John Tolmie

John Tolmie

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John Tolmie

John Tolmie

Publications by authors named "John Tolmie"

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The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.

Eur J Hum Genet 2015 May 13;23(5):561-3. Epub 2014 Aug 13.

Institute of Human Genetics, Jena University Hospital, Jena, Germany.

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http://dx.doi.org/10.1038/ejhg.2014.166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402639PMC
May 2015

DNA copy number variations are important in the complex genetic architecture of müllerian disorders.

Fertil Steril 2015 Apr 20;103(4):1021-1030.e1. Epub 2015 Feb 20.

School of Medicine, College of Medical Veterinary and Life Sciences, University of Glasgow, Glasgow, United Kingdom.

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http://dx.doi.org/10.1016/j.fertnstert.2015.01.008DOI Listing
April 2015

How to use… microarray comparative genomic hybridisation to investigate developmental disorders.

Arch Dis Child Educ Pract Ed 2015 Feb 4;100(1):24-9. Epub 2014 Sep 4.

West of Scotland Department of Clinical Genetics, Level 2A, Southern General Hospital, Glasgow, UK.

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http://dx.doi.org/10.1136/archdischild-2014-306022DOI Listing
February 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Eur J Hum Genet 2014 Aug 8;22(8):988-94. Epub 2014 Jan 8.

1] Telethon Institute of Genetics and Medicine, Naples, Italy [2] Department of Translational Medicine, Federico II University of Naples, Naples, Italy.

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http://dx.doi.org/10.1038/ejhg.2013.283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3984901PMC
August 2014

Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?

Clin Genet 2013 Feb 9;83(2):187-90. Epub 2012 Apr 9.

North Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, UK.

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http://dx.doi.org/10.1111/j.1399-0004.2012.01876.xDOI Listing
February 2013

Situs inversus totalis and congenital hypoglossia associated with atrial ectopic bradycardia and normal neurodevelopmental outcome.

Clin Dysmorphol 2013 Jan;22(1):36-8

Neonatal Unit, Princess Royal Maternity, Yorkhill Hospitals, Glasgow, Scotland, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3283590aacDOI Listing
January 2013

Clinical features and respiratory complications in Myhre syndrome.

Eur J Med Genet 2011 Nov-Dec;54(6):e553-9. Epub 2011 Jul 21.

Ferguson-Smith Dept. of Clinical Genetics, Yorkhill Hospital, Glasgow, UK.

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http://dx.doi.org/10.1016/j.ejmg.2011.07.001DOI Listing
January 2012

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.

Nat Genet 2011 Dec 11;44(1):85-8. Epub 2011 Dec 11.

Département de Génétique, Unité INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1038/ng.1016DOI Listing
December 2011

The face of Ulnar Mammary syndrome?

Eur J Med Genet 2011 May-Jun;54(3):301-5. Epub 2011 Jan 1.

Yorkshire Regional Genetics Centre, Ward 10, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7 9TF, England, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212100015
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http://dx.doi.org/10.1016/j.ejmg.2010.12.010DOI Listing
September 2011

Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.

Eur J Paediatr Neurol 2010 Jul 21;14(4):349-53. Epub 2009 Dec 21.

Ferguson Smith Centre for Clinical Genetics, Yorkhill Hospital, Dalnair Street, Glasgow, G3 8SJ, UK.

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http://dx.doi.org/10.1016/j.ejpn.2009.11.001DOI Listing
July 2010

Roberts syndrome: facial dysmorphology in a mildly affected case.

Clin Dysmorphol 2009 Oct;18(4):236-7

Ferguson Smith Centre for Clinical Genetics, Royal Hospital for Sick Children, Glasgow, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328330209bDOI Listing
October 2009

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet 2009 May 19;41(5):535-43. Epub 2009 Apr 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007PMC
May 2009

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

The movement disorders of Coffin-Lowry syndrome.

Brain Dev 2005 Mar;27(2):108-13

Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland G3 8SJ, UK.

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http://dx.doi.org/10.1016/j.braindev.2003.11.010DOI Listing
March 2005

Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism.

Brain Dev 2005 Mar;27(2):118-24

Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Yorkhill, Glasgow, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S038776040400110
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http://dx.doi.org/10.1016/j.braindev.2003.10.006DOI Listing
March 2005

Craniosynostosis associated with intracranial calcification: a novel recessive syndrome.

Clin Dysmorphol 2003 Oct;12(4):215-20

Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, G3 8SJ.

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http://dx.doi.org/10.1097/00019605-200310000-00001DOI Listing
October 2003

Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome.

Clin Dysmorphol 2003 Apr;12(2):133-6

Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, G3 8SJ UK.

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http://dx.doi.org/10.1097/00019605-200304000-00012DOI Listing
April 2003