Publications by authors named "Oliver Quarrell"

55Publications

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

Hum Mol Genet 2019 11;28(21):3543-3551

Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.

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http://dx.doi.org/10.1093/hmg/ddz200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927460PMC
November 2019

Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease?

Mov Disord 2019 04 20;34(4):584-585. Epub 2019 Feb 20.

Swiss HD Center, Neurozentrum Siloah and Department of Neurology, University of Bern, Bern, Switzerland.

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http://dx.doi.org/10.1002/mds.27640DOI Listing
April 2019

Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.

Pediatr Dev Pathol 2018 Nov-Dec;21(6):580-584. Epub 2018 Mar 4.

1 Department of Dermatology, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.

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http://dx.doi.org/10.1177/1093526618761497DOI Listing
December 2018

A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease.

Neurodegener Dis Manag 2017 Oct 18;7(5):307-315. Epub 2017 Oct 18.

Departments of Psychiatry, Pediatrics, & Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.

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http://dx.doi.org/10.2217/nmt-2017-0019DOI Listing
October 2017

The global prevalence of Huntington's disease: a systematic review and discussion.

Neurodegener Dis Manag 2016 08 20;6(4):331-43. Epub 2016 Jul 20.

Department of Clinical Genetics, Sheffield Children's Hospital, Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK.

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http://dx.doi.org/10.2217/nmt-2016-0008DOI Listing
August 2016

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Diagnostic genetic testing for Huntington's disease.

Pract Neurol 2015 Feb 28;15(1):80-4. Epub 2014 Aug 28.

Department of Neurology, Leiden University Medical Centre (LUMC), Leiden, The Netherlands.

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http://dx.doi.org/10.1136/practneurol-2013-000790DOI Listing
February 2015

Task-specific training in Huntington disease: a randomized controlled feasibility trial.

Phys Ther 2014 Nov 10;94(11):1555-68. Epub 2014 Jul 10.

M. Busse, PhD, MSc(Med), BSc(Med)Hons, MCSP, BSc(Physiotherapy), School of Healthcare Sciences, Cardiff University, Ty Dewi Sant, Heath Park, Cardiff, CF14 4XN United Kingdom.

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http://dx.doi.org/10.2522/ptj.20140123DOI Listing
November 2014

Managing juvenile Huntington's disease.

Neurodegener Dis Manag 2013 Jun;3(3)

Centre for Neurogenetics & Rare Diseases Neurological Research Institute Neuromed Via Atinense, 18-8607, Pozzilli (IS), Italy.

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http://dx.doi.org/10.2217/nmt.13.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883192PMC
June 2013

Wolf-Hirschhorn syndrome: a historical note and comment on an older adult.

Clin Dysmorphol 2013 Oct;22(4):149-51

aDepartment of Clinical Genetics bSheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000005DOI Listing
October 2013

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

J Med Genet 2013 Sep 28;50(9):606-13. Epub 2013 Jun 28.

Genetic Medicine Research Group, Faculty of Medical and Human Sciences, Institute of Human Development, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2013-101648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756527PMC
September 2013

Current Pharmacological Management in Juvenile Huntington's Disease.

PLoS Curr 2012 Feb 15;4:RRN1304. Epub 2012 Feb 15.

Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield UK S10 2TH; Neurogenetics and Rare Diseases Centre, IRCCS Neuromed, Pozzilli (IS), Italy.; University of Cambridge; Department of Clinical Neurophysiology, Institute of Psychiatry and Naurology, Warsaw, Poland and Dept. of Neurology, University of Ulm, Ulm, Germany.

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http://dx.doi.org/10.1371/currents.RRN1304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283037PMC
February 2012

A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome.

Am J Med Genet A 2012 May 21;158A(5):996-1004. Epub 2012 Mar 21.

Center for Human Genetics, KU Leuven, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.35299
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http://dx.doi.org/10.1002/ajmg.a.35299DOI Listing
May 2012

Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.

Hum Mutat 2010 Dec 16;31(12):1343-51. Epub 2010 Nov 16.

Centre for Human Genetics, University Hospital, Catholic University of Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.21368DOI Listing
December 2010

A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism.

Clin Dysmorphol 2010 Jan;19(1):23-7

North West London Regional Genetics Centre (Kennedy-Galton Centre), North West London Hospitals NHS Trust, Middlesex, HA1 3UJ, UK.

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https://insights.ovid.com/crossref?an=00019605-201001000-000
Publisher Site
http://dx.doi.org/10.1097/MCD.0b013e328334557eDOI Listing
January 2010

Seizure frequency in adults with Wolf-Hirschhorn syndrome.

Am J Med Genet A 2008 Oct;146A(19):2528-31

Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.

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http://dx.doi.org/10.1002/ajmg.a.32483DOI Listing
October 2008

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development.

Eur J Hum Genet 2008 Nov 4;16(11):1301-10. Epub 2008 Jun 4.

Department of Biological Sciences, University of Alberta, Edmonton, Alberta, Canada.

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http://dx.doi.org/10.1038/ejhg.2008.107DOI Listing
November 2008

Mosaic chromosome 6 trisomy in an epidermal nevus.

Pediatr Dermatol 2007 Mar-Apr;24(2):144-6

Skin Genetics Clinic, Sheffield Genetic Services, Sheffield Children's Hospital, Sheffield, UK.

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http://dx.doi.org/10.1111/j.1525-1470.2007.00362.xDOI Listing
July 2007

Prader-Willi and Klinefelter syndrome: a coincidence or not?

Clin Dysmorphol 2007 Apr;16(2):127-9

Department of Clinical Genetics, University Hospitals of Leicester, NHS Trust Leicester Royal Infirmary, Leicester, Leicestershire, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32801472cfDOI Listing
April 2007

Caring for a child with Juvenile Huntington's Disease: helpful and unhelpful support.

J Child Health Care 2007 Mar;11(1):40-52

Huntington's Disease Association, London and School of Psychology, Birkbeck College, London, UK.

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http://dx.doi.org/10.1177/1367493507073060DOI Listing
March 2007

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.

Eur J Hum Genet 2006 Jul 26;14(7):884-7. Epub 2006 Apr 26.

Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, South Yorkshire, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201633DOI Listing
July 2006

The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature.

Prenat Diagn 2006 Mar;26(3):267-72

Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.

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http://dx.doi.org/10.1002/pd.1394DOI Listing
March 2006

Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease?

Mech Ageing Dev 2006 Feb 7;127(2):208-12. Epub 2005 Nov 7.

Neurogenetics Unit, IRCCS Neuromed, Pozzilli, IS, Italy.

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http://dx.doi.org/10.1016/j.mad.2005.09.012DOI Listing
February 2006

Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.

J Clin Endocrinol Metab 2002 Jun;87(6):2688-93

Molecular Endocrinology Group, Nuffield Department of Clinical Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DU. UK.

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http://dx.doi.org/10.1210/jcem.87.6.8607DOI Listing
June 2002