","Henschke, Henning"],["dc.contributor.author","Bergé, Stefaan"],["dc.contributor.author","Braumann, Bert"],["dc.contributor.author","Lauster, Carola"],["dc.contributor.author","Schiefke, Franziska"],["dc.contributor.author","Wenghoefer, Matthias"],["dc.contributor.author","Saffar, Mitra"],["dc.contributor.author","Reich, Rudolf H."],["dc.contributor.author","Scheer, Martin"],["dc.contributor.author","Kramer, Franz-Josef"],["dc.contributor.author","Knapp, Michael"],["dc.contributor.author","Mangold, Elisabeth"],["dc.date.accessioned","2018-11-07T11:15:24Z"],["dc.date.available","2018-11-07T11:15:24Z"],["dc.date.issued","2008"],["dc.description.abstract","Objective: The 677C -> T allele in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of nonsyndromic cleft lip and palate (CL/P). This study involved a family-based association study of the MTHFR polymorphism. Patients/Participants: We examined 181 patients with CUP of central European descent and their parents for this variant. Results: The transmission disequilibrium test (TDT) did not confirm an association between the MTHFR 677C -> T polymorphism and nonsyndromic CUP as previously suggested (p = .36). When comparing the offspring of mothers with periconceptional use of folate to those without, no statistically significant differences were found (p = .708). Conclusion: Our data suggest that the MTHFR 677C -> T polymorphism does not make a major contribution to the occurrence of CUP among central Europeans."],["dc.identifier.doi","10.1597/06-174"],["dc.identifier.isi","000256241500007"],["dc.identifier.pmid","18452350"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/54358"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.relation.issn","1055-6656"],["dc.title","Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from Central Europe"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]