Publications by authors named "Nicola Foulds"

44Publications

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Am J Hum Genet 2020 06 21;106(6):830-845. Epub 2020 May 21.

Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273536PMC
June 2020

Diagnosis of pyridoxine-dependent epilepsy in an adult presenting with recurrent status epilepticus.

Epilepsia 2020 01 17;61(1):e1-e6. Epub 2019 Dec 17.

Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1111/epi.16408DOI Listing
January 2020

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

Neurogenetics 2017 Apr 22;18(2):111-117. Epub 2017 Feb 22.

Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Level G, Mailpoint 627, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK.

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http://dx.doi.org/10.1007/s10048-017-0510-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359383PMC
April 2017

Further defining the phenotypic spectrum of B4GALT7 mutations.

Am J Med Genet A 2016 06 4;170(6):1556-63. Epub 2016 Mar 4.

Wessex Clinical Genetics Service, University Hospitals Southampton NHS Foundation Trust, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37604DOI Listing
June 2016

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition.

Am J Med Genet A 2015 Dec 3;167A(12):3153-60. Epub 2015 Sep 3.

Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, Hampshire, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37336DOI Listing
December 2015

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.

Sci Rep 2015 May 15;5:10042. Epub 2015 May 15.

Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, UK. Wessex Neurological Centre, University Hospital Southampton NHS Foundation Trust, UK.

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http://dx.doi.org/10.1038/srep10042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432561PMC
May 2015

Association of mutations in FLNA with craniosynostosis.

Eur J Hum Genet 2015 Dec 15;23(12):1684-8. Epub 2015 Apr 15.

Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1038/ejhg.2015.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519681PMC
December 2015

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

Am J Med Genet A 2015 Mar 8;167A(3):504-11. Epub 2015 Jan 8.

Unité de Génétique Médicale et Oncogénétique, Centre Hospitalier Universitaire Amiens Picardie, Amiens, France; Laboratoire de Cytogénétique et Biologie de la Reproduction, Centre Hospitalier Universitaire Amiens Picardie, Amiens, France.

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http://dx.doi.org/10.1002/ajmg.a.36882DOI Listing
March 2015

RYR1-related malignant hyperthermia with marked cerebellar involvement - a paradigm of heat-induced CNS injury?

Neuromuscul Disord 2015 Feb 31;25(2):138-40. Epub 2014 Oct 31.

Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London, UK; Department of Clinical and Basic Neuroscience, IoPPN, King's College, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.10.008DOI Listing
February 2015

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.

PLoS One 2014 31;9(1):e86940. Epub 2014 Jan 31.

Department of Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0086940PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908952PMC
October 2014

Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not.

Genet Med 2013 Nov 3;15(11):896-9. Epub 2013 Oct 3.

1] Clinical Ethics and Law at Southampton (CELS), Faculty of Medicine, University of Southampton, Southampton, UK [2] Wessex Clinical Genetics Service, The Princess Anne Hospital, Southampton, UK.

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http://dx.doi.org/10.1038/gim.2013.165DOI Listing
November 2013

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.

Am J Med Genet A 2013 Mar 23;161A(3):487-500. Epub 2013 Jan 23.

Faculty of Medicine, Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK.

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http://dx.doi.org/10.1002/ajmg.a.35767DOI Listing
March 2013

Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia.

J Med Genet 2012 Jul 20;49(7):437-41. Epub 2012 Jun 20.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2012-100825DOI Listing
July 2012

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.

Eur J Hum Genet 2012 Jun 18;20(6):705-8. Epub 2012 Jan 18.

Institut für Medizinische Genetik und Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1038/ejhg.2011.264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355260PMC
June 2012

Hemorrhagic bullae of the oral mucosa as an early manifestation of vascular-type ehlers-danlos syndrome.

J Clin Rheumatol 2011 Oct;17(7):383-4

Department of Rheumatology, Southampton General Hospital, Southampton, Yeovil, UK.

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https://insights.ovid.com/crossref?an=00124743-201110000-000
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http://dx.doi.org/10.1097/RHU.0b013e31823266a7DOI Listing
October 2011

Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?

Am J Med Genet A 2011 Apr 15;155A(4):667-72. Epub 2011 Mar 15.

Salisbury District Hospital, Salisbury, Wiltshire, UK.

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http://doi.wiley.com/10.1002/ajmg.a.33897
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http://dx.doi.org/10.1002/ajmg.a.33897DOI Listing
April 2011

A novel 2.43 Mb deletion of 7q11.22-q11.23.

Am J Med Genet A 2008 Dec;146A(24):3206-10

Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.

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http://dx.doi.org/10.1002/ajmg.a.32584DOI Listing
December 2008

Severe Marfan syndrome due to FBN1 exon deletions.

Am J Med Genet A 2008 May;146A(10):1320-4

Wessex Clinical Genetics Service, Southampton, UK.

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http://dx.doi.org/10.1002/ajmg.a.32229DOI Listing
May 2008

Antenatal carbimazole and choanal atresia: a new embryopathy.

Arch Otolaryngol Head Neck Surg 2006 Sep;132(9):1009-11

Department of Otolaryngology, St George's Hospital, Tooting, London, and Department of Genetics, Southampton University Hospital, Southampton, England.

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http://dx.doi.org/10.1001/archotol.132.9.1009DOI Listing
September 2006

Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome.

Clin Dysmorphol 2006 Oct;15(4):211-2

Wessex Clinical Genetics Service, G Level, Mailpoint 105, Princess Anne Hospital, Coxford Road, Southampton, UK.

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http://dx.doi.org/10.1097/01.mcd.0000204986.54366.7cDOI Listing
October 2006

Carbimazole embryopathy: an emerging phenotype.

Am J Med Genet A 2005 Jan;132A(2):130-5

SW Thames Regional Genetics Services, St. George's Hospital, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.30418DOI Listing
January 2005

Synthesis, characterization, and evaluation of ferrocene-theophylline conjugates for use in electrochemical enzyme immunoassay.

Bioconjug Chem 2004 Jan-Feb;15(1):137-44

MediSense (UK) Ltd., Abbott Laboratories, 14/15 Eyston Way, Abingdon, Oxon OX14 1TR, UK.

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http://dx.doi.org/10.1021/bc034131bDOI Listing
March 2004

A female case of Sedaghatian type spondylometaphyseal dysplasia.

Am J Med Genet A 2003 May;118A(4):377-81

Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.10199DOI Listing
May 2003