Research Topics
Genomes and Genes
| Eva KlopockiSummaryAffiliation: Charite Universit?tsmedizin Berlin Location: Berlin, Germany Publications
| Collaborators
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Detail Information
Publications
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGHEva Klopocki
Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany
Eur J Pediatr 167:903-8. 2008..We present a genotype-phenotype correlation and comparison with patients from the literature...
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesisFanny Kortüm
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Campus Forschung, Martinistrase 52, 20246 Hamburg, Germany
J Med Genet 48:396-406. 2011..This study aimed to further characterise and delineate the phenotype of FOXG1 mutation positive patients...- Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the youngKlemens Raile
Department of Pediatric Endocrinology and Diabetes, Charite Campus Virchow, 13353 Berlin, Germany
J Clin Endocrinol Metab 94:2658-64. 2009..We aimed to investigate detailed clinical features and the type of HNF1B gene anomaly in five pediatric cases with HNF1B-MODY... - Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2Katarina Dathe
Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
Am J Hum Genet 84:483-92. 2009..Our results reveal an additional functional mechanism for the pathogenesis of BDA2, which is duplication of a regulatory element that affects the expression of BMP2 in the developing limb... - Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellumJuliane Najm
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, 20246 Hamburg, Germany
Nat Genet 40:1065-7. 2008..All five affected individuals with CASK mutations had congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation... 
HNF1B abnormality (mature-onset diabetes of the young 5) in children and adolescents: high prevalence in autoantibody-negative type 1 diabetes with kidney defectsKlemens Raile
Diabetes Care 31:e83. 2008- Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patientsChayim Can Schell-Apacik
Institute of Social Pediatrics and Adolescent Medicine of the University of Munich, Munchen, Germany
Am J Med Genet A 146:2501-11. 2008..In our series of cases a variety of genetic causes of disorders of the corpus callosum were identified with cytogenetic anomalies representing the most common underlying etiology... - A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contracturesAndreas Busche
Charite Universitatsmedizin Berlin, Institute of Medical Genetics, Berlin, Germany
Eur J Med Genet 51:615-21. 2008..These features are not allegeable by the deletion 9q34.3 identified in the patient reported here and may be a hint that terminal duplication of 2p could be associated with exophthalmos and contractures... - De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardationVéronique Dutrannoy
Institut fur Humangenetik, Charite Universitatsmedizin, Berlin, Germany
Eur J Med Genet 52:450-3. 2009..Mutations within this gene are associated with postlingual sensorineural hearing loss. The sequencing of the breakpoint indicated non homologous end joining as the most likely mechanism leading to the rearrangement... - Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychiaIngo Kurth
Nat Genet 41:862-3. 2009 - Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplicationsOliver Bartsch
Institut fur Humangenetik, Universitätsmedizin der Johannes Gutenberg Universität Mainz, Mainz, Germany
Am J Med Genet A 152:305-12. 2010..Because injection of botulinum toxin (BT-A; Botox) proved to be extremely helpful for patient 1, we recommend consideration of Botox treatment in other patients with MRXSL and severe joint contractures... - A BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in the lymphoma cell line BLUE-1Seval Turkmen
Institut fur Medizinische Genetik, Charité CVK, Berlin, Germany
Genes Chromosomes Cancer 50:389-96. 2011..Moreover, it suggests that members of the BCL2 anti-apoptosis gene family other than BCL2 itself might also be involved in lymphoma... - Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short statureAndreas Busche
Institute of Human Genetics, University Hospital Freiburg, Freiburg, Germany
Eur J Med Genet 54:256-61. 2011..In the two patients with larger microdeletions, severe mental retardation and significant short stature are present. Facial dysmorphism of patient 3 includes also signs of blepharophimosis-ptosis-epicanthus inversus syndrome... - Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosisEva Klopocki
Institute for Medical Genetics, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
Am J Hum Genet 88:70-5. 2011..We postulate that the observed duplications lead to a misexpression and/or overexpression of IHH and by this affect the complex regulatory signaling network during digit and skull development... - Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficitsDenise Horn
Institute of Medical Genetics, Charite, University Medicine of Berlin, Berlin, Germany
Hum Mutat 31:E1851-60. 2010..Both FOXP1 and FOXP2 are expressed in songbird and human brain regions that are important for the developmental processes that culminate in speech and language... - Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasiaClaus E Ott
Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
Hum Mutat 31:E1587-93. 2010..We therefore suggest that screening for intragenic deletions and duplications by qPCR or MLPA should be considered for patients with CCD phenotype in whom DNA sequencing does not reveal a causative RUNX2 mutation... - Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2qPiranit N Kantaputra
Department of Pediatric Dentistry, Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand
Eur J Hum Genet 18:1310-4. 2010..We propose that MDK is caused by duplications that modify the topography of the locus and as such result in deregulation of HOXD gene expression... - Deletion and point mutations of PTHLH cause brachydactyly type EEva Klopocki
Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
Am J Hum Genet 86:434-9. 2010..Thus, loss-of-function mutations in PTHLH cause BDE with short stature... - Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by PyrosequencingMarcel Kramer
Leibniz Institute for Age Research Fritz Lipmann Institute, Genome Analysis, Beutenbergstr 11, Jena, Germany
Gene 455:1-7. 2010..This finding is discussed in view of the relocation of RABL2A from its ancestral telomeric to its pericentromeric location in human... - Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4E Steichen-Gersdorf
Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria
Clin Genet 74:560-5. 2008..Haploinsufficiency for LAF4/AFF3 is associated with limb, brain and urogenital malformations and specific changes of the tibia that are part of the NS spectrum... - Catel-Manzke syndrome: two new patients and a critical review of the literatureHermann Manzke
Privat, Heikendorf, Germany
Eur J Med Genet 51:452-65. 2008..In addition, we sequenced candidate genes which are known to be involved in phalangeal development. However, no pathogenic aberrations or mutations were found... - Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 geneEva Klopocki
Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany
Eur J Hum Genet 14:1274-9. 2006..We suggest that the UMS phenotype in conjunction with the characteristic facial changes and mental retardation observed in our patient is owing to the deletion of TBX3 and the involvement of neighbouring genes... - A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2Eva Klopocki
Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
Am J Med Genet A 140:873-7. 2006..This is the first report of array-CGH analysis of an interstitial deletion at chromosome 8p... - Aberrant methylation of the Wnt antagonist SFRP1 in breast cancer is associated with unfavourable prognosisJ Veeck
Institute of Pathology, University Hospital of the RWTH Aachen, Aachen, Germany
Oncogene 25:3479-88. 2006..Our results indicate that promoter hypermethylation is the predominant mechanism of SFRP1 gene silencing in human breast cancer and that SFRP1 gene inactivation in breast cancer is associated with unfavourable prognosis... - Systematic identification and molecular characterization of genes differentially expressed in breast and ovarian cancerEdgar Dahl
Institute of Pathology, RWTH Aachen, Germany
J Pathol 205:21-8. 2005..The majority of these differentially expressed genes have not been described previously in the context of breast and ovarian cancer, and may constitute novel diagnostic markers for these tumour entities... - Distinct secreted Frizzled receptor protein 1 staining pattern in patients with hyperplastic polyposis coli syndromeBarbara I Oberschmid
Institute of Pathology, University of Regensburg, Germany
Arch Pathol Lab Med 128:967-73. 2004..Hypermethylation of the secreted Frizzled receptor protein 1 gene on chromosome 8p12 is one of the earliest molecular alterations in colorectal carcinogenesis, potentially disrupting the Wnt signaling cascade of cellular growth control... - Loss of SFRP1 is associated with breast cancer progression and poor prognosis in early stage tumorsEva Klopocki
, Berlin, Germany
Int J Oncol 25:641-9. 2004..04). In conclusion, expression of SFRP1 is commonly lost in breast cancer. SFRP1 expression might be useful as a novel prognostic marker in early stage breast cancer... - Deletions of chromosome 8p and loss of sFRP1 expression are progression markers of papillary bladder cancerRobert Stoehr
Institute of Pathology, University of Regensburg, Regensburg, Germany
Lab Invest 84:465-78. 2004..The sFRP1 gene on chromosome 8p12-11.1 could be a candidate gene for the predicted, progression-related tumor suppressor gene in bladder cancer and could contribute to urothelial carcinogenesis... - ITIH5, a novel member of the inter-alpha-trypsin inhibitor heavy chain family is downregulated in breast cancerMarina Himmelfarb
metaGen Pharmaceuticals GmbH, Oudenarder Str 16, 13347 Berlin, Germany
Cancer Lett 204:69-77. 2004..ITIH5 mRNA was neither detectable in cancerous nor benign breast cell lines. We propose that loss of ITIH5 expression may be involved in breast cancer development... - A complex phenotype with cystic renal diseaseD Muller
Department of Pediatric Nephrology, Charite Campus Virchow, Berlin, Germany
Kidney Int 70:1656-60. 2006 - Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalitiesClaudia Weiss
Department of Neuropediatrics, Charite University Medical Center, Augustenburger Platz 1, D 13353 Berlin, Germany
Muscle Nerve 35:396-401. 2007..In conclusion, we present a case of DMD that conflicts with current understanding of genotype-phenotype relations and discuss putative pathogenetic mechanisms for this uncommon phenotype... - Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndromeEva Klopocki
Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, Berlin, Germany
Am J Hum Genet 80:232-40. 2007..We hypothesize that TAR syndrome is associated with a deletion on chromosome 1q21.1 but that the phenotype develops only in the presence of an additional as-yet-unknown modifier (mTAR)... - Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literatureChayim Schell-Apacik
Institute of Social Pediatrics and Adolescent Medicine, University of Munich, Munich, Germany
Eur J Pediatr 167:1057-62. 2008.... - A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndromeE Klopocki
Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, Berlin, Germany
J Med Genet 45:370-5. 2008..Even though this association is well established, its molecular mechanism remains unclear... - [Epigenetic inactivation of the WNT antagonist SFRP1 in breast cancer]E Dahl
Institut fur Pathologie, Universitätsklinikum der RWTH Aachen
Verh Dtsch Ges Pathol 89:169-77. 2005..Human primary breast cancer was methylated in nearly 75% of cases. Our results indicate that epigenetic inactivation by methylation is the predominant mechanism of SFRP1 gene silencing in breast cancer... - Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1Sabine Uhrig
Am J Hum Genet 81:866-8. 2007 - Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literatureChayim Can Schell-Apacik
Institute of Social Pediatric and Adolescent Medicine of the University of Munich, Munich, Germany
Eur J Pediatr 167:123-6. 2008..Children with this syndrome should undergo a certain social pediatric protocol including EEG diagnostics, ophthalmological investingation, psychological testing, management of behavioral problems and genetic counseling... - Frequent loss of SFRP1 expression in multiple human solid tumours: association with aberrant promoter methylation in renal cell carcinomaE Dahl
Molecular Oncology Group, Institute of Pathology, University Hospital of the RWTH Aachen, Aachen, Germany
Oncogene 26:5680-91. 2007..In RCC, promoter hypermethylation seems to be the predominant mechanism of SFRP1 gene silencing and may contribute to initiation and progression of this disease... - Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosisMarkus Stumm
Zentrum für Pränataldiagnostik Kudamm 199, Berlin, Germany
Prenat Diagn 27:475-8. 2007..Conventional cytogenetic and molecular cytogenetic techniques were applied to determine the correct karyotype of the affected fetus... - Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruptionStefan Meyer
Academic Unit of Paediatric Oncology, Christie Hospital Trust, University of anchester, Manchester, UK
Genes Chromosomes Cancer 46:359-72. 2007..In addition, cryptic imbalances as detected here might account for overexpression of EVI1 in AML without overt 3q26 rearrangements... - Negative enrichment by immunomagnetic nanobeads for unbiased characterization of circulating tumor cells from peripheral blood of cancer patientsZhian Liu
Department of Hematology and Medical Oncology, Charite, Berlin, Germany
J Transl Med 9:70. 2011..We optimized a method for enrichment, subsequent detection and characterization of CTCs based on depletion of the leukocyte fraction... - Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasiaClaus Eric Ott
Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
J Med Genet 49:437-41. 2012..Although CCD is usually caused by mutations leading to haploinsufficiency of RUNX2, the underlying genetic cause remains unresolved in about 25% of cases... - Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashionEva Klopocki
Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
J Med Genet 49:119-25. 2012..Although six different loci/mutations (SHFM1-6) have been associated with SHFM, the underlying cause in a large number of cases is still unresolved... - Copy-number variations, noncoding sequences, and human phenotypesEva Klopocki
Institute for Medical Genetics and Human Genetics, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
Annu Rev Genomics Hum Genet 12:53-72. 2011..Here we review CNVs that involve regulatory nontranscribed regions of the genome, describe the associated human phenotypes, and discuss possible disease mechanisms...