Publications by authors named "Louise Brueton"

34Publications

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.

Eur J Hum Genet 2016 Mar 10;24(3):373-80. Epub 2015 Jun 10.

Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757771PMC
March 2016

Axenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion.

Am J Med Genet A 2014 Jul 8;164A(7):1695-701. Epub 2014 Apr 8.

Department of Clinical Genetics, Birmingham Women's NHS Foundation Trust, Birmingham, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.36540DOI Listing
July 2014

Mutations in GRIP1 cause Fraser syndrome.

J Med Genet 2012 May 17;49(5):303-6. Epub 2012 Apr 17.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2011-100590DOI Listing
May 2012

TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.

Eur J Hum Genet 2012 Aug 15;20(8):863-9. Epub 2012 Feb 15.

Department of Clinical Genetics, Birmingham Women's NHS Foundation Trust, Birmingham, UK.

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http://dx.doi.org/10.1038/ejhg.2012.16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400730PMC
August 2012

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

J Med Genet 2012 Jan;49(1):21-6

Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1136/jmedgenet-2011-100378DOI Listing
January 2012

KCNJ10 mutations disrupt function in patients with EAST syndrome.

Nephron Physiol 2011 18;119(3):p40-8. Epub 2011 Aug 18.

Centre for Nephrology, University College London, Royal Free Hospital, London, UK.

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http://dx.doi.org/10.1159/000330250DOI Listing
April 2014

A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria.

Pediatr Neurol 2011 Jul;45(1):49-53

Division of Newborn Medicine, Department of Medicine, Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135102PMC
July 2011

Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).

Eur J Hum Genet 2010 Feb 9;18(2):157-62. Epub 2009 Sep 9.

Department of Genetics and Molecular Pathology, Neurogenetics Laboratory, SA Pathology, Adelaide, Australia.

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http://dx.doi.org/10.1038/ejhg.2009.139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987188PMC
February 2010

Griscelli syndrome type 1: a report of two cases and review of the literature.

Clin Dysmorphol 2009 Jul;18(3):145-8

North West Thames Regional Genetics Centre, Northwick Park and St Mark's Hospital, Harrow, London, UK.

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https://insights.ovid.com/crossref?an=00019605-200907000-000
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http://dx.doi.org/10.1097/MCD.0b013e328317b870DOI Listing
July 2009

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

Hum Reprod 2009 Mar 10;24(3):741-7. Epub 2008 Dec 10.

Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham B15 2TT, UK.

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https://academic.oup.com/humrep/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humrep/den406DOI Listing
March 2009

A survey of assisted reproductive technology births and imprinting disorders.

Hum Reprod 2007 Dec 5;22(12):3237-40. Epub 2007 Oct 5.

Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, Birmingham, UK.

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https://academic.oup.com/humrep/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humrep/dem268DOI Listing
December 2007

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 tale of a nail sign in chromosome 4q34 deletion syndrome.

Clin Dysmorphol 2006 Jul;15(3):127-32

Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, West Midlands, UK.

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http://dx.doi.org/10.1097/01.mcd.0000203632.86190.64DOI Listing
July 2006

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.

Am J Med Genet A 2006 May;140(9):1004-9

Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02129, USA.

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http://dx.doi.org/10.1002/ajmg.a.31186DOI Listing
May 2006

Progressive multilayered banded skin in Winchester syndrome.

J Am Acad Dermatol 2004 Feb;50(2 Suppl):S53-6

Department of Dermatology (Hammersmith Hospitals Trust), Chelsea and Westminster Hospital, 369 Fulham Road, London SW10 9NH, UK.

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http://dx.doi.org/10.1016/s0190-9622(03)02466-6DOI Listing
February 2004

Diversity of neuromuscular pathology in lethal multiple pterygium syndrome.

Pediatr Dev Pathol 2003 Jan-Feb;6(1):59-68. Epub 2002 Nov 7.

Department of Histopathology, Birmingham Women's Hospital, Metchley Park Road, Birmingham B15 2TG, UK.

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http://dx.doi.org/10.1007/s10024-002-0042-9DOI Listing
July 2003

Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.

Am J Med Genet 2002 Nov;113(2):167-72

Division of Medical Genetics, University of Leicester, and Department of Molecular Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK.

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http://doi.wiley.com/10.1002/ajmg.10751
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http://dx.doi.org/10.1002/ajmg.10751DOI Listing
November 2002

First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1.

Invest Ophthalmol Vis Sci 2002 Aug;43(8):2540-5

Department of Cell and Molecular Biology, Faculty of Medicine, Imperial College, London, United Kingdom.

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August 2002