Louise A Brueton

Louise A Brueton

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Louise A Brueton

Louise A Brueton

Publications by authors named "Louise A Brueton"

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14Publications

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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

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

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

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

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