Louise C Wilson

Summary

Affiliation: Great Ormond Street
Country: UK

Publications

  1. ncbi request reprint Albright's hereditary osteodystrophy
    Louise C Wilson
    Clinical and Molecular Genetics Unit, Great Ormond Street Hospital and Institute of Child Health, London, UK
    J Pediatr Endocrinol Metab 19:671-3. 2006
  2. ncbi request reprint Patched mutations and hairy skin patches: a new sign in Gorlin syndrome
    Louise C Wilson
    Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK
    Am J Med Genet A 140:2625-30. 2006
  3. doi request reprint Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome
    Khalid Hussain
    Department of Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK
    Pediatr Diabetes 10:193-7. 2009
  4. pmc Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance
    Sahar Mansour
    South West Thames Regional Genetics Service, St George s Hospital NHS Trust, London, UK
    Eur J Hum Genet 20:1024-31. 2012
  5. pmc Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untra
    Sarah J Rickard
    Clinical and Molecular Genetics Unit, Institute of Child Health, and Great Ormond Street Hospital NHS Trust, London, United Kingdom
    Am J Hum Genet 72:961-74. 2003
  6. ncbi request reprint Albright's hereditary osteodystrophy and pseudohypoparathyroidism
    Louise C Wilson
    Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK
    Semin Musculoskelet Radiol 6:273-83. 2002
  7. ncbi request reprint Cranio-osteoarthropathy in sibs
    Tabib Dabir
    Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital for Children, UCL, London, UK
    Clin Dysmorphol 16:197-201. 2007
  8. ncbi request reprint Immunological abnormalities in CHARGE syndrome
    Karin Writzl
    Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK
    Eur J Med Genet 50:338-45. 2007
  9. pmc The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
    Stephen R F Twigg
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom
    Am J Hum Genet 78:999-1010. 2006

Collaborators

  • Raoul C M Hennekam
  • Sahar Mansour
  • Stephen P Robertson
  • Khalid Hussain
  • Karin Writzl
  • Tabib Dabir
  • Stephen R F Twigg
  • Sarah J Rickard
  • Ritika R Kapoor
  • Chela James
  • Kausik Banerjee
  • Raja Padidela
  • John Harper
  • Chris Bennett
  • Catherine M Cale
  • A M Sills
  • Christine M Hall
  • Christine M Pierce
  • A Jeannette M Hoogeboom
  • Andrew O M Wilkie
  • Alexa M J Kidd
  • M Teresa Lourenco
  • Elizabeth Sweeney
  • John B Mulliken
  • Steven A Wall
  • Anne Goriely
  • Richard B Fisher
  • Han G Brunner
  • Irene M J Mathijssen
  • Jenny E V Morton
  • Indira B Taylor
  • Kazuya Matsumoto

Detail Information

Publications9

  1. ncbi request reprint Albright's hereditary osteodystrophy
    Louise C Wilson
    Clinical and Molecular Genetics Unit, Great Ormond Street Hospital and Institute of Child Health, London, UK
    J Pediatr Endocrinol Metab 19:671-3. 2006
  2. ncbi request reprint Patched mutations and hairy skin patches: a new sign in Gorlin syndrome
    Louise C Wilson
    Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK
    Am J Med Genet A 140:2625-30. 2006
    ..We believe that the patches represent a genuine physical sign associated with Gorlin syndrome, and discuss molecular mechanisms by which they might arise...
  3. doi request reprint Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome
    Khalid Hussain
    Department of Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK
    Pediatr Diabetes 10:193-7. 2009
    ..The presence of consanguinity in the parents and similarity of clinical features in the siblings are suggestive of a novel autoimmune disorder, possibly secondary to autosomal recessive inheritance...
  4. pmc Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance
    Sahar Mansour
    South West Thames Regional Genetics Service, St George s Hospital NHS Trust, London, UK
    Eur J Hum Genet 20:1024-31. 2012
    ..In our cohort, we have observed one instance of sibling recurrence and parental consanguinity in three of the families, indicating that autosomal recessive inheritance is likely...
  5. pmc Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untra
    Sarah J Rickard
    Clinical and Molecular Genetics Unit, Institute of Child Health, and Great Ormond Street Hospital NHS Trust, London, United Kingdom
    Am J Hum Genet 72:961-74. 2003
    ..This cluster of overlapping transcripts represents a useful model system in which to analyze the effects that mutant sequence has on mRNA-in particular, splicing-and the mechanisms of nonsense-mediated mRNA decay...
  6. ncbi request reprint Albright's hereditary osteodystrophy and pseudohypoparathyroidism
    Louise C Wilson
    Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK
    Semin Musculoskelet Radiol 6:273-83. 2002
    ..The causes of PHP type Ic and PHP type II are not yet clear, and the latter is likely to be heterogeneous...
  7. ncbi request reprint Cranio-osteoarthropathy in sibs
    Tabib Dabir
    Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital for Children, UCL, London, UK
    Clin Dysmorphol 16:197-201. 2007
    ..The present cases demonstrate the phenotypic variability of the condition. The consanguinity in the present family and analysis of previously described cases support autosomal recessive inheritance for cranio-osteoarthropathy...
  8. ncbi request reprint Immunological abnormalities in CHARGE syndrome
    Karin Writzl
    Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK
    Eur J Med Genet 50:338-45. 2007
    ..We propose to evaluate immune functions in all CHARGE syndrome patients, to estimate the frequency and nature of the accompanying immunodeficiency, and to obtain better data regarding prognosis and management...
  9. pmc The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
    Stephen R F Twigg
    Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom
    Am J Hum Genet 78:999-1010. 2006
    ..These results highlight the importance of considering possible origins of mutation in the counseling of families with CFNS and provide a generally applicable approach to the combined analysis of mosaic and germline mutations...