Ekkehart Lausch

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. pmc 3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient
    Cristina Meazza
    Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Piazzale C, Golgi 2, Pavia 27100, Italy
    Ital J Pediatr 39:21. 2013
  2. 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
  3. doi request reprint 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
  4. pmc 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
  5. 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

Detail Information

Publications5

  1. pmc 3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient
    Cristina Meazza
    Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Piazzale C, Golgi 2, Pavia 27100, Italy
    Ital J Pediatr 39:21. 2013
    ..Notwithstanding the early start of therapy and good compliance, his growth rate was always very low, except for the first two years of treatment and he achieved a final height of 132 cm (-6.42 SDS)...
  2. 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
    ....
  3. doi request reprint 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...
  4. pmc 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...
  5. 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
    ....