Risultati della ricerca - Jill Clayton‐Smith

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  1. 1
    Angelman syndrome: a review of the clinical and genetic aspects

    Angelman syndrome: a review of the clinical and genetic aspects di Jill Clayton‐Smith

    Pubblicazione 2003
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  2. 2
    Fetal valproate syndrome.

    Fetal valproate syndrome. di Jill Clayton‐Smith, Dian Donnai

    Pubblicazione 1995
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  3. 3
    Angelman syndrome.

    Angelman syndrome. di Jill Clayton‐Smith, Marcus Pembrey

    Pubblicazione 1992
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  4. 4
    Evolving phenotype of Marfan's syndrome

    Evolving phenotype of Marfan's syndrome di K. Lipscomb, Jill Clayton‐Smith, R Harris

    Pubblicazione 1997
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  5. 5
    Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

    Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes di Simon Ramsden, Jill Clayton‐Smith, Rachael Birch, Karin Buiting

    Pubblicazione 2010
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  6. 6
    Outcome of pregnancy in women attending an outpatient epilepsy clinic: adverse features associated with higher doses of sodium valproate

    Outcome of pregnancy in women attending an outpatient epilepsy clinic: adverse features associated with higher doses of sodium valproate di George Mawer, Jill Clayton‐Smith, Helen Coyle, Usha Kini

    Pubblicazione 2002
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  7. 7
    Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

    Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update di Ana Beleza‐Meireles, Jill Clayton‐Smith, Jorge Saraiva, May Tassabehji

    Pubblicazione 2014
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  8. 8
    AUTISM SPECTRUM DISORDERS FOLLOWING IN UTERO EXPOSURE TO ANTIEPILEPTIC DRUGS

    AUTISM SPECTRUM DISORDERS FOLLOWING IN UTERO EXPOSURE TO ANTIEPILEPTIC DRUGS di Rebecca Bromley, G. E. Mawer, Jill Clayton‐Smith, Gus A. Baker

    Pubblicazione 2008
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  9. 9
    Molecular mechanisms in Angelman syndrome: a survey of 93 patients.

    Molecular mechanisms in Angelman syndrome: a survey of 93 patients. di Christopher T. Chan, Jill Clayton‐Smith, Xingbo Cheng, Jess Buxton, T. Webb, Marcus Pembrey, S Malcolm

    Pubblicazione 1993
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  10. 10
    Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

    Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes di Jasmin Beygo, Karin Buiting, Simon Ramsden, Rachael Ellis, Jill Clayton‐Smith, Deniz Kanber

    Pubblicazione 2019
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  11. 11
    Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis

    Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis di Graeme Black, Rahat Perveen, Richard Bonshek, Mark Cahill, Jill Clayton-Smith, I. Christopher Lloyd, David McLeod

    Pubblicazione 1999
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  12. 12
    Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements

    Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Ab... di Irena Vrečar, Josie Innes, Elizabeth A. Jones, Helen Kingston, William Reardon, Bronwyn Kerr, Jill Clayton‐Smith, Sofia Douzgou

    Pubblicazione 2017
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  13. 13
    Interchromosomal Insertional Translocation at Xq26.3 Alters<i>SOX3</i>Expression in an Individual With XX Male Sex Reversal

    Interchromosomal Insertional Translocation at Xq26.3 Alters<i>SOX3</i>Expression in an Individual With XX Male Sex Reversal di Bryan P. Haines, James Hughes, Mark Corbett, Marie Shaw, Josie Innes, Leena Patel, Jozef Gécz, Jill Clayton‐Smith, Paul Q. Thomas

    Pubblicazione 2015
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  14. 14
    Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

    Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach di Mahmoud Musleh, Georgina Hall, I. Christopher Lloyd, Rachel Gillespie, S. Waller, Sofia Douzgou, Jill Clayton‐Smith, Elias Kehdi, Graeme Black, Jane Ashworth

    Pubblicazione 2016
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  15. 15
    Prevalence of fetal alcohol spectrum disorder in Greater Manchester, UK: An active case ascertainment study

    Prevalence of fetal alcohol spectrum disorder in Greater Manchester, UK: An active case ascertainment study di Robyn McCarthy, Raja Mukherjee, Kate M. Fleming, Jonathan Green, Jill Clayton‐Smith, Alan D. Price, Clare S. Allely, Penny A. Cook

    Pubblicazione 2021
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  16. 16
    Deletions in the<i>VPS13B</i>(<i>COH1</i>) gene as a cause of Cohen syndrome

    Deletions in the<i>VPS13B</i>(<i>COH1</i>) gene as a cause of Cohen syndrome di Irina Balikova, A‐E Lehesjoki, Thomy de Ravel, Bernard Thienpont, Kate Chandler, Jill Clayton‐Smith, A L Träskelin, J-P. Fryns, Joris Vermeesch

    Pubblicazione 2009
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  17. 17
    A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

    A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders di Daniel A. King, Tomas Fitzgerald, Ray Miller, Natalie Canham, Jill Clayton‐Smith, Diana Johnson, Sahar Mansour, Fiona Stewart, Pradeep Vasudevan, Matthew E. Hurles

    Pubblicazione 2013
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  18. 18
    The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs

    The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs di Rebecca Bromley, G. E. Mawer, Michelle Briggs, Christopher P. Cheyne, Jill Clayton‐Smith, Marta García‐Fiñana, Rachel Kneen, S. B. Lucas, Rebekah Shallcross, Gus A. Baker, Gus A. Baker, Michelle Briggs, Rebecca Bromley, Jill Clayton‐Smith, Pete Dixon, Alan Fryer, Alison Gummery, Rachel Kneen, Lydia Kerr, S. B. Lucas, G. E. Mawer, Rebekah Shallcross

    Pubblicazione 2013
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  19. 19
    Assisted reproductive therapies and imprinting disorders—a preliminary British survey

    Assisted reproductive therapies and imprinting disorders—a preliminary British survey di Alastair Sutcliffe, Catherine Peters, Sarah Bowdin, I. Karen Temple, William Reardon, Lisa M Wilson, Jill Clayton‐Smith, L A Brueton, Wendy Bannister, Eamonn R. Maher

    Pubblicazione 2005
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  20. 20
    Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child

    Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child di Jennifer Weston, Rebecca Bromley, Cerian F Jackson, Naghme Adab, Jill Clayton‐Smith, J Greenhalgh, Juliet Hounsome, Andrew McKay, Catrin Tudur Smith, Anthony G Marson

    Pubblicazione 2016
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