Publications by authors named "Bruce E Hayward"

26Publications

A point mutation in the nuclease domain of MLH3 eliminates repeat expansions in a mouse stem cell model of the Fragile X-related disorders.

Nucleic Acids Res 2020 08;48(14):7856-7863

Section on Gene Structure and Disease Laboratory of Cell and Molecular Biology National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/nar/gkaa573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430641PMC
August 2020

Assays for Determining Repeat Number, Methylation Status, and AGG Interruptions in the Fragile X-Related Disorders.

Methods Mol Biol 2019 ;1942:49-59

Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/978-1-4939-9080-1_4DOI Listing
August 2019

Recent advances in assays for the fragile X-related disorders.

Hum Genet 2017 10 2;136(10):1313-1327. Epub 2017 Sep 2.

Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, Building 8, Room 2A19, National Institutes of Health, 8 Center Drive MSC 0830, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s00439-017-1840-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769695PMC
October 2017

Improved Assays for AGG Interruptions in Fragile X Premutation Carriers.

J Mol Diagn 2017 11 14;19(6):828-835. Epub 2017 Aug 14.

Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2017.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5807927PMC
November 2017

A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders.

J Mol Diagn 2016 09 12;18(5):762-774. Epub 2016 Aug 12.

Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5807930PMC
September 2016

Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders.

Front Genet 2014 17;5:226. Epub 2014 Jul 17.

Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda MD, USA.

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http://dx.doi.org/10.3389/fgene.2014.00226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4101883PMC
August 2014

Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome.

Hum Mol Genet 2014 Jun 12;23(11):2940-52. Epub 2014 Jan 12.

Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, and.

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http://dx.doi.org/10.1093/hmg/ddu006DOI Listing
June 2014

Circulating microRNA profiles reflect the presence of breast tumours but not the profiles of microRNAs within the tumours.

Cell Oncol (Dordr) 2012 Aug 21;35(4):301-8. Epub 2012 Jul 21.

Gene Regulation and Cancer Group, Leeds Institute of Molecular Medicine, University of Leeds, St. James's University Hospital, UK.

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http://link.springer.com/10.1007/s13402-012-0089-1
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http://dx.doi.org/10.1007/s13402-012-0089-1DOI Listing
August 2012

Recurrent hydatidiform mole: detection of two novel mutations in the NLRP7 gene in two Egyptian families.

Eur J Obstet Gynecol Reprod Biol 2012 Oct 4;164(2):211-5. Epub 2012 Jul 4.

Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.

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http://dx.doi.org/10.1016/j.ejogrb.2012.06.017DOI Listing
October 2012

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

Am J Hum Genet 2009 Nov 5;85(5):737-44. Epub 2009 Nov 5.

Section of Genetics (Leeds Institute of Molecular Medicine [LIMM]), Wellcome Trust Brenner Building, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1016/j.ajhg.2009.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2775839PMC
November 2009

IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease.

Hum Mutat 2009 Jun;30(6):960-7

Centre for Autozygosity Mapping and Section of Genetics, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK.

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http://dx.doi.org/10.1002/humu.20974DOI Listing
June 2009

Ketohexokinase: expression and localization of the principal fructose-metabolizing enzyme.

J Histochem Cytochem 2009 Aug 13;57(8):763-74. Epub 2009 Apr 13.

Leeds Institute of Molecular Medicine, University of Leeds, St James's University Hospital, Beckett Street, Leeds LS9 7TF, United Kingdom.

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http://dx.doi.org/10.1369/jhc.2009.953190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2713076PMC
August 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

Extensive gene conversion at the PMS2 DNA mismatch repair locus.

Hum Mutat 2007 May;28(5):424-30

Leeds Institute of Molecular Medicine, University of Leeds and Yorkshire Regional Genetics Service, St James's University Hospital, Leeds, United Kingdom.

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http://dx.doi.org/10.1002/humu.20457DOI Listing
May 2007

PMS2 mutations in childhood cancer.

J Natl Cancer Inst 2006 Mar;98(5):358-61

University of Leeds, Yorkshire Regional Genetics Service, United Kingdom.

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http://dx.doi.org/10.1093/jnci/djj073DOI Listing
March 2006

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome.

Am J Hum Genet 2004 May 7;74(5):954-64. Epub 2004 Apr 7.

Molecular Medicine Unit, University of Leeds, Leeds LS9 7TF, United Kingdom.

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http://dx.doi.org/10.1086/420796DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181988PMC
May 2004

Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria.

Diabetes 2003 Sep;52(9):2426-32

Molecular Medicine Unit, University of Leeds, St. James's University Hospital, Leeds, UK.

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http://dx.doi.org/10.2337/diabetes.52.9.2426DOI Listing
September 2003

A global disorder of imprinting in the human female germ line.

Nature 2002 Apr;416(6880):539-42

University of Leeds, Molecular Medicine Unit, St. James's University Hospital, UK.

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http://www.nature.com/articles/416539a
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http://dx.doi.org/10.1038/416539aDOI Listing
April 2002