Bronwyn Kerr

Summary

Affiliation: Manchester Royal Infirmary
Country: UK

Publications

  1. pmc Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
    B Kerr
    Regional Genetic Service, Central Manchester University Hospital NHS Trust, Manchester, UK
    J Med Genet 43:401-5. 2006
  2. doi request reprint The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders
    Bronwyn Kerr
    Regional Genetic Service and Medical Genetics Research Group, Central Manchester and Manchester Children s Hospitals University NHS Trust, Manchester, UK
    Am J Med Genet A 146:1218-20. 2008
  3. ncbi request reprint Cardiomyopathy with renal anomalies in two siblings: a new recessive syndrome?
    Kathryn M Leask
    Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Pendlebury, Manchester, UK
    Clin Dysmorphol 16:51-3. 2007
  4. pmc How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
    Siddharth Banka
    Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, Manchester, UK
    Eur J Hum Genet 20:381-8. 2012
  5. doi request reprint Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies
    Sofia Douzgou
    Clinical Fellow in Clinical Genetics, Central Manchester University Hospitals Foundation Trust, Manchester Academic Health Sciences Centre, Genetic Medicine, St Mary s Hospital, Oxford Rd, Manchester, UK
    Arch Dis Child 97:812-7. 2012
  6. doi request reprint Four limb syndactyly, constriction rings and skin tags; amniotic bands or disorganization-like syndrome
    Mary O'Driscoll
    Medical Genetics Research Group and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Clin Dysmorphol 17:255-8. 2008
  7. doi request reprint Molecular study of 33 families with Fraser syndrome new data and mutation review
    M M van Haelst
    Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
    Am J Med Genet A 146:2252-7. 2008
  8. ncbi request reprint Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B
    Meredith Wilson
    Department of Clinical Genetics, The Children s Hospital at Westmead, Sydney, Australia
    Am J Med Genet A 119:257-65. 2003
  9. doi request reprint No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome
    Benjamin Abo-Dalo
    Institute of Human Genetics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Clin Dysmorphol 17:181-5. 2008
  10. pmc The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type
    Gen Nishimura
    J Med Genet 44:e73. 2007

Collaborators

Detail Information

Publications18

  1. pmc Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
    B Kerr
    Regional Genetic Service, Central Manchester University Hospital NHS Trust, Manchester, UK
    J Med Genet 43:401-5. 2006
    ..Individuals with CS have an increased risk of malignancy, suggested to be about 17%. Recently, mutations in the HRAS gene on chromosome 11p13.3 have been found to cause CS...
  2. doi request reprint The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders
    Bronwyn Kerr
    Regional Genetic Service and Medical Genetics Research Group, Central Manchester and Manchester Children s Hospitals University NHS Trust, Manchester, UK
    Am J Med Genet A 146:1218-20. 2008
  3. ncbi request reprint Cardiomyopathy with renal anomalies in two siblings: a new recessive syndrome?
    Kathryn M Leask
    Academic Unit of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Pendlebury, Manchester, UK
    Clin Dysmorphol 16:51-3. 2007
    ..One of them also had dysgenesis of the corpus callosum. They were born to nonconsanguineous, phenotypically normal parents. This association appears to be a new entity and may suggest a new autosomal or X-linked recessive syndrome...
  4. pmc How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
    Siddharth Banka
    Department of Genetic Medicine, St Mary s Hospital, Manchester Academic Health Sciences Centre MAHSC, University of Manchester, Manchester, UK
    Eur J Hum Genet 20:381-8. 2012
    ..Moreover, phenotypic variability of KS suggests that MLL2 testing should be considered even in atypical patients...
  5. doi request reprint Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies
    Sofia Douzgou
    Clinical Fellow in Clinical Genetics, Central Manchester University Hospitals Foundation Trust, Manchester Academic Health Sciences Centre, Genetic Medicine, St Mary s Hospital, Oxford Rd, Manchester, UK
    Arch Dis Child 97:812-7. 2012
    ..We studied the outcome of genetic assessment of 80 children referred to a regional genetics centre between 2004 and 2010 to identify the value of the genetic assessment in cases of suspected FASD...
  6. doi request reprint Four limb syndactyly, constriction rings and skin tags; amniotic bands or disorganization-like syndrome
    Mary O'Driscoll
    Medical Genetics Research Group and Regional Genetics Service, St Mary s Hospital, Manchester, UK
    Clin Dysmorphol 17:255-8. 2008
    ..Mutations in the human homologue of the mouse gene disorganization gene may also be the mechanism for the combination of constriction/duplication abnormalities with distant skin tags seen in this patient...
  7. doi request reprint Molecular study of 33 families with Fraser syndrome new data and mutation review
    M M van Haelst
    Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
    Am J Med Genet A 146:2252-7. 2008
    ..Mutations were identified in only 43% of the cases suggesting that other genes syntenic to murine genes causing blebbing may be responsible for FS as well...
  8. ncbi request reprint Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B
    Meredith Wilson
    Department of Clinical Genetics, The Children s Hospital at Westmead, Sydney, Australia
    Am J Med Genet A 119:257-65. 2003
    ....
  9. doi request reprint No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome
    Benjamin Abo-Dalo
    Institute of Human Genetics, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Clin Dysmorphol 17:181-5. 2008
  10. pmc The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type
    Gen Nishimura
    J Med Genet 44:e73. 2007
    ..Our experience expands the phenotypic spectrum of SBDS mutations, which, at its severest end, results in severe neonatal SMD...
  11. doi request reprint Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
    Katherine A Rauen
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA
    Am J Med Genet A 146:1205-17. 2008
  12. ncbi request reprint Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway
    Judith Allanson
    Eur J Med Genet 50:482-3. 2007
  13. pmc Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus
    F Lucy Raymond
    Cambridge Institute of Medical Research, University of Cambridge, Cambridge, CB2 2XY, UK
    Am J Hum Genet 80:982-7. 2007
    ..Furthermore, now that the first palmitoyltransferase that causes mental retardation has been identified, defects in other palmitoylation transferases become good candidates for causing other mental retardation syndromes...
  14. pmc Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor
    Patrick S Tarpey
    Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Am J Hum Genet 80:345-52. 2007
    ..The relatively high frequency of CUL4B mutations in this series indicates that it is one of the most commonly mutated genes underlying XLMR and suggests that its introduction into clinical diagnostics should be a high priority...
  15. ncbi request reprint Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein
    Lesley McGregor
    Molecular Medicine, Institute of Child Health, London WC1N 1EH, UK
    Nat Genet 34:203-8. 2003
    ..Thus, the bl mouse is a model for Fraser syndrome in humans, a disorder caused by disrupted epithelial integrity in utero...
  16. ncbi request reprint Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22
    Gillian Turner
    Hunter Genetics, University of Newcastle, PO Box 84, Waratah, New South Wales 2298, Australia
    Am J Med Genet A 117:245-50. 2003
    ..Mutations in the GRPR gene and M6b genes were excluded by sequence analysis. Nearby genes in which mutations are known to be associated with mental retardation (RPS6KA3, STK9, and VCXA, B and C), were excluded by position...
  17. ncbi request reprint Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
    Andrew M Fisher
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK
    Hum Genet 111:290-6. 2002
    ..5 years and Patient 2 showed breast development in infancy. Both patients shared some dysmorphological features, namely short palpebral fissures, a prominent nasal tip, a short philtrum and 5th finger clinodactyly...
  18. ncbi request reprint Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
    Robyn V Jamieson
    University Department of Medical Genetics and Regional Genetic Service, St Mary s Hospital, Manchester, M13 0JH, UK
    Hum Mol Genet 11:33-42. 2002
    ..The 16q23.2 breakpoint transects the common fragile site, FRA16D, providing a molecular demonstration of a germline break in a common fragile site...