Sheila Unger

Summary

Affiliation: Centre Hospitalier Universitaire Vaudois
Country: Switzerland

Publications

  1. doi request reprint Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
    Sheila Unger
    Service of Medical Genetics, University of Lausanne, Lausanne, Switzerland
    Am J Med Genet A 155:2860-4. 2011
  2. doi request reprint Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type
    Claudine Rieubland
    Division of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Eur J Med Genet 53:294-8. 2010
  3. pmc FAM111A mutations result in hypoparathyroidism and impaired skeletal development
    Sheila Unger
    Department of Pediatrics, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland Medical Genetics Service, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland
    Am J Hum Genet 92:990-5. 2013
  4. doi request reprint The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals
    Nuria Garcia Segarra
    Division of Molecular Pediatrics, Lausanne University Hospital, Lausanne, Switzerland
    Am J Med Genet C Semin Med Genet 160:217-29. 2012
  5. pmc Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
    Andreas Zankl
    Division of Molecular Paediatrics, Lausanne, Switzerland
    Eur J Hum Genet 15:150-4. 2007
  6. doi request reprint Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome
    Esra Dikoglu
    Division of Molecular Pediatrics, Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Med Genet A 161:3161-5. 2013
  7. ncbi request reprint Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder
    Raffaele Renella
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Med Genet A 140:541-50. 2006
  8. ncbi request reprint Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity
    Danielle Martinet
    Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Med Genet A 140:769-74. 2006
  9. pmc Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia
    Ekkehart Lausch
    Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, Freiburg, Germany
    Am J Hum Genet 85:168-78. 2009
  10. pmc Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia
    Ana Belinda Campos-Xavier
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Hum Genet 84:760-70. 2009

Collaborators

Detail Information

Publications16

  1. doi request reprint Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
    Sheila Unger
    Service of Medical Genetics, University of Lausanne, Lausanne, Switzerland
    Am J Med Genet A 155:2860-4. 2011
    ....
  2. doi request reprint Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type
    Claudine Rieubland
    Division of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Eur J Med Genet 53:294-8. 2010
    ..After termination of pregnancy, radiographs showed short ribs, short and bent long bones and anisospondyly of two vertebral bodies. The fetus was homozygous for a previously undescribed null mutation in HSPG2...
  3. pmc FAM111A mutations result in hypoparathyroidism and impaired skeletal development
    Sheila Unger
    Department of Pediatrics, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland Medical Genetics Service, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland
    Am J Hum Genet 92:990-5. 2013
    ..FAM111A appears to be crucial to a pathway that governs parathyroid hormone production, calcium homeostasis, and skeletal development and growth...
  4. doi request reprint The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals
    Nuria Garcia Segarra
    Division of Molecular Pediatrics, Lausanne University Hospital, Lausanne, Switzerland
    Am J Med Genet C Semin Med Genet 160:217-29. 2012
    ..Increasing awareness of PPRD appears to be essential to allow for a timely diagnosis...
  5. pmc Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
    Andreas Zankl
    Division of Molecular Paediatrics, Lausanne, Switzerland
    Eur J Hum Genet 15:150-4. 2007
    ..We conclude that expert clinical-radiological review can significantly enhance mutation detection rates and should be part of any diagnostic mutation screening protocol for skeletal dysplasias...
  6. doi request reprint Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome
    Esra Dikoglu
    Division of Molecular Pediatrics, Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Med Genet A 161:3161-5. 2013
    ..841C>T) in TBX15 predicted to cause a premature stop (p.Arg281*) with truncation of the protein. This observation confirms that Cousin syndrome is a consistent and clinically recognizable phenotype caused by loss of function of TBX15...
  7. ncbi request reprint Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder
    Raffaele Renella
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Med Genet A 140:541-50. 2006
    ..The notion of recessive inheritance hitherto assumed is challenged by the observation of two apparently dominant pedigrees...
  8. ncbi request reprint Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity
    Danielle Martinet
    Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Med Genet A 140:769-74. 2006
    ..However, there is no evidence to suggest that chromosome 17 is imprinted and UPD 20 was excluded thus making an imprinting error unlikely...
  9. pmc Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia
    Ekkehart Lausch
    Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, Freiburg, Germany
    Am J Hum Genet 85:168-78. 2009
    ....
  10. pmc Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia
    Ana Belinda Campos-Xavier
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    Am J Hum Genet 84:760-70. 2009
    ..Thus, GPC6 seems to have a previously unsuspected role in endochondral ossification and skeletal growth, and its functional abrogation results in a short-limb phenotype...
  11. pmc Evolutionary comparison provides evidence for pathogenicity of RMRP mutations
    Luisa Bonafe
    Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
    PLoS Genet 1:e47. 2005
    ..Thus, RMRP molecular testing may be indicated in individuals with isolated metaphyseal dysplasia, anemia, or immune dysregulation...
  12. pmc Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis
    Pia Hermanns
    Center for Pediatrics and Adolescent Medicine, University of Freiburg, 79106 Freiburg, Germany
    Am J Hum Genet 82:1368-74. 2008
    ..These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal dysplasia Omani type form a phenotypic spectrum...
  13. doi request reprint Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features
    Sheila Unger
    Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
    Am J Med Genet A 152:2543-9. 2010
    ....
  14. doi request reprint Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis
    Sheila Unger
    Department of Paediatrics and Institute of Human Genetics, University of Freiburg, Freiburg, Germany
    Best Pract Res Clin Rheumatol 22:19-32. 2008
    ..Mutations in at least six different genes can cause multiple epiphyseal dysplasia, and it can be either dominant or recessive. Molecular diagnosis is important for accurate prognosis and genetic counselling...
  15. doi request reprint Clinical and radiographic delineation of odontochondrodysplasia
    Sheila Unger
    Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
    Am J Med Genet A 146:770-8. 2008
    ....
  16. ncbi request reprint COL2A1-related skeletal dysplasias with predominant metaphyseal involvement
    Kerstin Walter
    Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
    Am J Med Genet A 143:161-7. 2007
    ..The observation of these individuals with metaphyseal dysplasia indicates that the phenotypic spectrum associated with mutations in type 2 collagen, the main cartilage protein, is even wider than hitherto assumed...