Frances Elmslie

Frances Elmslie

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Frances Elmslie

Frances Elmslie

Publications by authors named "Frances Elmslie"

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Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive Hydrocephalus.

World Neurosurg 2019 05 19;125:271-272. Epub 2019 Feb 19.

Atkinson Morley Neurosurgery Centre, St. George's University Hospital NHS Foundation Trust, London, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S18788750193040
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http://dx.doi.org/10.1016/j.wneu.2019.02.008DOI Listing
May 2019

GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging.

Eur J Paediatr Neurol 2018 Nov 9;22(6):1161-1164. Epub 2018 Feb 9.

Department of Paediatric Neurosciences, St George's University Hospitals NHS Foundation Trust, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798173177
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http://dx.doi.org/10.1016/j.ejpn.2018.02.002DOI Listing
November 2018

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.

Mol Genet Genomic Med 2016 Jul 3;4(4):465-74. Epub 2016 Apr 3.

Centre for Genomic & Experimental MedicineMRC Institute of Genetics and Molecular MedicineUniversity of EdinburghWestern General HospitalCrewe RoadEdinburghEH4 2XUUK; Muir Maxwell Epilepsy CentreUniversity of Edinburgh20 Sylvan PlaceEdinburghEH9 1UWUK.

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http://dx.doi.org/10.1002/mgg3.219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947865PMC
July 2016

Delineation of the movement disorders associated with FOXG1 mutations.

Neurology 2016 05 30;86(19):1794-800. Epub 2016 Mar 30.

From Molecular Neurosciences (A.P., J.N., E.M., A.M., A.N., S.S.M., B.P.-D., M.A.K.), Developmental Neurosciences Programme, University College London-Institute of Child Health; Departments of Neurology (A.P., C.H., R.R., S.M.V., M.A.K.) and Neuroradiology (K.M.), Department of Molecular Genetics, North East Thames Regional Genetics Services (N.T., L.J.), and Department of Clinical Genetics (R.H.S., J.A.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Department of Neurology (R.B.S., E.F.A., A.R.P.), Center for Human Experimental Therapeutics (E.F.A.), and Departments of Pediatrics and Biomedical Genetics (A.R.P.), University of Rochester Medical Center, NY; Gene Transfer Technology Group (J.N.), UCL-Institute for Women's Health, London; Departments of Paediatric Neurology (M.K., V.S.) and Paediatrics (M.C.O.), Chelsea and Westminster NHS Foundation Trust, London; Department of Perinatal Neurology (S.N.B.), Hammersmith Hospital, London, UK; Institute for Neuroscience and Muscle Research (R.I.W.), Department of Neurology (R.I.W.), and Neuroimmunology Group, Institute for Neuroscience and Muscle Research (S.S.M.), The Children's Hospital at Westmead, Sydney, Australia; Child Development Centre (S.P., M.M.) and South West Thames Regional Genetics Service (F.E.), St George's University Hospitals NHS Foundation Trust, London, UK; and Department of Child Neurology (B.P.-D.) and Centre for Biomedical Research in Rare Diseases (CIBERER-ISCIII) (B.P.-D.), Hospital Sant Joan de Déu, Universitat de Barcelona, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000002585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862244PMC
May 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

De novo mutations in MLL cause Wiedemann-Steiner syndrome.

Am J Hum Genet 2012 Aug 12;91(2):358-64. Epub 2012 Jul 12.

South West Thames Regional Genetics Service, St George's Hospital, University of London, London SW17 0RE, UK.

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http://dx.doi.org/10.1016/j.ajhg.2012.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415539PMC
August 2012

A new Nav1.7 sodium channel mutation I234T in a child with severe pain.

Eur J Pain 2010 Oct 10;14(9):944-50. Epub 2010 Apr 10.

Department of Neurology, Yale University School of Medicine, New Haven, CT 06510, USA.

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http://doi.wiley.com/10.1016/j.ejpain.2010.03.007
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http://dx.doi.org/10.1016/j.ejpain.2010.03.007DOI Listing
October 2010

A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+.

Epilepsia 2009 Apr 19;50(4):937-42. Epub 2008 Nov 19.

Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London, United Kingdom.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01876.xDOI Listing
April 2009

'Over-the-counter' genetic testing: what does it really mean for primary care?

Br J Gen Pract 2009 Apr;59(561):283-7

St George's, University of London, Department of Community Health Sciences (General Practice), Cranmer Terrace, London SW17 0RE.

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http://dx.doi.org/10.3399/bjgp09X395021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2662103PMC
April 2009

SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

Neuron 2006 Dec;52(5):767-74

Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, 5 University Street, London WC1E 6JJ, United Kingdom.

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http://linkinghub.elsevier.com/retrieve/pii/S089662730600805
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http://dx.doi.org/10.1016/j.neuron.2006.10.006DOI Listing
December 2006

The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits.

Neurobiol Dis 2005 Dec 17;20(3):799-804. Epub 2005 Jun 17.

Department of Neurosciences, Medical Faculty, CMU, 1211 Geneva 4, Switzerland.

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http://linkinghub.elsevier.com/retrieve/pii/S096999610500150
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http://dx.doi.org/10.1016/j.nbd.2005.05.013DOI Listing
December 2005

Molecular and phenotypic characterization of ring chromosome 22.

Am J Med Genet A 2005 Aug;137(2):139-47

Department of Neuroscience, Institute of Psychiatry, Denmark Hill, London SE5 8AF, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.30780DOI Listing
August 2005

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

A new neocentromere locus on chromosome 13 resulting in mosaic tetrasomy for distal 13q and an asymmetric phenotype.

Am J Med Genet A 2004 Oct;130A(3):295-8

Genetics Centre, Guy's and St. Thomas' Hospital Trust, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.30208DOI Listing
October 2004