Stephen P Robertson

Summary

Affiliation: University of Otago
Country: New Zealand

Publications

  1. ncbi request reprint Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
    Stephen P Robertson
    Weatherall Institute of Molecular Medicine, Room 304, The John Radcliffe, Headley Way, Oxford OX3 9DS, UK
    Nat Genet 33:487-91. 2003
  2. ncbi request reprint Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand
    Eur J Hum Genet 15:3-9. 2007
  3. ncbi request reprint Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand
    Eur J Hum Genet 14:549-54. 2006
  4. ncbi request reprint Filamin A: phenotypic diversity
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, PO Box 913, Dunedin, New Zealand
    Curr Opin Genet Dev 15:301-7. 2005
  5. ncbi request reprint Molecular pathology of filamin A: diverse phenotypes, many functions
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand
    Clin Dysmorphol 13:123-31. 2004
  6. ncbi request reprint Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Dunedin, New Zealand
    Am J Med Genet A 140:1726-36. 2006
  7. ncbi request reprint The male phenotype in osteopathia striata congenita with cranial sclerosis
    Sarah K Holman
    Department of Paediatrics, Dunedin School of Medicine, Otago University, New Zealand
    Am J Med Genet A 155:2397-408. 2011
  8. doi request reprint Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
    Philip B Daniel
    Department of Women s and Children s Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand
    Hum Mutat 33:665-73. 2012
  9. doi request reprint WTX mutations can occur both early and late in the pathogenesis of Wilms tumour
    Ryuji Fukuzawa
    Department of Women s and Children s Health, Dunedin School of Medicine, University of Otago, PO Box 913 Dunedin, New Zealand
    J Med Genet 47:791-4. 2010
  10. doi request reprint Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype
    Heather R Tiffin
    Department of Women s and Children s Health, Dunedin School of Medicine, Dunedin, New Zealand
    Neurogenetics 14:113-21. 2013

Detail Information

Publications29

  1. ncbi request reprint Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
    Stephen P Robertson
    Weatherall Institute of Molecular Medicine, Room 304, The John Radcliffe, Headley Way, Oxford OX3 9DS, UK
    Nat Genet 33:487-91. 2003
    ....
  2. ncbi request reprint Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand
    Eur J Hum Genet 15:3-9. 2007
    ..Mutations in this gene are clustered, exhibit a strong genotype-phenotype correlation and are presumed to exert their effect by a gain-of-function mechanism...
  3. ncbi request reprint Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand
    Eur J Hum Genet 14:549-54. 2006
    ..The description of somatic mutations and germline mosaicism in FLNA has implications for clinical and molecular diagnosis, phenotypic expression and genetic counseling of families with these disorders...
  4. ncbi request reprint Filamin A: phenotypic diversity
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, PO Box 913, Dunedin, New Zealand
    Curr Opin Genet Dev 15:301-7. 2005
    ....
  5. ncbi request reprint Molecular pathology of filamin A: diverse phenotypes, many functions
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand
    Clin Dysmorphol 13:123-31. 2004
    ..The molecular pathology of this gene suggests remarkable functional pleiotropy, indicative of diverse roles in embryonic, fetal and postnatal development...
  6. ncbi request reprint Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Dunedin, New Zealand
    Am J Med Genet A 140:1726-36. 2006
    ..This observation suggests that locus heterogeneity may exist for this disorder...
  7. ncbi request reprint The male phenotype in osteopathia striata congenita with cranial sclerosis
    Sarah K Holman
    Department of Paediatrics, Dunedin School of Medicine, Otago University, New Zealand
    Am J Med Genet A 155:2397-408. 2011
    ..The observation of striations in males may be indicative of a WTX mutation in a mosaic state supporting the contention that this sign in females is indicative of the differential lyonization of cells in the osteoblastic lineage...
  8. doi request reprint Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
    Philip B Daniel
    Department of Women s and Children s Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand
    Hum Mutat 33:665-73. 2012
    ....
  9. doi request reprint WTX mutations can occur both early and late in the pathogenesis of Wilms tumour
    Ryuji Fukuzawa
    Department of Women s and Children s Health, Dunedin School of Medicine, University of Otago, PO Box 913 Dunedin, New Zealand
    J Med Genet 47:791-4. 2010
    ..One explanation may be that a somatic mutation in WTX may need to occur late in tumour development to contribute to tumourigenesis...
  10. doi request reprint Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype
    Heather R Tiffin
    Department of Women s and Children s Health, Dunedin School of Medicine, Dunedin, New Zealand
    Neurogenetics 14:113-21. 2013
    ..This indel mutation in FHL1 broadens the spectrum of FHL1-related disorders and implicates it in the pathogenesis of NS spectrum disorders...
  11. doi request reprint A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome
    Louise S Bicknell
    Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand
    Eur J Hum Genet 16:1176-86. 2008
    ..These data suggest that P5CS may possess additional uncharacterised functions that affect connective tissue and central nervous system function...
  12. pmc Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome
    Stephen R F Twigg
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 101:8652-7. 2004
    ..This is the only known mutation in the ephrin/Eph receptor signaling system in humans and provides clues to the biogenesis of craniosynostosis...
  13. doi request reprint A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia
    Margriet van Kogelenberg
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand
    Am J Med Genet A 155:3144-7. 2011
    ..The deletion was inherited from the phenotypically normal mother who also exhibited markedly skewed X-inactivation. These findings implicate hemizygosity for one or all three of these genes as the cause of this phenotype...
  14. pmc A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
    Louise S Bicknell
    Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand
    J Med Genet 44:89-98. 2007
    ..To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome together with their affected relatives were evaluated for mutations in FLNB and their phenotypes studied...
  15. ncbi request reprint Longitudinal studies of gene-environment interaction in common diseases--good value for money?
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
    Novartis Found Symp 293:128-37; discussion 138-42, 181-3. 2008
    ..We refute the contention that incorporating the measurement of genotype into longitudinal-epidemiological studies is wasteful or unlikely to yield significant benefits...
  16. doi request reprint Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
    Zandra A Jenkins
    Departments of Paediatrics, Dunedin School of Medicine, Otago University, Dunedin 9054, New Zealand
    Nat Genet 41:95-100. 2009
    ..The observed phenotypic discordance dependent upon whether a mutation is germline or occurs somatically suggests the existence of temporal or spatial constraints on the action of WTX during tumorigenesis...
  17. pmc Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms
    Robert J Hancox
    Dunedin Multidisciplinary Health and Development Research Unit, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
    Hum Genet 126:559-65. 2009
    ..These data support the hypothesis that p53 protects from DNA damage in humans and provides a potential explanation for the variation in lung function impairment amongst smokers...
  18. pmc Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome
    Mary J Gray
    Department of Paediatrics, Dunedin School of Medicine, Dunedin, New Zealand
    Eur J Hum Genet 20:122-4. 2012
    ..The phenotypic evolution of SFPKS and this molecular analysis strongly suggest that SFPKS is part of the phenotypic spectrum of HCS and should no longer be classified as a distinct disease entity...
  19. doi request reprint TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating
    Sarah Cardoso
    Department of Women s and Children s Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand
    J Recept Signal Transduct Res 32:150-5. 2012
    ..In co-transfection experiments with equal amounts wild-type receptor, the LDS mutations were found to confer a modest dominant negative effect. These results are discussed in relation to LDS and the related Marfan syndrome...
  20. ncbi request reprint Maternal psychological reaction to newborn genetic screening for type 1 diabetes
    Nicola J Kerruish
    Department of Women s and Children s Health, Otago Medical School, University of Otago, PO Box 913, Dunedin, New Zealand
    Pediatrics 120:e324-35. 2007
    ..The purpose of this work was to describe levels of maternal anxiety, depressive symptoms, and perceptions of infant vulnerability associated with newborn genetic screening for susceptibility to type 1 diabetes...
  21. ncbi request reprint Mutations in two regions of FLNB result in atelosteogenesis I and III
    Claire Farrington-Rock
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Hum Mutat 27:705-10. 2006
    ..These results show that clustering of mutations in two regions of FLNB produce AOI/AOIII, and highlight the important role of this cytoskeletal protein in normal skeletogenesis...
  22. ncbi request reprint Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings
    Adrian Mariño-Enríquez
    Department of Pathology, La Paz University Hospital, Madrid, Spain
    Am J Med Genet A 143:1120-5. 2007
    ....
  23. ncbi request reprint A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders
    Marina Colombani
    Département de génétique, Hôpital d Enfants, Dijon, France
    Prenat Diagn 26:1151-5. 2006
    ..We report a 19-week gestation female foetus with a new syndrome characterised by increased nuchal translucency and severe micromelia with campomelia evident from the early second trimester...
  24. ncbi request reprint Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients
    Lilian M J Albano
    Genetics Unit, Instituto da Cariança of University, Sao Paulo, Brazil
    Clin Dysmorphol 16:27-33. 2007
    ....
  25. doi request reprint Characterizing the oculoauriculofrontonasal syndrome
    Michael T Gabbett
    Genetic Health Queensland, Royal Children s Hospital, University of Queensland, Brisbane, Queensland, Australia
    Clin Dysmorphol 17:79-85. 2008
    ....
  26. doi request reprint Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype
    Mirjam H H van Roij
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Am J Med Genet A 146:2376-84. 2008
    ....
  27. ncbi request reprint Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia
    Valentine J Hyland
    Department of Surgery, University of Queensland, Royal Brisbane Hospital, Herston Hospitals Campus, Brisbane, Australia
    Am J Med Genet A 120:157-68. 2003
    ..These findings confirm the proposita to be a somatic and germline mosaic for this particular missense mutation in FGFR3. Thus far, all reported FGFR3 R248C mutations have resulted in thanatophoric dysplasia type I (TDI)...
  28. ncbi request reprint Variable expression of campomelic dysplasia in a father and his 46, XY daughter
    Ravi Savarirayan
    Victorian Clinical Genetics Services, Royal Children s Hospital and University of Melbourne, Parkville, Victoria 3052, Australia
    Pediatr Pathol Mol Med 22:37-46. 2003
    ..Parents of individuals with CD should be examined for minimal manifestations of the disorder, which may represent phenotypic variability in the syndrome or somatic mosaicism...
  29. ncbi request reprint Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
    Deborah Krakow
    Department of Obstetrics and Gynecology, Cedars Sinai Research Institute, and David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Nat Genet 36:405-10. 2004
    ..These data indicate an unexpected role in vertebral segmentation, joint formation and endochondral ossification for this ubiquitously expressed cytoskeletal protein...