Huppke, Peter

[["dc.bibliographiccitation.firstpage","234"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","Human Mutation"],["dc.bibliographiccitation.lastpage","244"],["dc.bibliographiccitation.volume","23"],["dc.contributor.author","Laccone, Franco A."],["dc.contributor.author","Junemann, I."],["dc.contributor.author","Whatley, S."],["dc.contributor.author","Morgan, R."],["dc.contributor.author","Butler, R."],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Ravine, D."],["dc.date.accessioned","2018-11-07T10:52:37Z"],["dc.date.available","2018-11-07T10:52:37Z"],["dc.date.issued","2004"],["dc.description.abstract","MECP2 mutations are responsible for Rett syndrome (RTT). Approximately a quarter of classic RTT cases, however, do not have an identifiable mutation of the MECP2 gene. We hypothesized that larger deletions arising from a deletion prone region (DPR) occur commonly and are not being routinely detected by the current PCR-mediated screening strategies. We developed and applied a quantitative PCR strategy (qPCR) to samples referred for diagnostic assessment from 140 patients among whom RTT was strongly suspected and from a second selected group of 31 girls with classical RTT. Earlier MECP2 mutation screening in both groups of patients had yielded a wild,type result. We identified 10 large deletions (7.1%) within the first group and five deletions in the second group (16.1%). Sequencing of the breakpoints in 11 cases revealed that eight cases had one breakpoint within the DPR. Among seven cases, the breakpoint distant to the DPR involved one of several Alu repeats. Sequence analysis of the junction sequences revealed that eight cases had complex rearrangements. Examination of the MECP2 genomic sequence reveals that it is highly enriched for repeat elements, with the content of Alu repeats rising to 27.8% in intron 2, in which there was an abundance of breakpoints among our patients. Furthermore, a perfect chi sequence, known to be recombinogenic in E. coli, is located in the DPR. We propose that the chi sequence and Alu repeats are potent factors contributing to genomic rearrangement. We suggest that routine mutation screening in MECP2 should include quantitative analysis of the genomic sequences flanking the DPR. (C) 2004 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/humu.20004"],["dc.identifier.isi","000220019900005"],["dc.identifier.pmid","14974082"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/49153"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1059-7794"],["dc.title","Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Human Mutation"],["dc.bibliographiccitation.volume","23"],["dc.contributor.author","Laccone, Franco A."],["dc.contributor.author","Junemann, I."],["dc.contributor.author","Whatley, S."],["dc.contributor.author","Morgan, R."],["dc.contributor.author","Butler, R."],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Ravine, D."],["dc.date.accessioned","2018-11-07T10:52:37Z"],["dc.date.available","2018-11-07T10:52:37Z"],["dc.date.issued","2004"],["dc.format.extent","395"],["dc.identifier.doi","10.1002/humu.20042"],["dc.identifier.isi","000220471700014"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/49155"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1098-1004"],["dc.relation.issn","1059-7794"],["dc.title","Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome (vol 23, pg 234, 2003)"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1369"],["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","Human Molecular Genetics"],["dc.bibliographiccitation.lastpage","1375"],["dc.bibliographiccitation.volume","9"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Laccone, Franco A."],["dc.contributor.author","Kramer, N."],["dc.contributor.author","Engel, Wolfgang"],["dc.contributor.author","Hanefeld, Folker"],["dc.date.accessioned","2018-11-07T10:50:39Z"],["dc.date.available","2018-11-07T10:50:39Z"],["dc.date.issued","2000"],["dc.description.abstract","Only recently have mutations in MECP2 been found to be a cause of Rett Syndrome (RTT), a neurodevelopmental disorder characterized by mental retardation, loss of expressive speech, deceleration of head growth and loss of acquired skills that almost exclusively affects females. We analysed the MECP2 gene in 31 patients diagnosed with RTT. Sequencing of the coding region and the splice sites revealed mutations in 24 females (77.40%). However, no abnormalities were detected in any of the parents that were available for investigation. Eleven mutations have not been described previously. Confirming two earlier studies, we found that most mutations are truncating and only a few of them are missense mutations. Several females carrying the same mutation display different phenotypes indicating that factors other than the type or position of mutations influence the severity of RTT. Four females with RTT variants were included in the study. Three of these presented with preserved speech while the fourth patient with congenital RTT lacked the initial period of normal development. Detection of mutations in these cases reveals that they are indeed variants of RTT. They represent the mild and the severe extremes of RTT. Conclusions: mutations in MECP2 seem to be the main cause for RTT and can be expected to be found in similar to 77% of patients that fulfil the criteria for RTT. Therefore analysis of MECP2 should be performed if RTT is suspected. Three mutation hotspots (T158M, R168X and R255X) were confirmed and a further one (R270X) newly identified. We recommend screening for these mutations before analysing the coding region."],["dc.identifier.doi","10.1093/hmg/9.9.1369"],["dc.identifier.isi","000087354800011"],["dc.identifier.pmid","10814718"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/48703"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Oxford Univ Press"],["dc.relation.issn","0964-6906"],["dc.title","Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","814"],["dc.bibliographiccitation.issue","10"],["dc.bibliographiccitation.journal","Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","816"],["dc.bibliographiccitation.volume","43"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Maier, E. M."],["dc.contributor.author","Warnke, Andreas"],["dc.contributor.author","Brendel, Cornelia"],["dc.contributor.author","Laccone, F."],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:52:33Z"],["dc.date.available","2017-09-07T11:52:33Z"],["dc.date.issued","2006"],["dc.description.abstract","Background: Rett syndrome, a common cause of mental retardation in females, is caused by mutations in the MECP2 gene. Most females with MECP2 mutations fulfil the established clinical criteria for Rett syndrome, but single cases of asymptomatic carriers have been described. It is therefore likely that there are individuals falling between these two extreme phenotypes. Objective: To describe three patients showing only minor symptoms of Rett syndrome. Findings: The patient with the best intellectual ability had predominantly psychiatric problems with episodes of uncontrolled aggression that have not been described previously in individuals with MECP2 mutations. All three patients had normal hand function, communicated well, and showed short spells of hyperventilation only under stress. Diagnosis in such individuals requires the identification of subtle signs of Rett syndrome in girls with a mild mental handicap. Analysis of the MECP2 gene revealed mutations that are often found in classical Rett syndrome. Skewed X inactivation was present in all three cases, which may explain the mild phenotype. Conclusions: Because of skewed X inactivation, the phenotype of Rett patients may be very mild and hardly recognisable."],["dc.identifier.doi","10.1136/jmg.2006.042077"],["dc.identifier.gro","3143617"],["dc.identifier.isi","000241693600007"],["dc.identifier.pmid","16690727"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1151"],["dc.language.iso","en"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","0022-2593"],["dc.title","Very mild cases of Rett syndrome with skewed X inactivation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","136"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","138"],["dc.bibliographiccitation.volume","137A"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Brendel, Cornelia"],["dc.contributor.author","Laccone, F"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:54:18Z"],["dc.date.available","2017-09-07T11:54:18Z"],["dc.date.issued","2005"],["dc.description.abstract","Mutations in the MECP2 gene are found in only 80% of patients with Rett syndrome (RTT). Therefore other genes have to be involved in the pathogenesis of RTT. By using our defined diagnostic criteria we first re-evaluated 50 girls with possible RTT in whom the sequencing of the MECP2 gene had not revealed any mutations. Only 15 of theses patients fulfilled all criteria for RTT and could be considered to have classical RTT. In eight of these, further molecular analyses revealed large deletions of the MECP2 gene. In the remaining seven girls we then analyzed the genes HDAC1, HDAC2, and HDAC8 that encode for the histone deacetylases 1, 2, and 8 which interact with McCP2 and are essential for its function. Although these histone deacetylase genes have been considered as good candidate genes for RTT, our molecular analysis of these genes did not detect any mutations. Because recently mutations in CDKL5 were reported in patients with RTT, we included this gene in our analysis but failed to detect any mutations. We conclude that only a subgroup of girls with possible RTT and no detectable mutation in the sequencing of the MECP2 gene do really have classical RTT. In many of those large MECP2 gene deletions can be detected by further analysis. The genes HDAC1, HDAC2, and HDAC8 do not seem to play a role in the pathogenesis of RTT and at least in our subgroup no mutations in the CDKL5 gene were detected. (c) 2005 Wiley-Liss, Inc."],["dc.identifier.doi","10.1002/ajmg.a.30764"],["dc.identifier.gro","3143813"],["dc.identifier.isi","000231634600004"],["dc.identifier.pmid","16086395"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1369"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Wiley-liss"],["dc.relation.issn","1552-4825"],["dc.title","Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","63"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.bibliographiccitation.lastpage","68"],["dc.bibliographiccitation.volume","33"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Held, M."],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","Engel, Wolfgang"],["dc.contributor.author","Laccone, Franco A."],["dc.date.accessioned","2018-11-07T10:31:00Z"],["dc.date.available","2018-11-07T10:31:00Z"],["dc.date.issued","2002"],["dc.description.abstract","Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects girls. It is caused by mutations in the MECP2 gene that encodes the methyl-CpG-binding protein 2 (MeCP2). In this study we correlated mutation type and location with the severity of the phenotype in 123 girls with RTT. The ability to sit, walk, speak, hand function, head growth, occurrence of epilepsy and a combined severity score were assessed in all girls at 5 years of age and then statistically correlated with the results of the molecular genetic tests. We found that patients who carry either missense mutations or deletions located within the hotspot for deletions, an area between the base pairs (bp) 1030 and 1207 of the MECP2 gene, present with a milder phenotype than other patients. We correlated the location of the mutations with the phenotype and found that all mutations that lead to either a complete or partial truncation of the region coding for the nuclear localisation signal (NLS) are associated with a more severe phenotype than other truncating mutations (p = 0.001). We did not find a significant difference between the patients with mutations in the methyl-CpG-binding domain (MBD) and those with mutations in the transcriptional repression domain (TRD). We conclude that mutation type and location correlate with the phenotype in Rett syndrome. All mutations that impair the nuclear localisation signal (NLS) are associated with more severe phenotypes."],["dc.identifier.doi","10.1055/s-2002-32365"],["dc.identifier.isi","000176277500002"],["dc.identifier.pmid","12075485"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/43997"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Georg Thieme Verlag Kg"],["dc.relation.issn","0174-304X"],["dc.title","Influence of mutation type and location on phenotype in 123 patients with Rett syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","332"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","The Journal of Pediatrics"],["dc.bibliographiccitation.lastpage","335"],["dc.bibliographiccitation.volume","142"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Kohler, K."],["dc.contributor.author","Laccone, Franco A."],["dc.contributor.author","Hanefeld, Folker"],["dc.date.accessioned","2018-11-07T10:40:38Z"],["dc.date.available","2018-11-07T10:40:38Z"],["dc.date.issued","2003"],["dc.description.abstract","Objective We reevaluated 49 girls with either Rett syndrome (RTT) or features of RTT who had negative test results for mutations in the MECP2 gene and compared them with 49 girls who had positive test results. The girls with MECP2-positive results included 2 girls with forme fruste and 2 with congenital RTT. Study design Based on the original diagnostic criteria for RTT, we developed a 10-item checklist with a score ranging from 0 to 12. Results If only girls with a score of 8 or more had been tested, 46% of the girls without mutations would have been excluded from testing without missing a single girl with MECP-positive results. Conclusions This checklist provides a simple aid for deciding whether or not a genetic test for RTT should be performed with only a minimal risk of missing girls with MECP-positive results."],["dc.identifier.doi","10.1067/mpd.2003.96"],["dc.identifier.isi","000181748600025"],["dc.identifier.pmid","12640384"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/46349"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Mosby-elsevier"],["dc.relation.issn","1097-6833"],["dc.relation.issn","0022-3476"],["dc.title","Indication for genetic testing: A checklist for Rett syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","451"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","456"],["dc.bibliographiccitation.volume","43"],["dc.contributor.author","Archer, H. L."],["dc.contributor.author","Whatley, S. D."],["dc.contributor.author","Evans, J. C."],["dc.contributor.author","Ravine, D."],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Kerr, A."],["dc.contributor.author","Bunyan, D."],["dc.contributor.author","Kerr, B."],["dc.contributor.author","Sweeney, E."],["dc.contributor.author","Davies, S. J."],["dc.contributor.author","Reardon, W."],["dc.contributor.author","Horn, J."],["dc.contributor.author","MacDermot, K. D."],["dc.contributor.author","Smith, R. A."],["dc.contributor.author","Magee, A."],["dc.contributor.author","Donaldson, A."],["dc.contributor.author","Crow, Y."],["dc.contributor.author","Hermon, G."],["dc.contributor.author","Miedzybrodzka, Z."],["dc.contributor.author","Cooper, David N."],["dc.contributor.author","Lazarou, L."],["dc.contributor.author","Butler, R."],["dc.contributor.author","Sampson, J."],["dc.contributor.author","Pilz, Daniela T."],["dc.contributor.author","Laccone, Franco A."],["dc.contributor.author","Clarke, Angus J."],["dc.date.accessioned","2018-11-07T09:53:14Z"],["dc.date.available","2018-11-07T09:53:14Z"],["dc.date.issued","2006"],["dc.description.abstract","MECP2 mutations are identifiable in similar to 80% of classic Rett syndrome (RTT), but less frequently in atypical RTT. We recruited 110 patients who fulfilled the diagnostic criteria for Rett syndrome and were referred to Cardiff for molecular analysis, but in whom an MECP2 mutation was not identifiable. Dosage analysis of MECP2 was carried out using multiplex ligation dependent probe amplification or quantitative fluorescent PCR. Large deletions were identified in 37.8% (14/37) of classic and 7.5% (4/53) of atypical RTT patients. Most large deletions contained a breakpoint in the deletion prone region of exon 4. The clinical phenotype was ascertained in all 18 of the deleted cases and in four further cases with large deletions identified in Goettingen. Five patients with large deletions had additional congenital anomalies, which was significantly more than in RTT patients with other MECP2 mutations (2/193; p < 0.0001). Quantitative analysis should be included in molecular diagnostic strategies in both classic and atypical RTT."],["dc.identifier.doi","10.1136/jmg.2005.033464"],["dc.identifier.isi","000237144100013"],["dc.identifier.pmid","16183801"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/36291"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.relation.issn","0022-2593"],["dc.title","Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1093"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","The American Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","1101"],["dc.bibliographiccitation.volume","68"],["dc.contributor.author","Trappe, Ralf"],["dc.contributor.author","Laccone, Franco A."],["dc.contributor.author","Cobilanschi, J."],["dc.contributor.author","Meins, M."],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Hanefeld, Folker"],["dc.contributor.author","Engel, Wolfgang"],["dc.date.accessioned","2018-11-07T09:05:00Z"],["dc.date.available","2018-11-07T09:05:00Z"],["dc.date.issued","2001"],["dc.description.abstract","Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that apparently is lethal in male embryos. RTT almost exclusively affects female offspring and, in 99.5% of all cases, is sporadic and due to de novo mutations in the MECP2 gene. Familial cases of RTT are rare and are due to X-chromosomal inheritance from a carrier mother. We analyzed the parental origin of MECP2 mutations in sporadic cases of RTT, by analysis of linkage between the mutation in the MECP2 gene and intronic polymorphisms in 27 families with 15 different mutations, and we found a high predominance of mutations of paternal origin in 26 of 27 cases (P < .001). The paternal origin was independent of type of mutation and was found for single-base exchanges as well as for deletions. Parents were not of especially advanced age. We conclude that de novo mutations in RTT occur almost exclusively on the paternally derived X chromosome and that this is most probably the cause for the high female: male ratio observed in patients with RTT. Affected males recently have been described in a few cases of familial inheritance. Identification of the parental origin may be useful to distinguish between the sporadic form of RTT and a potentially familial form. This distinction will allow geneticists to offer more-specific counseling and discriminate between higher (maternal origin) and lower (paternal origin) recurrence risk."],["dc.identifier.doi","10.1086/320109"],["dc.identifier.isi","000168171200003"],["dc.identifier.pmid","11309679"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/25226"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Univ Chicago Press"],["dc.relation.issn","0002-9297"],["dc.title","MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","105"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.bibliographiccitation.lastpage","108"],["dc.bibliographiccitation.volume","33"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Bohlander, S. K."],["dc.contributor.author","Kramer, N."],["dc.contributor.author","Laccone, Franco A."],["dc.contributor.author","Hanefeld, Folker"],["dc.date.accessioned","2018-11-07T10:31:01Z"],["dc.date.available","2018-11-07T10:31:01Z"],["dc.date.issued","2002"],["dc.description.abstract","Rett syndrome (RTT) is a neurodevelopmental disorder that almost exclusively affects girls. Recently mutations in MECP2, that encodes the methyl CpG binding protein 2 (MeCP2), have been found to cause RTT. MeCP2 has a role in gene silencing. It binds to methylated cytosine in the DNA and recruits histone deacetylases. We studied the methylation pattern of the promoters of two X chromosomal genes, G6PD and SYBL1, in patients with RTT and in a control group. Both genes undergo X inactivation which correlates with promoter methylation. A 1 : 1 ratio of methylated versus non-methylated alleles was expected. In the control group a median ratio of 47:53 of methylated to non-methylated alleles was found at the GGPD promoter locus. In 22 patients with RT7 the median ratio was significantly different, 33:67 (p < 0.0001). Analysis of the SYBL1 promoter revealed an almost identical median ratio of methylated versus non-methylated alleles (RTT 47: 53; control 49: 51), however, the range was wider in the RTT group (RTT 23:77 to 56:44; control 43: 57 to 55:45). There was no apparent correlation between G6PD promoter methylation status and mutations in the MeCP2 gene or the severity of the clinical phenotype in our patient group. The finding of reduced methylation at the G6 PD promoter is an interesting finding and suggests that there could be widespread dysregulation of X chromosomal genes in Rett syndrome."],["dc.identifier.doi","10.1055/s-2002-32373"],["dc.identifier.isi","000176277500011"],["dc.identifier.pmid","12075494"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/43998"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Georg Thieme Verlag Kg"],["dc.relation.issn","0174-304X"],["dc.title","Altered methylation pattern of the G6 PD promoter in Rett syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]