Ekkehart Lausch

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. ncbi 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
  2. ncbi Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
    Ekkehart Lausch
    Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, University of Freiburg, Freiburg, Germany
    Nat Genet 43:132-7. 2011
  3. ncbi TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome
    Ekkehart Lausch
    Centre for Pediatrics and Adolescent Medicine, Department of Pediatrics, University of Freiburg, 79106 Freiburg, Germany
    Am J Hum Genet 83:649-55. 2008
  4. ncbi 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

Detail Information

Publications4

  1. ncbi 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
    ....
  2. ncbi Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
    Ekkehart Lausch
    Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, University of Freiburg, Freiburg, Germany
    Nat Genet 43:132-7. 2011
    ..These findings shed new light on the role of osteopontin and its regulation by TRAP in the pathogenesis of common autoimmune disorders...
  3. ncbi TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome
    Ekkehart Lausch
    Centre for Pediatrics and Adolescent Medicine, Department of Pediatrics, University of Freiburg, 79106 Freiburg, Germany
    Am J Hum Genet 83:649-55. 2008
    ..We conclude that Cousin syndrome is caused by TBX15 insufficiency and is thus the human counterpart of the droopy ear mouse...
  4. ncbi 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
    ....