Andreas Zankl

Summary

Affiliation: Centre Hospitalier Universitaire Vaudois
Country: Switzerland

Publications

  1. ncbi Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1
    Andreas Zankl
    Department of Pediatrics, Division of Molecular Pediatrics, University of Lausanne, Lausanne, Switzerland
    Am J Med Genet A 129:144-8. 2004
  2. ncbi Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies
    Andreas Zankl
    Division of Molecular Pediatrics, CHUV, Lausanne, Switzerland
    Am J Med Genet A 133:61-7. 2005
  3. ncbi Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative bdls gene mutation?
    Andreas Zankl
    Institute of Medical Genetics, University of Zurich, Switzerland
    Am J Med Genet A 118:358-61. 2003
  4. ncbi ABase-a tool for the rapid assessment of anthropometric measurements on handheld computers
    Andreas Zankl
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Am J Med Genet A 121:146-50. 2003
  5. ncbi Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity?
    Andreas Zankl
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Am J Med Genet A 127:74-80. 2004
  6. ncbi Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome
    Andreas Zankl
    Division of Molecular Pediatrics, CHUV, University of Lausanne, Lausanne, Switzerland
    Am J Med Genet A 131:299-300. 2004
  7. ncbi Computer-aided anthropometry in the evaluation of dysmorphic children
    Andreas Zankl
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Pediatrics 114:e333-6. 2004
  8. ncbi Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
    Russia Ha-Vinh
    Division of Molecular Pediatrics, University of Lausanne, Lausanne, Switzerland
    Am J Med Genet A 131:115-20. 2004
  9. 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
  10. 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

Collaborators

Detail Information

Publications18

  1. ncbi Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1
    Andreas Zankl
    Department of Pediatrics, Division of Molecular Pediatrics, University of Lausanne, Lausanne, Switzerland
    Am J Med Genet A 129:144-8. 2004
    ..The diagnosis of SPD is suggested by the appearance of brachydactyly in a child who has clinical and radiographic features of a collagen II disorder...
  2. ncbi Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies
    Andreas Zankl
    Division of Molecular Pediatrics, CHUV, Lausanne, Switzerland
    Am J Med Genet A 133:61-7. 2005
    ....
  3. ncbi Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative bdls gene mutation?
    Andreas Zankl
    Institute of Medical Genetics, University of Zurich, Switzerland
    Am J Med Genet A 118:358-61. 2003
    ..We suggest that this patient's phenotype could be the result of mosaicism for a mutation or submicroscopic deletion affecting one or several genes responsible for BDLS...
  4. ncbi ABase-a tool for the rapid assessment of anthropometric measurements on handheld computers
    Andreas Zankl
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Am J Med Genet A 121:146-50. 2003
    ..The program runs on small handheld computers that can easily be carried around in a shirt pocket...
  5. ncbi Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity?
    Andreas Zankl
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Am J Med Genet A 127:74-80. 2004
    ..p63, a gene that is mutated in a number of syndromes associated with ectodermal dysplasia and limb malformations, was considered a possible candidate gene. However, no mutation in p63 was identified...
  6. ncbi Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome
    Andreas Zankl
    Division of Molecular Pediatrics, CHUV, University of Lausanne, Lausanne, Switzerland
    Am J Med Genet A 131:299-300. 2004
    ..To better delineate the clinical picture associated with these unusual mutations, we describe a severely affected patient with Pfeiffer syndrome and a missense mutation in the tyrosine kinase (TK) domain of FGFR2...
  7. ncbi Computer-aided anthropometry in the evaluation of dysmorphic children
    Andreas Zankl
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Pediatrics 114:e333-6. 2004
    ..This article describes a computer program that overcomes these problems and greatly facilitates the use of anthropometric measurements in pediatric medicine...
  8. ncbi Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
    Russia Ha-Vinh
    Division of Molecular Pediatrics, University of Lausanne, Lausanne, Switzerland
    Am J Med Genet A 131:115-20. 2004
    ..Collagen degradation products in urine and mutation analysis of PLOD2 may be used to diagnose BS and differentiate it from OI...
  9. 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...
  10. 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...
  11. ncbi Natural history of twin disruption sequence
    Andreas Zankl
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Am J Med Genet A 127:133-8. 2004
    ..Here, we present a natural history and neurological assessment of 18 patients with twin disruption sequence, whom we have followed over several months to years...
  12. ncbi Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome
    Andreas Zankl
    CHUV, Lausanne, Switzerland
    J Bone Miner Res 22:329-33. 2007
    ..MMP2 mutations were previously identified in patients with NAO and Winchester syndrome. Our findings suggest that Torg, NAO, and Winchester syndrome are allelic disorders...
  13. ncbi A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9
    Barbara Kloeckener-Gruissem
    Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Switzerland
    Am J Med Genet A 136:31-7. 2005
    ..It is, therefore, implied that a significant subset of ICF patients will have a yet unknown, alternative alteration, which may include the involvement of DNMT3B-interacting factors or aberrations of an independent pathway...
  14. ncbi Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years
    Andreas Zankl
    Institute of Medical Genetics, University of Zurich, Switzerland
    Am J Med Genet 111:388-91. 2002
    ..In this study, we present normal values for nose size and philtrum length based on measurements on 2,500 healthy individuals of central European origin, ranging in age from zero to 97 years...
  15. ncbi Cranio-cerebello-cardiac (3C) syndrome: follow-up study of the original patient
    Andreas Zankl
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Am J Med Genet A 118:55-9. 2003
    ..We also provide evidence that the originally reported immune deficiency in this patient is not a primary B-cell defect but a secondary loss of IgG via the gastrointestinal system...
  16. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007
    ..Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified...
  17. ncbi Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia
    Louise S Conwell
    Department of Endocrinology and Diabetes, Royal Children s Hospital, Brisbane, Australia
    J Pediatr Endocrinol Metab 21:209-11. 2008
  18. doi Specific ultrasonographic features of perinatal lethal hypophosphatasia
    Andreas Zankl
    Genetic Health Queensland, Royal Children s Hospital, University of Queensland, Brisbane, Australia
    Am J Med Genet A 146:1200-4. 2008
    ..Here we present a case of molecularly confirmed PL-HPH and illustrate specific ultrasonographic findings that help to distinguish PL-HPH from similar conditions...