Pradeep C Vasudevan

Pradeep C Vasudevan

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Pradeep C Vasudevan

Pradeep C Vasudevan

Publications by authors named "Pradeep C Vasudevan"

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Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].

Epilepsy Res 2018 11 10;147:121. Epub 2018 Aug 10.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia; Department of Paediatrics, The University of Melbourne, 50 Flemington Road, Parkville, Victoria, 3052, Australia; Department of Neurology, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia; The Florey Institute of Neuroscience and Mental Health, 245 Burgundy St., Heidelberg, Victoria, 3084, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2018.07.019DOI Listing
November 2018

Response.

Clin Med (Lond) 2018 03;18(2):192

Nottingham University Hospitals NHS Trust, Nottingham, UK.

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http://dx.doi.org/10.7861/clinmedicine.18-2-192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303452PMC
March 2018

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.

Epilepsy Res 2018 02 3;140:166-170. Epub 2018 Feb 3.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia; Department of Paediatrics, The University of Melbourne, 50 Flemington Road, Parkville, Victoria, 3052, Australia; Department of Neurology, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia; The Florey Institute of Neuroscience and Mental Health, 245 Burgundy St., Heidelberg, Victoria, 3084, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2018.01.014DOI Listing
February 2018

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

Am J Med Genet A 2017 Nov 25;173(11):3003-3012. Epub 2017 Sep 25.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1002/ajmg.a.38492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555908PMC
November 2017

Renal anomalies and lymphedema distichiasis syndrome. A rare association?

Am J Med Genet A 2017 Aug 23;173(8):2251-2256. Epub 2017 May 23.

Department of Clinical Genetics, University Hospitals Leicester NHS Trust, Leicester, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.38293DOI Listing
August 2017

14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability.

Ophthalmic Genet 2016 09 9;37(3):352-3. Epub 2016 Feb 9.

a Clinical Genetics Department , University Hospitals Leicester NHS Trust , Leicester , UK.

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http://dx.doi.org/10.3109/13816810.2015.1059463DOI Listing
September 2016

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.

Am J Med Genet A 2016 Mar 5;170(3):754-9. Epub 2016 Jan 5.

Clinical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

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http://doi.wiley.com/10.1002/ajmg.a.37511
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http://dx.doi.org/10.1002/ajmg.a.37511DOI Listing
March 2016

Is 15q11.2 microdeletion associated with periventricular nodular heterotopia?

Clin Dysmorphol 2015 Oct;24(4):156-8

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

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http://dx.doi.org/10.1097/MCD.0000000000000095DOI Listing
October 2015

Status epilepsy in CCM with KRIT1 gene change.

Eur J Paediatr Neurol 2014 Mar 31;18(2):241-2. Epub 2013 Oct 31.

University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester LE1 5WW, United Kingdom.

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http://dx.doi.org/10.1016/j.ejpn.2013.10.001DOI Listing
March 2014

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

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

Monosomy 5p and trisomy 12p in a boy with familial balanced translocation.

Clin Dysmorphol 2006 Apr;15(2):85-7

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

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https://insights.ovid.com/crossref?an=00019605-200604000-000
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http://dx.doi.org/10.1097/01.mcd.0000184971.69033.27DOI Listing
April 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

A case of Fryns syndrome without diaphragmatic hernia and review of the literature.

Clin Dysmorphol 2004 Jul;13(3):179-82

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

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July 2004