Publications by authors named "Emma L Wakeling"

23Publications

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.

Eur J Hum Genet 2018 09 11;26(9):1288-1293. Epub 2018 Jun 11.

North West Thames Regional Genetic Service, London North West Hospitals NHS Trust, Harrow, Middlesex, HA1 3UJ, UK.

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http://dx.doi.org/10.1038/s41431-018-0166-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117264PMC
September 2018

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations.

J Dermatol Sci 2011 Dec 27;64(3):159-62. Epub 2011 Aug 27.

Dermatology Department, The Royal Free Hospital, Pond Street, London NW3 2QG, UK.

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http://dx.doi.org/10.1016/j.jdermsci.2011.07.006DOI Listing
December 2011

Silver-Russell syndrome.

Authors:
Emma L Wakeling

Arch Dis Child 2011 Dec 24;96(12):1156-61. Epub 2011 Feb 24.

North West Thames Regional Genetic Service (Kennedy-Galton Centre), Level 8V, North West London Hospitals NHS Trust, Watford Rd, Harrow, Middlesex, HA1 3UJ, UK.

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http://dx.doi.org/10.1136/adc.2010.190165DOI Listing
December 2011

Epigenetic signatures of Silver-Russell syndrome.

J Med Genet 2010 Mar;47(3):150-4

Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1136/jmg.2009.071316DOI Listing
March 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
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http://dx.doi.org/10.1097/MCD.0b013e328334557eDOI Listing
January 2010

Congenital microgastria in association with Pierre-Robin sequence.

Clin Dysmorphol 2008 Apr;17(2):143-4

Department of Clinical Genetics, Kennedy Galton Centre, Northwick Park and St Mark's NHS Trust, Harrow, Middlesex, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3282f0a2beDOI Listing
April 2008

Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption.

Clin Dysmorphol 2007 Jan;16(1):39-41

North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Middlesex, Harrow, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328010b81cDOI Listing
January 2007

Mild case of Curry-Jones syndrome.

Clin Dysmorphol 2006 Apr;15(2):115-7

Clinical Genetics, Kennedy-Galton Centre, NW Thames Regional Genetics Service, Harrow, UK.

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http://dx.doi.org/10.1097/01.mcd.0000194406.85052.deDOI Listing
April 2006

Central osteosclerosis with trichothiodystrophy.

Pediatr Radiol 2004 Jul 18;34(7):541-6. Epub 2004 May 18.

North West Thames Regional Genetics Service, Kennedy-Galton Centre, Level 8 V, North West London Hospitals NHS Trust, Watford Road, Harrow HAI 3UJ, Middlesex, UK.

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http://dx.doi.org/10.1007/s00247-004-1207-7DOI Listing
July 2004

Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report.

Clin Dysmorphol 2003 Apr;12(2):105-7

North West Thames Regional Genetics Service, Kennedy-Galton Centre, Level 8 V, North West London Hospitals NHS Trust, Watford Road, Harrow, Middlesex HAl 3UJ, UK.

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http://dx.doi.org/10.1097/00019605-200304000-00006DOI Listing
April 2003

X-linked inheritance of Dandy-Walker variant.

Clin Dysmorphol 2002 Jan;11(1):15-8

Kennedy-Galton Centre, North West London Hospitals NHS Trust, Harrow, Middlesex, UK.

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http://dx.doi.org/10.1097/00019605-200201000-00003DOI Listing
January 2002