Eva Klopocki

Summary

Affiliation: Charite Universit?tsmedizin Berlin
Location: Berlin, Germany

Publications

  1. pmc A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
    Eva Klopocki
    Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany
    Eur J Pediatr 167:903-8. 2008
  2. doi The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
    Fanny Kortüm
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Campus Forschung, Martinistrase 52, 20246 Hamburg, Germany
    J Med Genet 48:396-406. 2011
  3. doi Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young
    Klemens Raile
    Department of Pediatric Endocrinology and Diabetes, Charite Campus Virchow, 13353 Berlin, Germany
    J Clin Endocrinol Metab 94:2658-64. 2009
  4. pmc Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2
    Katarina Dathe
    Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, 13353 Berlin, Germany
    Am J Hum Genet 84:483-92. 2009
  5. doi Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
    Juliane Najm
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, 20246 Hamburg, Germany
    Nat Genet 40:1065-7. 2008
  6. ncbi HNF1B abnormality (mature-onset diabetes of the young 5) in children and adolescents: high prevalence in autoantibody-negative type 1 diabetes with kidney defects
    Klemens Raile
    Diabetes Care 31:e83. 2008
  7. pmc Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients
    Chayim 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
  8. doi A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures
    Andreas Busche
    Charite Universitatsmedizin Berlin, Institute of Medical Genetics, Berlin, Germany
    Eur J Med Genet 51:615-21. 2008
  9. doi De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation
    Véronique Dutrannoy
    Institut fur Humangenetik, Charite Universitatsmedizin, Berlin, Germany
    Eur J Med Genet 52:450-3. 2009
  10. ncbi Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia
    Ingo Kurth
    Nat Genet 41:862-3. 2009

Detail Information

Publications46

  1. pmc A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
    Eva 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...
  2. doi The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
    Fanny 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...
  3. doi Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young
    Klemens 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...
  4. pmc Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2
    Katarina 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...
  5. doi Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
    Juliane 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...
  6. ncbi HNF1B abnormality (mature-onset diabetes of the young 5) in children and adolescents: high prevalence in autoantibody-negative type 1 diabetes with kidney defects
    Klemens Raile
    Diabetes Care 31:e83. 2008
  7. pmc Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients
    Chayim 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...
  8. doi A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures
    Andreas 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...
  9. doi De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation
    Véronique 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...
  10. ncbi Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia
    Ingo Kurth
    Nat Genet 41:862-3. 2009
  11. doi Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications
    Oliver 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...
  12. doi A BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in the lymphoma cell line BLUE-1
    Seval 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...
  13. doi Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature
    Andreas 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...
  14. pmc Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis
    Eva 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...
  15. pmc Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
    Denise 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...
  16. doi Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia
    Claus 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...
  17. pmc Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q
    Piranit 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...
  18. pmc Deletion and point mutations of PTHLH cause brachydactyly type E
    Eva 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...
  19. doi Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing
    Marcel 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...
  20. doi Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4
    E 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...
  21. doi Catel-Manzke syndrome: two new patients and a critical review of the literature
    Hermann 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...
  22. ncbi Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene
    Eva 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...
  23. ncbi A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2
    Eva 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...
  24. ncbi Aberrant methylation of the Wnt antagonist SFRP1 in breast cancer is associated with unfavourable prognosis
    J 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...
  25. ncbi Systematic identification and molecular characterization of genes differentially expressed in breast and ovarian cancer
    Edgar 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...
  26. ncbi Distinct secreted Frizzled receptor protein 1 staining pattern in patients with hyperplastic polyposis coli syndrome
    Barbara 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...
  27. ncbi Loss of SFRP1 is associated with breast cancer progression and poor prognosis in early stage tumors
    Eva Klopocki
    Freie Universitat Berlin, 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...
  28. ncbi Deletions of chromosome 8p and loss of sFRP1 expression are progression markers of papillary bladder cancer
    Robert 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...
  29. ncbi ITIH5, a novel member of the inter-alpha-trypsin inhibitor heavy chain family is downregulated in breast cancer
    Marina 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...
  30. ncbi A complex phenotype with cystic renal disease
    D Muller
    Department of Pediatric Nephrology, Charite Campus Virchow, Berlin, Germany
    Kidney Int 70:1656-60. 2006
  31. ncbi Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities
    Claudia 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...
  32. pmc Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
    Eva 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)...
  33. doi Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature
    Chayim Schell-Apacik
    Institute of Social Pediatrics and Adolescent Medicine, University of Munich, Munich, Germany
    Eur J Pediatr 167:1057-62. 2008
    ....
  34. doi A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
    E 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...
  35. ncbi [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...
  36. pmc Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1
    Sabine Uhrig
    Am J Hum Genet 81:866-8. 2007
  37. ncbi Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature
    Chayim 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...
  38. ncbi Frequent loss of SFRP1 expression in multiple human solid tumours: association with aberrant promoter methylation in renal cell carcinoma
    E 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...
  39. ncbi Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosis
    Markus 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...
  40. ncbi Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption
    Stefan 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...
  41. pmc Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants
    Bert Nagel
    Krankenanstalt Rudolfstiftung, Juchgasse 25, Vienna, Austria
    BMC Med Genet 13:60. 2012
    ..LVHT has been reported in association with various cardiac and extracardiac abnormalities like epilepsy and facial dysmorphism...
  42. pmc Negative enrichment by immunomagnetic nanobeads for unbiased characterization of circulating tumor cells from peripheral blood of cancer patients
    Zhian 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...
  43. doi Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia
    Claus 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...
  44. doi Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
    Eva 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...
  45. doi Copy-number variations, noncoding sequences, and human phenotypes
    Eva 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...