Andrea Superti Furga

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. pmc Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report
    Maria Francesca Bedeschi
    U O D Genetica Medica, Dipartimento Salute della donna del bambino del neonato, Fondazione IRCCS Policlinico, Mangiagalli e Regina Elena, Milan, Italy
    Orphanet J Rare Dis 6:7. 2011
  2. ncbi Nosology and classification of genetic skeletal disorders: 2006 revision
    Andrea Superti-Furga
    Center for Pediatrics and Adolescent Medicine, Department of Pediatrics, University of Freiburg, Freiburg, Germany
    Am J Med Genet A 143:1-18. 2007
  3. pmc Current themes in molecular pediatrics: molecular medicine and its applications
    Andrea Superti-Furga
    Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
    Ital J Pediatr 36:20. 2010
  4. doi Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease
    Sarah Catharina Grünert
    Centre for Pediatrics and Adolescent Medicine, University of Freiburg Hospital, Germany
    Brain Dev 33:432-6. 2011
  5. 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
  6. doi Drug dosing error with drops: severe clinical course of codeine intoxication in twins
    Maren Hermanns-Clausen
    Poison Information Center VIZ Freiburg, Center for Paediatrics and Adolescent Medicine, Freiburg, Germany
    Eur J Pediatr 168:819-24. 2009
  7. doi 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
  8. ncbi Early atherosclerosis in childhood type 1 diabetes: role of raised systolic blood pressure in the absence of dyslipidaemia
    Karl Otfried Schwab
    Department of Pediatrics and Adolescents Medicine, University Hospital, Mathilden Str 1, Freiburg, Germany
    Eur J Pediatr 166:541-8. 2007
  9. doi Risk factors of neonatal respiratory distress following vaginal delivery and caesarean section in the German population
    Andrea Heinzmann
    Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse 1, Freiburg, Germany
    Acta Paediatr 98:25-30. 2009
  10. ncbi Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency
    Ina Hainmann
    Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, 79106 Freiburg, Germany
    Hamostaseologie 29:184-6. 2009

Collaborators

Detail Information

Publications17

  1. pmc Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report
    Maria Francesca Bedeschi
    U O D Genetica Medica, Dipartimento Salute della donna del bambino del neonato, Fondazione IRCCS Policlinico, Mangiagalli e Regina Elena, Milan, Italy
    Orphanet J Rare Dis 6:7. 2011
    ....
  2. ncbi Nosology and classification of genetic skeletal disorders: 2006 revision
    Andrea Superti-Furga
    Center for Pediatrics and Adolescent Medicine, Department of Pediatrics, University of Freiburg, Freiburg, Germany
    Am J Med Genet A 143:1-18. 2007
    ....
  3. pmc Current themes in molecular pediatrics: molecular medicine and its applications
    Andrea Superti-Furga
    Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
    Ital J Pediatr 36:20. 2010
    ..Awareness of these potential conflicts may help in recognizing and dealing with these issues...
  4. doi Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease
    Sarah Catharina Grünert
    Centre for Pediatrics and Adolescent Medicine, University of Freiburg Hospital, Germany
    Brain Dev 33:432-6. 2011
    ..It remains unclear, if this association is incidental or if the underlying metabolic defect may have predisposed the brain tissue to hyperpyrexia-induced damage...
  5. 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
    ....
  6. doi Drug dosing error with drops: severe clinical course of codeine intoxication in twins
    Maren Hermanns-Clausen
    Poison Information Center VIZ Freiburg, Center for Paediatrics and Adolescent Medicine, Freiburg, Germany
    Eur J Pediatr 168:819-24. 2009
    ..The combination of repeated overdosing and extensive metabolism to morphine is likely to have caused apnoea in these twins. These cases illustrate the danger of codeine as an antitussive in young children...
  7. doi 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
    ....
  8. ncbi Early atherosclerosis in childhood type 1 diabetes: role of raised systolic blood pressure in the absence of dyslipidaemia
    Karl Otfried Schwab
    Department of Pediatrics and Adolescents Medicine, University Hospital, Mathilden Str 1, Freiburg, Germany
    Eur J Pediatr 166:541-8. 2007
    ..Their prognostic value remains to be determined...
  9. doi Risk factors of neonatal respiratory distress following vaginal delivery and caesarean section in the German population
    Andrea Heinzmann
    Centre for Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse 1, Freiburg, Germany
    Acta Paediatr 98:25-30. 2009
    ..We sought to specify neonatal outcomes following different modes of delivery, i.e. vaginal delivery, primary CS and secondary CS and to define risk factors for respiratory morbidity and hospitalization...
  10. ncbi Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency
    Ina Hainmann
    Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, 79106 Freiburg, Germany
    Hamostaseologie 29:184-6. 2009
    ..856G>A, Val286Met) in exon 7 of the F10 gene leading to a compound heterozygous state and causing severe factor X deficiency. Therapeutic options for patients with symptomatic factor X deficiency are demonstrated...
  11. pmc Polymorphisms and haplotypes of acid mammalian chitinase are associated with bronchial asthma
    Sibylle Bierbaum
    University Children s Hospital, University of Freiburg, Germany
    Am J Respir Crit Care Med 172:1505-9. 2005
    ..It acts downstream of interleukin-13; inhibition of AMCase leads to an abrogated T-helper cell 2 inflammation, less bronchial hyperreactivity, and fewer eosinophils...
  12. doi 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
    ....
  13. ncbi Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy
    Stephan Ehl
    Center for Pediatrics and Adolescent Medicine, University Clinic, Mathildenstrasse 1, 79106 Freiburg, Germany
    Rheumatol Int 24:53-6. 2004
    ..The patient carries a novel homozygous two-nucleotide deletion in exon 4 of the WISP3 gene. This genetic disorder is an important differential diagnosis of sicca polyarthritis...
  14. ncbi 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...
  15. 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...
  16. doi 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...
  17. 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...