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1

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

Foilsithe / Cruthaithe 2003

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Revisão

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2

Fetal valproate syndrome. de réir Jill Clayton‐Smith, Dian Donnai

Foilsithe / Cruthaithe 1995

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Artigo

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3

Angelman syndrome. de réir Jill Clayton‐Smith, Marcus Pembrey

Foilsithe / Cruthaithe 1992

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Artigo

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4

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

Foilsithe / Cruthaithe 1997

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Artigo

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5

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

Foilsithe / Cruthaithe 2010

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Artigo

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6

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

Foilsithe / Cruthaithe 2002

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Artigo

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7

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

Foilsithe / Cruthaithe 2014

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Revisão

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8

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

Foilsithe / Cruthaithe 2008

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Artigo

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9

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

Foilsithe / Cruthaithe 1993

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Artigo

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10

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

Foilsithe / Cruthaithe 2019

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Artigo

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11

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

Foilsithe / Cruthaithe 1999

Faigh an téacs iomlán
Artigo

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12

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

Foilsithe / Cruthaithe 2017

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Revisão

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13

Interchromosomal Insertional Translocation at Xq26.3 AltersSOX3Expression in an Individual With XX Male Sex Reversal de réir Bryan P. Haines, James Hughes, Mark Corbett, Marie Shaw, Josie Innes, Leena Patel, Jozef Gécz, Jill Clayton‐Smith, Paul Q. Thomas

Foilsithe / Cruthaithe 2015

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Artigo

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14

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

Foilsithe / Cruthaithe 2016

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Artigo

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15

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

Foilsithe / Cruthaithe 2021

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Artigo

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16

Deletions in theVPS13B(COH1) gene as a cause of Cohen syndrome de réir Irina Balikova, A‐E Lehesjoki, Thomy de Ravel, Bernard Thienpont, Kate Chandler, Jill Clayton‐Smith, A L Träskelin, J-P. Fryns, Joris Vermeesch

Foilsithe / Cruthaithe 2009

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Artigo

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17

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

Foilsithe / Cruthaithe 2013

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Artigo

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18

The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs de réir 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

Foilsithe / Cruthaithe 2013

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Artigo

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19

Assisted reproductive therapies and imprinting disorders—a preliminary British survey de réir 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

Foilsithe / Cruthaithe 2005

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Artigo

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20

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

Foilsithe / Cruthaithe 2016

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Revisão

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Sábháilte in:

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

Fetal valproate syndrome. de réir Jill Clayton‐Smith, Dian Donnai

Angelman syndrome. de réir Jill Clayton‐Smith, Marcus Pembrey

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

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

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

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

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

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

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

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

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

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

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

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

Assisted reproductive therapies and imprinting disorders—a preliminary British survey de réir 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

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

Torthaí cuardaigh - Jill Clayton‐Smith

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

Fetal valproate syndrome. de réir Jill Clayton‐Smith, Dian Donnai

Angelman syndrome. de réir Jill Clayton‐Smith, Marcus Pembrey

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

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

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

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

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

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

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

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

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

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

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

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

Assisted reproductive therapies and imprinting disorders—a preliminary British survey de réir 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

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

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