D Horn

Summary

Affiliation: Humboldt University
Country: Germany

Publications

  1. pmc Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
  2. pmc Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family
    Sevjidmaa Baasanjav
    Institute of Medical Genetics, Charite Berlin, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
    BMC Med Genet 11:110. 2010
  3. ncbi request reprint Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3
    Denise Horn
    Institute of Human Genetics, Charite, Humboldt University Berlin, Augustenburger Platz 1, D 13353 Berlin, Germany
    Am J Med Genet A 128:85-92. 2004
  4. doi request reprint Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome
    Denise Horn
    Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Eur J Med Genet 53:85-8. 2010
  5. doi request reprint Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene
    Denise Horn
    Institut für Medizinische Genetik und Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Med Genet A 155:721-4. 2011
  6. ncbi request reprint Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region
    Denise Horn
    Institute of Human Genetics, Charite, Humboldt University, Augustenburger Platz 1, D 13353 Berlin, Germany
    Am J Med Genet A 117:236-44. 2003
  7. doi request reprint Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum
    Denise Horn
    Institut für Medizinische Genetik und Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Med Genet A 155:1917-22. 2011
  8. ncbi request reprint Pigmentary mosaicism of the hyperpigmented type in two half-brothers
    Denise Horn
    Institute of Human Genetics, Charite, Humboldt University, Berlin, Germany
    Am J Med Genet 112:65-9. 2002
  9. ncbi request reprint Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis
    D Horn
    Institute of Human Genetics, Charite, Humboldt University, Berlin, Germany
    Prenat Diagn 21:881-4. 2001
  10. ncbi request reprint Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity
    D Horn
    Institute of Human Genetics, Charite, Humboldt University, Berlin, Germany
    Am J Med Genet 92:285-92. 2000

Collaborators

Detail Information

Publications33

  1. pmc Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
    ..Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability...
  2. pmc Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family
    Sevjidmaa Baasanjav
    Institute of Medical Genetics, Charite Berlin, Humboldt University, Augustenburger Platz 1, 13353 Berlin, Germany
    BMC Med Genet 11:110. 2010
    ..The patients affected with both LEMD3 and EXT1 gene mutations displayed typical features of the osteopoikilosis. There were no additional skeletal manifestations detected however, various non-skeletal pathologies coincided in this group...
  3. ncbi request reprint Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3
    Denise Horn
    Institute of Human Genetics, Charite, Humboldt University Berlin, Augustenburger Platz 1, D 13353 Berlin, Germany
    Am J Med Genet A 128:85-92. 2004
    ..Our results stress the importance of 7q36 deletion studies by FISH in patients with microsigns of the HPE spectrum...
  4. doi request reprint Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome
    Denise Horn
    Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Eur J Med Genet 53:85-8. 2010
    ..We suggest a specific clinical entity within the spectrum of patients with mental retardation and hyperphosphatasia, which is in particular characterized by a recognizable facial gestalt and brachytelephalangy...
  5. doi request reprint Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene
    Denise Horn
    Institut für Medizinische Genetik und Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Med Genet A 155:721-4. 2011
    ..This phenotype which is different from that of classical Marfan syndrome could be caused by a truncated FBN1 protein which could escape nonsense-mediated RNA decay...
  6. ncbi request reprint Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region
    Denise Horn
    Institute of Human Genetics, Charite, Humboldt University, Augustenburger Platz 1, D 13353 Berlin, Germany
    Am J Med Genet A 117:236-44. 2003
    ..Our results reinforce the role of cryptic subtelomeric rearrangements in patients with mental retardation associated with physical anomalies and stress the importance of FISH technology to supplement routine cytogenetics...
  7. doi request reprint Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum
    Denise Horn
    Institut für Medizinische Genetik und Humangenetik, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Med Genet A 155:1917-22. 2011
    ..Moreover, seizures and muscular hypotonia are frequently associated with PIGV mutations...
  8. ncbi request reprint Pigmentary mosaicism of the hyperpigmented type in two half-brothers
    Denise Horn
    Institute of Human Genetics, Charite, Humboldt University, Berlin, Germany
    Am J Med Genet 112:65-9. 2002
    ..Paradominant transmission seems unlikely because this would likewise imply that the chromosomal mosaicism is an incidental finding...
  9. ncbi request reprint Prenatal diagnosis in Coffin-Lowry syndrome demonstrates germinal mosaicism confirmed by mutation analysis
    D Horn
    Institute of Human Genetics, Charite, Humboldt University, Berlin, Germany
    Prenat Diagn 21:881-4. 2001
    ..In her third pregnancy prenatal diagnosis by mutation analysis has detected gonadal mosaicism. As this is the second report of germinal mosaicism in Coffin-Lowry syndrome, the finding has important implication for genetic counselling...
  10. ncbi request reprint Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity
    D Horn
    Institute of Human Genetics, Charite, Humboldt University, Berlin, Germany
    Am J Med Genet 92:285-92. 2000
    ..1997: Euro J Hum Genet 5:206-213]. This fact encourages the hypothesis that the described kindred segregates for a variant of Cohen syndrome and suggests a redefinition of its phenotype...
  11. ncbi request reprint Ellis-van Creveld syndrome: examination at 15 weeks' gestation
    M Guschmann
    Department of Paidopathology and Placentology, Charite Hospital, Medical Faculty of Humboldt University, Berlin, Germany
    Prenat Diagn 19:879-83. 1999
    ..In addition to EVC, the fetus had a 47,XXY chromosome constitution...
  12. ncbi request reprint Mesomelic campomelia, polydactyly and Dandy-Walker cyst in siblings
    M Guschmann
    Abteilung für Paidopathologie und Placentologie, Institute für Pathologie, Charite, Campus Virchow Klinikum, Medizinische Fakultat der Humboldt Universitat zu Berlin, Berlin, Germany
    Prenat Diagn 21:378-82. 2001
    ..In addition, the fourth ventricle was dilated in the first sibling and the second sibling had an inverse intestinal malrotation. A literature search failed to reveal similar observations...
  13. doi request reprint First-trimester prenatal diagnosis of Okihiro syndrome
    R Becker
    Center for Prenatal Diagnosis, Free University of Berlin, Berlin, Germany
    Fetal Diagn Ther 27:222-6. 2010
    ..The diagnosis was confirmed by autoptic, radiologic and molecular genetic analysis. To our knowledge, this is the first case of prenatal diagnosis of OS...
  14. ncbi request reprint Phylloid pigmentary pattern with mosaic trisomy 13
    D Horn
    Institute of Human Genetics, Humboldt University, Berlin, Germany
    Pediatr Dermatol 14:278-80. 1997
    ..This type has been described in four patients so far, along with additional anomalies and a chromosomal mosaisicm in two patients...
  15. doi request reprint BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families
    C Fischer
    Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, Heidelberg, Germany
    Clin Genet 82:478-83. 2012
    ..In families with BRCA1/2-negative index patient we recommend a second screening if another patient with a high probability of carrying a BRCA1/2 mutation is available...
  16. ncbi request reprint Autosomal recessive type of Adams-Oliver syndrome: prenatal diagnosis
    R Becker
    Department of Obstetrics and Gynaecology, Klinikum Benjamin Franklin, Free University of Berlin, Berlin, Germany
    Ultrasound Obstet Gynecol 20:506-10. 2002
    ..Although there have been numerous cases of the postnatal diagnosis of Adams-Oliver syndrome following termination of pregnancy, this is the first description of the prenatal diagnosis of this disorder...
  17. ncbi request reprint Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease
    Denise Horn
    Am J Med Genet A 124:102-4. 2004
  18. ncbi request reprint Prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newborn
    Rolf Dieter Wegner
    Institute of Human Genetics, Humboldt University Berlin, Campus Virchow, Kurfürstendamm 199, D 10719 Berlin, Germany
    Am J Med Genet A 124:85-8. 2004
    ..At term a boy with normal growth parameter was born. In addition to the expected heart defect, malformations of hands and feet were present...
  19. ncbi request reprint Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
    Seval Turkmen
    Institut fur Medizinische Genetik, Humboldt Universitat, Charite, Berlin, Germany
    Eur J Hum Genet 11:858-65. 2003
    ..The results indicate that the great majority of patients with Sotos syndrome are caused by mutations in NSD1. Deletions covering the NSD1 locus were not found in the patients analyzed here...
  20. ncbi request reprint Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:1069-73. 2006
    ..We propose that X-inactivation is an important epigenetic modifier of the phenotype in females with the FLNA-related skeletal dysplasias...
  21. ncbi request reprint 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
    ....
  22. ncbi request reprint 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
    ....
  23. pmc Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome
    Hans Christian Hennies
    Gene Mapping Centre and Department of Molecular Genetics, Max Delbruck Centre for Molecular Medicine, Berlin, Germany
    Am J Hum Genet 75:138-45. 2004
    ..The identification of novel mutations in COH1 in an ethnically diverse group of patients demonstrates extensive allelic heterogeneity and explains the intriguing clinical variability in Cohen syndrome...
  24. ncbi request reprint Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome
    Joachim Burger
    Institute of Human Genetics, Charite, Humboldt Universitat, Berlin, Germany
    Am J Med Genet 111:233-7. 2002
    ..Finally, this case highlights that methylation tests can fail to detect some familial AS cases with a recurrence risk of 50%...
  25. ncbi request reprint Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
    Stephen P Robertson
    Weatherall Institute of Molecular Medicine, Room 304, The John Radcliffe, Headley Way, Oxford OX3 9DS, UK
    Nat Genet 33:487-91. 2003
    ....
  26. ncbi request reprint Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome
    Maren Runte
    Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, 45122, Essen, Germany
    Hum Genet 116:228-30. 2005
    ..However, we cannot exclude the possibility that the loss of HBII-52 has a phenotypic effect when accompanied by the loss of function of other genes in 15q11-q13...
  27. pmc Walking the interactome for prioritization of candidate disease genes
    Sebastian Kohler
    Institute for Medical Genetics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Am J Hum Genet 82:949-58. 2008
    ....
  28. 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...
  29. 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)...
  30. pmc Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Germany
    J Med Genet 44:131-5. 2007
    ..Germline mutations in KRAS have recently been identified in a small number of patients with Noonan syndrome and CFC...
  31. ncbi request reprint Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome
    Fatih Tufan
    Department of Internal Medicine, Istanbul University, Istanbul Medical Faculty, Capa, Turkey
    Am J Med Genet A 136:185-9. 2005
    ..Analysis of the ROR2 gene revealed a homozygous c.1937_1943delACAAGCT mutation in Patient 1, and compound heterozygosity for c.355C > T (p.R119X). and c.550C > T (p.R184C) in Patient 2...
  32. pmc Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations
    Katrina Tatton-Brown
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Am J Hum Genet 77:193-204. 2005
    ..005) to carry missense mutations, suggesting that the underlying NSD1 mutational mechanism in Sotos syndrome may influence reproductive fitness...
  33. ncbi request reprint Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
    Irene A Aligianis
    Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, B15 2TT, UK
    Nat Genet 37:221-3. 2005
    ..We hypothesize that the underlying pathogenesis of Micro syndrome is a failure of exocytic release of ocular and neurodevelopmental trophic factors...