Dagmar Wieczorek

Summary

Affiliation: University of Duisburg-Essen
Country: Germany

Publications

  1. ncbi Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
    Ozge Altug Teber
    Institut fur Humangenetik, Universitatsklinikum, Essen, Germany
    Eur J Hum Genet 12:879-90. 2004
  2. doi Human facial dysostoses
    D Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
    Clin Genet 83:499-510. 2013
  3. doi Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr 55, 45122 Essen, Germany
    Am J Med Genet A 149:2849-54. 2009
  4. ncbi Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany, and Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Am J Med Genet A 143:1135-42. 2007
  5. doi Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Med Genet A 149:837-43. 2009
  6. doi A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr 55, Essen 45122, Germany
    Hum Mutat 31:81-9. 2010
  7. ncbi Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Hufelandstr 55, 45122, Essen, Germany
    Hum Genet 121:369-76. 2007
  8. ncbi Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation
    Christian H Brenk
    Institut fur Humangenetik, Universitat Bonn, Bonn, Germany
    Eur J Hum Genet 15:35-44. 2007
  9. ncbi Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces
    Tobias Vollmar
    Institut fur Humangenetik, Universitat Duisburg Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Eur J Med Genet 51:44-53. 2008
  10. pmc A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome
    Deniz Kanber
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 17:582-90. 2009

Detail Information

Publications46

  1. ncbi Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
    Ozge Altug Teber
    Institut fur Humangenetik, Universitatsklinikum, Essen, Germany
    Eur J Hum Genet 12:879-90. 2004
    ..The difficulties in genetic counselling, especially diagnosis of family members with a mild phenotype, are described...
  2. doi Human facial dysostoses
    D Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
    Clin Genet 83:499-510. 2013
    ..Several other AFDs with unknown molecular genetic bases, including lethal ones, have been described. This article reviews the MFDs and AFDs published to date...
  3. doi Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr 55, 45122 Essen, Germany
    Am J Med Genet A 149:2849-54. 2009
    ..In addition, they have both congenital camptodactyly of third (and fourth) fingers, which has not reported in RTS previously. We suggest that they represent a clinical subtype of RTS...
  4. ncbi Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany, and Department of Medical Genetics, Addenbrooke s Hospital, Cambridge, UK
    Am J Med Genet A 143:1135-42. 2007
    ..We discuss autosomal dominant inheritance with variable expressivity or mosaicism in the mother as the likely genetic mechanism in this new multiple congenital anomaly/mental retardation (MCA/MR) syndrome...
  5. doi Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Med Genet A 149:837-43. 2009
    ..Identification of additional patients will allow to further delineate the phenotype, to assign the inheritance pattern and to identify the molecular basis...
  6. doi A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr 55, Essen 45122, Germany
    Hum Mutat 31:81-9. 2010
    ..We suggest the term "ZRS-associated syndromes" and a clinical subclassification for the continuum of limb malformations caused by different molecular alterations of the ZRS...
  7. ncbi Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Hufelandstr 55, 45122, Essen, Germany
    Hum Genet 121:369-76. 2007
    ..0025). An excess of ART conceptions and monozygotic twinning in OAVS is compatible with the concept of overripeness ovopathy as proposed by Jongbloet (Maandschr Kindergeneeskd 36:352-367, 1968)...
  8. ncbi Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation
    Christian H Brenk
    Institut fur Humangenetik, Universitat Bonn, Bonn, Germany
    Eur J Hum Genet 15:35-44. 2007
    ..6 Mb of 18p; post-natal growth retardation and seizures to the distal 8 Mb and ptosis and short neck to the proximal half of 18p...
  9. ncbi Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces
    Tobias Vollmar
    Institut fur Humangenetik, Universitat Duisburg Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Eur J Med Genet 51:44-53. 2008
    ..Geometry performs excellently with 85% for combined poses. Combination of wavelets and geometry for both poses increases accuracy to 93%. In conclusion, a larger number of syndromes can be handled effectively by means of image analysis...
  10. pmc A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome
    Deniz Kanber
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 17:582-90. 2009
    ..2). This patient is obese and mentally retarded, but does not have PWS. We conclude that a deficiency of MKRN3, MAGEL2 and NDN is not sufficient to cause PWS...
  11. doi Automated syndrome detection in a set of clinical facial photographs
    Stefan Boehringer
    Institut fur Humangenetik, Universitaetsklinikum Essen, Germany
    Am J Med Genet A 155:2161-9. 2011
    ..In order to further this goal, a software package is made available that allows application of the procedures and contributions toward an improved data set...
  12. doi Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1
    Diana Mitter
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Med Genet A 152:1213-24. 2010
    ..This should help to link particular phenotypes to specific genes, and add to our understanding of the underlying developmental processes...
  13. ncbi Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum
    Sven Fischer
    Institut fur Humangenetik, Universitatsklinikum Essen, 45122 Essen, Germany
    Hum Mol Genet 15:581-7. 2006
    ..Prolonged cell culture or treatment with the histone deacetylase inhibitor Trichostatin A led to reactivation of the downregulated allele. We propose that epigenetic dysregulation of BAPX1 plays an important role in OAVS...
  14. ncbi A family with autosomal dominant oculo-auriculo-vertebral spectrum
    Christiane Tasse
    Institute of Human Genetics, University Clinic Essen, Essen, Germany
    Clin Dysmorphol 16:1-7. 2007
    ....
  15. ncbi Syndrome identification based on 2D analysis software
    Stefan Boehringer
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Hum Genet 14:1082-9. 2006
    ....
  16. doi Five patients with novel overlapping interstitial deletions in 8q22.2q22.3
    Alma Kuechler
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Med Genet A 155:1857-64. 2011
    ..3 may represent a clinically recognizable condition characterized particularly by the facial phenotype and developmental delay. More patients have to be evaluated to establish a phenotype-genotype correlation. © 2011 Wiley-Liss, Inc...
  17. pmc Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
    Claudia Voigt
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany
    Orphanet J Rare Dis 8:110. 2013
    ..Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as well. We set forth to find further conditions caused by mutations in the EFTUD2 gene (OMIM *603892)...
  18. ncbi Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification
    Christiane Tasse
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr 55, 45122 Essen, Germany
    Eur J Med Genet 48:397-411. 2005
    ....
  19. ncbi Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype?
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum, Essen, Germany
    Am J Med Genet A 120:429-33. 2003
    ..The combination of deletion 18p/duplication 20p was previously reported in three patients and seems to have a clinically recognizable face...
  20. ncbi Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR
    Diana Mitter
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Med Genet A 140:2039-49. 2006
    ....
  21. doi Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9
    Johanna Christina Czeschik
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Med Genet A 161:295-300. 2013
    ....
  22. doi Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature
    Jan Ulrich Schlump
    Klinik für Kinderheilkunde I, Universitatsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Eur J Pediatr 171:1611-8. 2012
    ....
  23. ncbi Two brothers with Burn-McKeown syndrome
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstr 55, 45122 Essen, Germany
    Clin Dysmorphol 12:171-4. 2003
    ....
  24. 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...
  25. doi 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome
    Johanna Christina Czeschik
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Essen, Germany Electronic address
    Eur J Med Genet 56:689-94. 2013
    ..Here, we present a boy with WWS who showed compound heterozygous changes in ISPD and discuss the clinical and radiological phenotype and the molecular genetic findings, including a novel pathogenic mutation in ISPD...
  26. doi Parental origin and functional relevance of a de novo UBE3A variant
    Bernhard Horsthemke
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45147 Essen, Germany
    Eur J Med Genet 54:19-24. 2011
    ..Our study may serve as a paradigm to determine the parental origin of a de novo mutation...
  27. ncbi Prenatally detected trisomy 4 and 6 mosaicism--cytogenetic results and clinical phenotype
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122 Essen, Germany
    Prenat Diagn 23:128-33. 2003
    ..When last seen at the age of 14 months, his development was nearly normal. Five patients with trisomy 4 mosaicism have been reported previously, but none with an additional trisomy 6 mosaicism...
  28. doi Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome
    Oliver Bartsch
    Institut fur Humangenetik, Universitätsmedizin der Johannes Gutenberg Universität Mainz, Langenbeckstrasse 1, D 55131 Mainz, Germany
    Am J Med Genet A 152:181-4. 2010
    ....
  29. pmc Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
    May Britt Harmsen
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Eur J Hum Genet 17:1207-15. 2009
    ..We conclude that the PORCN mutation detection rate is high in individuals with a clear-cut FDH phenotype and somatic mosaicism can be present in a significant proportion of patients with mild or classic FDH...
  30. ncbi Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation
    Dagmar Wieczorek
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Med Genet 108:209-13. 2002
    ..Having excluded major differential diagnoses, e.g. Fanconi anemia, RAPADILINO syndrome and VACTERL association, we hypothesize that this boy represents a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome...
  31. doi X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
    Johanna Christina Czeschik
    Institut fur Humangenetik, Universitatsklinikum Essen, Universitat Duisburg Essen, Hufelandstr, 55, 45122, Essen, Germany
    Orphanet J Rare Dis 8:146. 2013
    ..3.) The coverage of an array should be checked carefully prior to analysis since not all arrays have a sufficient resolution at specific loci, or alternative quantitative methods should be applied not to miss small deletions...
  32. ncbi Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature
    Christine Zühlke
    Institut fur Humangenetik, Universitatsklinikum Schleswig Holstein, Campus Lubeck, Germany
    Am J Med Genet A 143:2058-61. 2007
  33. doi Left-ventricular non-compaction (LVNC): a clinical feature more often observed in terminal deletion 1p36 than previously expected
    Kirsten Cremer
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Eur J Med Genet 51:685-8. 2008
    ..We hypothesize that a gene in 1p36 might be responsible for LVNC...
  34. doi Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile Paget's disease
    Corinna Grasemann
    Kinderklinik II, Department of Pediatric Endocrinology, Hufelandstrasse 55, 45122 Essen, Germany
    J Clin Endocrinol Metab 98:3121-6. 2013
    ..Increased bone turnover and lack of bone modeling lead to severe deformities, frequent fractures, short stature, and loss of hearing...
  35. ncbi Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
    Tetsuya Niihori
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Nat Genet 38:294-6. 2006
    ....
  36. ncbi Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome
    Dagmar Wieczorek
    Am J Med Genet A 140:2381-2; author reply 2383-4. 2006
  37. ncbi Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
    Yoko Narumi
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 143:799-807. 2007
    ....
  38. ncbi No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome
    Birte Tröger
    Am J Med Genet A 121:82-4. 2003
  39. ncbi Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005
    ..Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined...
  40. pmc Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
    Anne Michalk
    Institute for Medical Genetics, Charite University Medicine, Augustenburger Platz 1, D 13353 Berlin, Germany
    Am J Hum Genet 82:464-76. 2008
    ..We conclude that complete or severe functional disruption of fetal AChR causes lethal multiple pterygium syndrome whereas milder alterations result in fetal hypokinesia with inborn contractures or a myasthenic syndrome later in life...
  41. pmc Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
    Sabrina Giglio
    Biologia Generale e Genetica Medica, Universita di Pavia, Via Forlanini 14, 27100 Pavia, Italy
    Am J Hum Genet 71:276-85. 2002
    ..5% of them were scored as doubly heterozygous. These novel data emphasize the importance of segmental duplications and large-scale genomic polymorphisms in the evolution and pathology of the human genome...
  42. pmc SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
    Martin Zenker
    J Med Genet 44:651-6. 2007
    ..Mutations of SOS1, the gene encoding a guanine nucleotide exchange factor for Ras, have been the most recent discoveries in patients with NS, but this gene has not been studied in patients with CFCS...
  43. ncbi Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome
    Luciana Musante
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Eur J Hum Genet 11:201-6. 2003
    ..Five of the mutations were recurrent. Interestingly, no mutations in the PTPN11 gene were detected in five additional patients with cardio-facio-cutaneous (CFC) syndrome, which shows clinical similarities to NS...
  44. ncbi Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome
    Georg Hulskamp
    Klinik und Poliklinik für Kinderheilkunde Allgemeine Kinderheilkunde, Westfalische Wilhelms Universitat, Munster, Germany
    Clin Dysmorphol 12:153-60. 2003
    ..Further research is required to detect the underlying metabolic and molecular defects of this autosomal recessive syndrome...
  45. ncbi Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome
    Denise Horn
    Institut fur Medizinische Genetik, Charite, Campus Virchow Klinikum, Berlin, Germany
    Eur J Hum Genet 13:563-9. 2005
    ....
  46. ncbi Computer-based recognition of dysmorphic faces
    Hartmut S Loos
    Institut fur Neuroinformatik, Ruhr Universitat Bochum, Germany
    Eur J Hum Genet 11:555-60. 2003
    ..Our results prove that certain syndromes are associated with a specific facial pattern and that this pattern can be described in mathematical terms...