Research Topics
Genomes and GenesSpecies | Andreas ZanklSummaryAffiliation: Centre Hospitalier Universitaire Vaudois Country: Switzerland Publications
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Publications
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1Andreas 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...- 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 collagenopathiesAndreas Zankl
Division of Molecular Pediatrics, CHUV, Lausanne, Switzerland
Am J Med Genet A 133:61-7. 2005.... - 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... - ABase-a tool for the rapid assessment of anthropometric measurements on handheld computersAndreas 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... - 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... - Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndromeAndreas 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... - Computer-aided anthropometry in the evaluation of dysmorphic childrenAndreas 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... - Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2Russia 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... 
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasiaAndreas 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...
Evolutionary comparison provides evidence for pathogenicity of RMRP mutationsLuisa 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...- Natural history of twin disruption sequenceAndreas 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... - Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndromeAndreas 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... - A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9Barbara 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... - Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 yearsAndreas 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... - Cranio-cerebello-cardiac (3C) syndrome: follow-up study of the original patientAndreas 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... - Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian 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... - Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasiaLouise S Conwell
Department of Endocrinology and Diabetes, Royal Children's Hospital, Brisbane, Australia
J Pediatr Endocrinol Metab 21:209-11. 2008 
Specific ultrasonographic features of perinatal lethal hypophosphatasiaAndreas 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...