A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 31313512

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 30905399

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 29691892

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 29024177

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 29021403

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 28546572

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 28229249

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 28092684

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 27992417

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 27749956

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 27667800

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 27399968

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 26940150

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 26842493

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 26437029

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 26333682

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 25975230

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 25873011

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 25683120

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 25572454

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 25466363

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 24524299

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 24497998

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 24193343

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 24091799

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 23345203

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 23269600

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 22717651

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 22258522

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 21946467

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 21594990

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 21267005

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 19012340

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 19006240

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 18412115

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 16982979

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 16957474

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 15578620

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 14733593

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

A PHP Error was encountered

Severity: Notice

Message: Undefined offset: 12687672

Filename: controllers/Author.php

Line Number: 1528

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 1528
Function: _error_handler

File: /var/www/html/application/controllers/Author.php
Line: 1306
Function: pubMedSearchtoAuthorResults_array

File: /var/www/html/application/controllers/Author.php
Line: 336
Function: pubMedAuthorSearch_array

File: /var/www/html/index.php
Line: 322
Function: require_once

Publications Authored by Nicola Foulds | PubFacts
Nicola Foulds

Nicola Foulds

UNVERIFIED PROFILE

Are you Nicola Foulds?   Register this Author

Register author
Nicola Foulds

Nicola Foulds

Publications by authors named "Nicola Foulds"

Are you Nicola Foulds?   Register this Author

40Publications

1553Reads

10Profile Views

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
https://insights.ovid.com/crossref?an=00124743-201110000-000
Publisher Site
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.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33897
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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