Helen Kingston

Helen Kingston

UNVERIFIED PROFILE

Are you Helen Kingston?   Register this Author

Register author
Helen Kingston

Helen Kingston

Publications by authors named "Helen Kingston"

Are you Helen Kingston?   Register this Author

35Publications

1140Reads

48Profile Views

Connectedness benefits both patients and staff.

Authors:
Helen M Kingston

BMJ 2018 10 16;363:k4305. Epub 2018 Oct 16.

Frome Medical Practice, Frome BA11 2FH, UK.

View Article

Download full-text PDF

Source
http://www.bmj.com/lookup/doi/10.1136/bmj.k4305
Publisher Site
http://dx.doi.org/10.1136/bmj.k4305DOI Listing
October 2018

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.

J Pediatr Genet 2017 Sep 12;6(3):129-141. Epub 2017 Apr 12.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Academic Health Sciences Centre, Manchester, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0037-1601335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548525PMC
September 2017

Familial childhood-onset progressive cerebellar syndrome associated with the mutation.

Neurol Genet 2017 Apr 27;3(2):e145. Epub 2017 Mar 27.

Department of Neurosciences (F.J.), King's College Hospital, London; MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience (F.J., H.H., M.G.H.), UCL Institute of Neurology; MRC Computational Genomics Analysis and Training Programme (K.F., D.S., A.H.), University of Oxford; Central Manchester University Hospitals (H.K.); and NIHR UCLH Biomedical Research Centre (S.M.S.), Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5367920PMC
April 2017

Community engagement and education: addressing the needs of South Asian families with genetic disorders.

J Community Genet 2016 Oct 10;7(4):317-323. Epub 2016 Sep 10.

Genomic medicine, St. Mary's Hospital, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, M13 9WL, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12687-016-0278-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5138164PMC
October 2016

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Eur J Med Genet 2015 Sep 20;58(9):455-65. Epub 2015 Jul 20.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.07.003DOI Listing
September 2015

Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.

Ann Rheum Dis 2015 Jun 17;74(6):1249-56. Epub 2014 Jan 17.

Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/annrheumdis-2013-204309DOI Listing
June 2015

'You don't get told anything, they don't do anything and nothing changes'. Medicine as a resource and constraint in progressive ataxia.

Health Expect 2015 Apr 24;18(2):177-87. Epub 2012 Oct 24.

Health Sciences Research Group - Methodology, The University of Manchester, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hex.12016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5060777PMC
April 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.

View Article

Download full-text PDF

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

Corneal confocal microscopy detects small-fiber neuropathy in Charcot-Marie-Tooth disease type 1A patients.

Muscle Nerve 2012 Nov 19;46(5):698-704. Epub 2012 Sep 19.

Division of Cardiovascular Medicine, University of Manchester and Wellcome Trust Clinical Research Facility, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.23377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3469745PMC
November 2012

Heterogeneity in spinal muscular atrophy with respiratory distress type 1.

J Pediatr Neurosci 2012 Sep;7(3):197-9

Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/1817-1745.106478DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3611909PMC
September 2012

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.

Am J Med Genet A 2011 Dec 14;155A(12):2910-5. Epub 2011 Oct 14.

Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34292DOI Listing
December 2011

Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families.

J Community Genet 2010 Jun 20;1(2):73-81. Epub 2010 Aug 20.

Genetic Medicine and MAHSC, St. Mary's Hospital, Central Manchester University Hospitals, Manchester, M13 0JH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12687-010-0012-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185987PMC
June 2010

Haploinsufficiency of the nerve growth factor beta gene in a 1p13 deleted female child with an insensitivity to pain.

Dev Med Child Neurol 2009 Oct 5;51(10):833-7. Epub 2008 Dec 5.

Regional Genetics Service, Central Manchester and Manchester Children's Hospitals, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-8749.2008.03173.xDOI Listing
October 2009

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.

Mol Vis 2008 Jan 24;14:118-24. Epub 2008 Jan 24.

Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2254972PMC
January 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.

View Article

Download full-text PDF

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

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Nat Genet 2007 Sep 5;39(9):1134-9. Epub 2007 Aug 5.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Molecular Pathology, F-67400 Illkirch, France.

View Article

Download full-text PDF

Source
http://www.nature.com/doifinder/10.1038/ng2086
Publisher Site
http://dx.doi.org/10.1038/ng2086DOI Listing
September 2007

Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy.

Dev Med Child Neurol 2005 Dec;47(12):835-7

Paediatric Neurology, Royal Preston Hospital, Preston, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S0012162205001763DOI Listing
December 2005

Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site.

Cancer Genet Cytogenet 2004 Oct;154(2):169-74

Department of Paediatric Oncology, Central Manchester and Manchester Children's University Hospitals Trust, Manchester, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cancergencyto.2004.02.022DOI Listing
October 2004

Feelings Associated with Being a Carrier and Characteristics of Reproductive Decision Making in Women Known to Be Carriers of X-linked Conditions.

J Health Psychol 2002 Mar;7(2):169-81

West Midlands Regional Genetics Service, Birmingham Women's Hospital, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1359105302007002456DOI Listing
March 2002