Brockmann, Knut

[["dc.bibliographiccitation.firstpage","268"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.bibliographiccitation.lastpage","271"],["dc.bibliographiccitation.volume","44"],["dc.contributor.author","Shoukier, Moneef"],["dc.contributor.author","Fuchs, Sigrid"],["dc.contributor.author","Schwaibold, Eva"],["dc.contributor.author","Lingen, Michael"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Zirn, Birgit"],["dc.date.accessioned","2017-09-07T11:47:08Z"],["dc.date.available","2017-09-07T11:47:08Z"],["dc.date.issued","2013"],["dc.description.abstract","Terminal deletions of chromosome 3p26.3 confined to the CHL1 gene have previously been described in children with intellectual disability and epilepsy. Here, we report for the first time, a 3p26.3 duplication including only the CHL1 gene in an intellectually disabled girl with epilepsy. The penetrance of both deletions and duplications in 3p26.3 is reduced because all chromosomal imbalances were inherited from healthy parents. Further studies are needed to specify the pathogenic mechanism of 3p26.3 imbalances and to estimate recurrence risks in genetic counseling. However, the description of both deletions and duplications of chromosome 3p26.3 in nonsyndromic intellectual disability suggests that CHL1 is a dosage-sensitive gene with an important role for normal cognitive development."],["dc.identifier.doi","10.1055/s-0033-1333874"],["dc.identifier.gro","3142278"],["dc.identifier.isi","000324755000006"],["dc.identifier.pmid","23436495"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/6509"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Georg Thieme Verlag Kg"],["dc.relation.issn","0174-304X"],["dc.title","Microduplication of 3p26.3 in Nonsyndromic Intellectual Disability Indicates an Important Role of CHL1 for Normal Cognitive Function"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","772"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","775"],["dc.bibliographiccitation.volume","50"],["dc.contributor.author","Banne, Ehud"],["dc.contributor.author","Atawneh, Osama"],["dc.contributor.author","Henneke, Marco"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Elpeleg, Orly"],["dc.contributor.author","Edvardson, Simon"],["dc.date.accessioned","2017-09-07T11:47:04Z"],["dc.date.available","2017-09-07T11:47:04Z"],["dc.date.issued","2013"],["dc.description.abstract","West syndrome (WS) is an epileptic encephalopathy of childhood, defined by the presence of clustered spasms usually occurring before the age of 1year, hypsarrhythmia on EEG that is notoriously difficult to define, and developmental arrest or regression. The incidence of WS is 1:3200 live births with an aetiology-dependent prognosis. Up to 80% of children with symptomatic WS suffer from mental retardation, and approximately 50% develop Lennox-Gastaut syndrome. Using homozygosity mapping followed by exome sequencing, we identified a ADP-ribosylation factor (ARF) guanine nucleotide-exchange factor two (brefeldin A-inhibited) (ARFGEF2) mutation in five related infants with WS. ARFGEF2 is involved in the activation of ARFs by accelerating replacement of bound guanosine diphosphate (GDP) with Guanosine triphosphate (GTP), and is involved in Golgi transport. A mutation in ARFGEF2 has been previously described only once, causing microcephaly and periventricular heterotopia. Here, we describe a novel ARFGEF2 mutation in five related patients presenting with WS, microcephaly, periventricular heterotopia and thin corpus callosum."],["dc.identifier.doi","10.1136/jmedgenet-2013-101752"],["dc.identifier.gro","3142256"],["dc.identifier.isi","000328141400009"],["dc.identifier.pmid","23812912"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/6265"],["dc.notes.intern","WoS Import 2017-03-10 / Funder: German Research Foundation [Ga354/9-1]"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Bmj Publishing Group"],["dc.relation.eissn","1468-6244"],["dc.relation.issn","0022-2593"],["dc.title","West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","10"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","European Journal of Paediatric Neurology"],["dc.bibliographiccitation.lastpage","16"],["dc.bibliographiccitation.volume","11"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Koehler, Karola"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Stettner, Georg M."],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:49:52Z"],["dc.date.available","2017-09-07T11:49:52Z"],["dc.date.issued","2007"],["dc.description.abstract","Introduction: Epilepsy is very frequent in Rett syndrome (RTT) patients and often difficult to treat. Because most cases of RTT are caused by mutations in the MECP2 gene it is reasonable to assume that convulsions are based on common pathogenetic mechanisms and thus should have a similar response to antiepileptic drugs. Purpose: To find the optimal treatment for epilepsy in RTT. Methods: We performed a retrospective study on 110 female patients with confirmed MECP2 mutations. Results: The median age was 10 years, 58% had a history of epilepsy and 55% received antiepileptic drugs (AEDs). Only sulthiame, carbamazepine and valproate were administered in an adequate frequency to allow statistical analysis. The best anticonvulsive results were seen in the RTT group that was treated with carbamazepine. Sulthiame was slightly less effective while valproate was significantly less effective. The rate of side effects was equivalent in all groups. In conclusion, carbamazepine should be recommended as first choice AED in RTT. If carbamazepine is not effective or not well tolerated sulthiame ought to be taken as second choice AED. (c) 2006 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved."],["dc.identifier.doi","10.1016/j.ejpn.2006.09.003"],["dc.identifier.gro","3143557"],["dc.identifier.isi","000244178200002"],["dc.identifier.pmid","17178248"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1084"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Elsevier Sci Ltd"],["dc.relation.issn","1090-3798"],["dc.title","Treatment of epilepsy in Rett syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","893"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","Neuroradiology"],["dc.bibliographiccitation.lastpage","898"],["dc.bibliographiccitation.volume","48"],["dc.contributor.author","Dreha-Kulaczewski, Steffi F."],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Helms, Gunther"],["dc.contributor.author","Frahm, Jens"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Brockmann, Knut"],["dc.date.accessioned","2017-09-07T11:49:54Z"],["dc.date.available","2017-09-07T11:49:54Z"],["dc.date.issued","2006"],["dc.description.abstract","Introduction Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a complicated form of autosomal-recessive hereditary spastic paraplegia. Characteristic clinical features comprise progressive spastic gait, cognitive impairment, and ataxia. Diagnostic MRI findings include thinning of the corpus callosum and non-progressive white matter (WM) alterations. Methods To study the extent of axonal involvement, we performed localized proton magnetic resonance spectroscopy (MRS) of the cerebral WM and cortical grey matter (GM) in a patient with HSP-TCC at 20 and 25 years of age. The second investigation included diffusion tensor imaging (DTI). Results While MRS of the GM was normal, affected WM was characterized by major metabolic alterations such as reduced concentrations of N-acetylaspartate and N-acetylaspartyl-glutamate, creatine and phosphocreatine, and choline-containing compounds as well as elevated levels of myo-inositol. These abnormalities showed progression over a period of 5 years. DTI revealed increased mean diffusivity as well as reduced fractional anisotropy in periventricular WM. The metabolic and structural findings are consistent with progressive neuroaxonal loss in the WM accompanied by astrocytic proliferation-histopathological changes known to occur in HSP-TCC. Conclusion Our results are in agreement with the hypothesis that the primary pathological process in HSP-TCC affects the axon, possibly due to impaired axonal trafficking."],["dc.identifier.doi","10.1007/s00234-006-0148-2"],["dc.identifier.gro","3143582"],["dc.identifier.isi","000242365500005"],["dc.identifier.pmid","17013586"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1111"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Springer"],["dc.relation.issn","0028-3940"],["dc.title","Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","869"],["dc.bibliographiccitation.issue","6"],["dc.bibliographiccitation.journal","Journal of Inherited Metabolic Disease"],["dc.bibliographiccitation.lastpage","876"],["dc.bibliographiccitation.volume","39"],["dc.contributor.author","Rosewich, Hendrik"],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Krause, Cindy"],["dc.contributor.author","Ohlenbusch, Andreas"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Gärtner, Jutta"],["dc.date.accessioned","2017-09-07T11:44:32Z"],["dc.date.available","2017-09-07T11:44:32Z"],["dc.date.issued","2016"],["dc.description.abstract","Defects in the biogenesis of peroxisomes cause a clinically and genetically heterogeneous group of neurometabolic disorders, the Zellweger syndrome spectrum (ZSS). Diagnosis predominantly is based on characteristic clinical symptoms, a typical biochemical profile, as well as on identification of the molecular defect in any of the 12 known human PEX genes. The diagnostic workup can be hindered if the typical clinical symptoms are missing and predicting the clinical course of a given patient is almost unfeasible. As a safe and noninvasive method to analyze specific chemical compounds in localized brain regions, in vivo proton magnetic resonance spectroscopy (MRS) can provide an indication in this diagnostic process and may help predict the clinical course. However, to date, there are very few reports on this topic. In this study, we performed localized in vivo proton MRS without confounding contributions from T1- and T2-relaxation effects at 2 Tesla in a comparably large group of seven ZSS patients. Patients' absolute metabolite concentrations in cortical gray matter, white matter, and basal ganglia were assessed and compared with age-matched control values. Our results confirm and extend knowledge about in vivo MRS findings in ZSS patients. Besides affirmation of nonspecific reduction of N-acetylaspartate + N-acetylaspartylglutamate (tNAA) in combination with lipid accumulation as a diagnostic hint for this disease group, the amount of tNAA loss seems to reflect disease burden and may prove to be of prognostic value regarding the clinical course of an already diagnosed patient."],["dc.identifier.doi","10.1007/s10545-016-9965-6"],["dc.identifier.gro","3141599"],["dc.identifier.isi","000386383500011"],["dc.identifier.pmid","27488561"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/10"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Springer"],["dc.relation.eissn","1573-2665"],["dc.relation.issn","0141-8955"],["dc.title","Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","258"],["dc.bibliographiccitation.issue","2"],["dc.bibliographiccitation.journal","Clinical Genetics"],["dc.bibliographiccitation.lastpage","266"],["dc.bibliographiccitation.volume","89"],["dc.contributor.author","Lingen, M."],["dc.contributor.author","Albers, L."],["dc.contributor.author","Borchers, M."],["dc.contributor.author","Haass, S."],["dc.contributor.author","Gärtner, J."],["dc.contributor.author","Schroeder, S."],["dc.contributor.author","Goldbeck, L."],["dc.contributor.author","Kries, R. von"],["dc.contributor.author","Brockmann, K."],["dc.contributor.author","Zirn, B."],["dc.date.accessioned","2017-09-07T11:54:41Z"],["dc.date.available","2017-09-07T11:54:41Z"],["dc.date.issued","2016"],["dc.description.abstract","Recent progress in genetic testing has facilitated obtaining an etiologic diagnosis in children with developmental delay/intellectual disability (DD/ID) or multiple congenital anomalies (MCA) or both. Little is known about the benefits of diagnostic elucidation for affected families. We studied the impact of a genetic diagnosis on parental quality of life (QoL) using a validated semiquantitative questionnaire in families with a disabled child investigated by array-based comparative genomic hybridization (aCGH). We received completed questionnaires from 95 mothers and 76 fathers of 99 families. We used multivariate analysis for adjustment of potential confounders. Taken all 99 families together, maternal QoL score (percentile rank scale 51.05) was significantly lower than fathers' QoL (61.83, p = 0.01). Maternal QoL score was 20.17 [95% CI (5.49; 34.82)] percentile rank scales higher in mothers of children with diagnostic (n = 34) aCGH as opposed to mothers of children with inconclusive (n = 65) aCGH (Hedges' g = 0.71). Comparison of these QoL scores with retrospectively recalled QoL before aCGH revealed an increase of maternal QoL after diagnostic clarification. Our results indicate a benefit for maternal QoL if a genetic test, here aCGH, succeeds to clarify the etiologic diagnosis in a disabled child."],["dc.identifier.doi","10.1111/cge.12629"],["dc.identifier.gro","3141738"],["dc.identifier.isi","000368806900018"],["dc.identifier.pmid","26084449"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/524"],["dc.language.iso","en"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.eissn","1399-0004"],["dc.relation.issn","0009-9163"],["dc.title","Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","786"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Epilepsia"],["dc.bibliographiccitation.lastpage","789"],["dc.bibliographiccitation.volume","46"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Huppke, Peter"],["dc.contributor.author","Karenfort, M"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Hoger, C."],["dc.date.accessioned","2017-09-07T11:54:27Z"],["dc.date.available","2017-09-07T11:54:27Z"],["dc.date.issued","2005"],["dc.description.abstract","Purpose: To describe a previously unreported type of self-induced pattern-sensitive seizures in a child. Methods: Evaluation of clinical and EEG features. Results: An 18-month-old boy was initially seen with series of short focal tonic seizures self-induced by gazing intermittently at round objects. Self-induction of these seizures had an obvious relieving effect on the child. Covering the round object foiled further seizures but resulted in a tantrum. Later in the course, an increasing variety of patterns proved to be capable of inducing seizures, which occurred with increasing frequency and severity, including secondarily generalized tonic-clonic seizures. Interictal EEG revealed multifocal sharp-and-slow-waves. Ictal EEG showed no abnormalities during short focal seizures and rapidly generalizing epileptic discharges during a secondarily generalized seizure. No photosensitivity was noted. Motor and mental development of the boy stagnated over a period of 2 years. Behavioral therapy as well as medical treatment, consisting of various combinations of antiepileptic drugs (AEDs) together with a selective serotonin-reuptake inhibitor, were of merely transient benefit. Only combined pharmacotherapy, including valproate, sulthiame, and clobazam, resulted in seizure control at age 3 years 9 months. Conclusions: Visual capture of geometric patterns other than stripes or gratings may trigger focal seizures with secondary generalization. Synchronization of cortical neurons responsible for pattern recognition may account for epileptogenesis in this child."],["dc.identifier.doi","10.1111/j.1528-1167.2005.54004.x"],["dc.identifier.gro","3143857"],["dc.identifier.isi","000228560000027"],["dc.identifier.pmid","15857450"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/1417"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Blackwell Publishing Inc"],["dc.relation.issn","0013-9580"],["dc.title","Visually self-induced seizures sensitive to round objects"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1785"],["dc.bibliographiccitation.issue","22"],["dc.bibliographiccitation.journal","Neurology"],["dc.bibliographiccitation.lastpage","1789"],["dc.bibliographiccitation.volume","74"],["dc.contributor.author","Henneke, M."],["dc.contributor.author","Gegner, S."],["dc.contributor.author","Hahn, A."],["dc.contributor.author","Plecko-Startinig, B."],["dc.contributor.author","Weschke, B."],["dc.contributor.author","Gärtner, J."],["dc.contributor.author","Brockmann, K."],["dc.date.accessioned","2022-03-01T11:44:04Z"],["dc.date.available","2022-03-01T11:44:04Z"],["dc.date.issued","2010"],["dc.description.abstract","Background: Among the hypomyelinating leukoencephalopathies with onset in childhood, Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD) constitute a large subgroup with almost indistinguishable clinical and neuroradiologic features. Whereas PMD is due to X-linked PLP1 mutations, PMLD is genetically heterogeneous, with about 8% of patients carrying autosomal recessive GJA12/GJC2 mutations. The aim of this study was to evaluate whether neurophysiologic testing may separate PMD from GJA12/GJC2-associated PMLD. Methods: Retrospective data collection study with reevaluation of evoked potentials (EP) and nerve conduction studies (NCS) in 10 patients from 7 families with PMLD due to various GJA12/GJC2 mutations and 8 boys from 7 families with classic PMD caused by a PLP1 duplication or missense mutation. Results: In brainstem auditory EP, waves III-V were absent in all patients with PMD, but clearly recordable in 11 of 13 investigations in 8 patients with PMLD. Visual evoked potentials and somatosensory evoked potentials revealed conduction delay in both PMD and PMLD, without significant difference. NCS were normal in all patients with PMD and indicated mild peripheral neuropathy in only 2 of 10 patients with PMLD. Conclusion: In a patient with clinical and neuroradiologic features of Pelizaeus-Merzbacher disease/Pelizaeus-Merzbacher-like disease and a pedigree consistent with both conditions, brainstem auditory evoked potentials provide good selectivity between these disorders and point in the right direction for identifying the primary genetic defect. Neurology(R) 2010;74:1785-1789"],["dc.identifier.doi","10.1212/WNL.0b013e3181e0f820"],["dc.identifier.gro","3142917"],["dc.identifier.isi","000278154800007"],["dc.identifier.pmid","20513814"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/102918"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-531"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Lippincott Williams & Wilkins"],["dc.relation.eissn","1526-632X"],["dc.relation.issn","0028-3878"],["dc.title","Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","234"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Neuropediatrics"],["dc.bibliographiccitation.lastpage","238"],["dc.bibliographiccitation.volume","40"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Groeschel, Sonja"],["dc.contributor.author","Dreha-Kulaczewski, Steffi F."],["dc.contributor.author","Reinhardt, Konstanze"],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Dechent, Peter"],["dc.date.accessioned","2017-09-07T11:46:49Z"],["dc.date.available","2017-09-07T11:46:49Z"],["dc.date.issued","2009"],["dc.description.abstract","Observations of extreme unilateral widening of Virchow-Robin spaces (VRS) are rare and hitherto confined to adult, mainly old-aged patients. Magnetic resonance imaging (MRI) was performed in two unrelated boys aged 3 years with developmental coordination disorders. In one of these patients, follow-up MRI and diffusion tensor imaging (DTI) were carried out 5 years later. In both boys, MRI incidentally revealed numerous intracerebral cysts strictly confined to one hemisphere. Localization, size, shape, and signal isointensity to cerebrospinal fluid indicated unilateral marked widening of VRS. In one patient, follow-up investigation after 5 years showed unchanged dilation of VRS on MRI, but mild facial hemihypertrophy, ipsilateral to the widened VRS. DTI indicated displacement rather than disruption of fiber tracks adjacent to the dilated VRS. Unilateral widening of VRS may be detected fortuitously on neuroimaging already in early childhood."],["dc.identifier.doi","10.1055/s-0029-1246158"],["dc.identifier.gro","3143051"],["dc.identifier.isi","000275698300006"],["dc.identifier.pmid","20221960"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/522"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Georg Thieme Verlag Kg"],["dc.relation.issn","0174-304X"],["dc.title","Unilateral Dilation of Virchow-Robin Spaces in Early Childhood"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","53"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Clinical Genetics"],["dc.bibliographiccitation.lastpage","65"],["dc.bibliographiccitation.volume","83"],["dc.contributor.author","Shoukier, M."],["dc.contributor.author","Klein, Nadja"],["dc.contributor.author","Auber, B."],["dc.contributor.author","Wickert, J."],["dc.contributor.author","Schroeder, J."],["dc.contributor.author","Zoll, Barbara"],["dc.contributor.author","Burfeind, P."],["dc.contributor.author","Bartels, I."],["dc.contributor.author","Alsat, E. A."],["dc.contributor.author","Lingen, M."],["dc.contributor.author","Grzmil, P."],["dc.contributor.author","Schulze, S."],["dc.contributor.author","Keyser, J."],["dc.contributor.author","Weise, Dagmar"],["dc.contributor.author","Borchers, M."],["dc.contributor.author","Hobbiebrunken, E."],["dc.contributor.author","Roebl, M."],["dc.contributor.author","Gärtner, Jutta"],["dc.contributor.author","Brockmann, Knut"],["dc.contributor.author","Zirn, Birgit"],["dc.date.accessioned","2017-09-07T11:48:19Z"],["dc.date.available","2017-09-07T11:48:19Z"],["dc.date.issued","2013"],["dc.description.abstract","Array comparative genomic hybridization (array CGH) is now widely adopted as a first-tier clinical diagnostic test in individuals with unexplained developmental delay/intellectual disability (DD/ID) and congenital anomalies. Our study aimed at enlarging the phenotypic spectrum associated with clinically relevant copy number variants (CNVs) as well as delineating clinical criteria, which may help separating patients with pathogenic CNVs from those without pathogenic CNVs. We performed a retrospective review of clinical and array CGH data of 342 children with unexplained DD/ID. The phenotypic features of patients with clinically significant CNV were compared with those without pathogenic CNVs. Array CGH detected pathogenic CNVs in 13.2% of the patients. Congenital anomalies, especially heart defects, as well as primary microcephaly, short stature and failure to thrive were clearly more frequent in children with pathogenic CNVs compared with children with normal array CGH results. Thus, we assume that in patients with unexplained DD/ID, array CGH will more probably detect a significant CNV if any of these features is part of the patient's phenotype."],["dc.identifier.doi","10.1111/j.1399-0004.2012.01850.x"],["dc.identifier.gro","3142418"],["dc.identifier.isi","000312544000011"],["dc.identifier.pmid","22283495"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/8063"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.issn","0009-9163"],["dc.title","Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]