Pradeep Vasudevan

Pradeep Vasudevan

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Pradeep Vasudevan

Pradeep Vasudevan

Publications by authors named "Pradeep Vasudevan"

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57Publications

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Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.

Arch Dis Child 2019 Sep 3. Epub 2019 Sep 3.

Genetic Medicine, Central Manchester University Hospitals Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1136/archdischild-2018-316547DOI Listing
September 2019

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

Retinal and optic nerve changes in microcephaly: An optical coherence tomography study.

Neurology 2018 08 11;91(6):e571-e585. Epub 2018 Jul 11.

From the Department of Ophthalmology (E.P., A.P., F.P., H.L., R.P., V.S., I.G.), Leicester Royal Infirmary, University of Leicester; and Department of Clinical Genetics (P.V.), University Hospitals of Leicester, Leicester Royal Infirmary, UK.

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http://dx.doi.org/10.1212/WNL.0000000000005950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105049PMC
August 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

A clinical approach to developmental delay and intellectual disability.

Clin Med (Lond) 2017 Dec;17(6):558-561

Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, UK.

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http://dx.doi.org/10.7861/clinmedicine.17-6-558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297696PMC
December 2017

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

Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation.

Endocrinol Diabetes Metab Case Rep 2017 7;2017. Epub 2017 Jun 7.

University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, CambridgeUK.

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http://dx.doi.org/10.1530/EDM-17-0040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467655PMC
June 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

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Mol Genet Genomic Med 2016 May 24;4(3):359-66. Epub 2016 Feb 24.

Division of Human GeneticsDepartment of PaediatricsInselspitalUniversity of BernCH-3010BernSwitzerland; Department of Clinical ResearchUniversity of BernCH-3010BernSwitzerland.

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http://dx.doi.org/10.1002/mgg3.209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867568PMC
May 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

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Recombinant Human Growth Hormone Therapy in Children with Chromosome 15q26 Deletion.

Horm Res Paediatr 2015 Apr 22. Epub 2015 Apr 22.

Department of Paediatric Endocrinology, Leicester Royal Infirmary, Leicester, UK.

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http://dx.doi.org/10.1159/000380949DOI Listing
April 2015

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Am J Hum Genet 2014 Nov 6;95(5):622-32. Epub 2014 Nov 6.

Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225581PMC
November 2014

Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension.

Am J Med Genet A 2014 Aug 21;164A(8):2121-3. Epub 2014 Apr 21.

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

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http://dx.doi.org/10.1002/ajmg.a.36568DOI Listing
August 2014

Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.

Clin Kidney J 2014 Jun 2;7(3):303-5. Epub 2014 Apr 2.

Department of Clinical Genetics , Leicester Royal Infirmary, University Hospitals of Leicester , Leicester , UK.

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http://dx.doi.org/10.1093/ckj/sfu028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377750PMC
June 2014

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

Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome.

Am J Med Genet A 2012 Apr 1;158A(4):713-9. Epub 2012 Mar 1.

NSW Centre for Rett Syndrome Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, NSW, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.34206
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http://dx.doi.org/10.1002/ajmg.a.34206DOI Listing
April 2012

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development.

Eur J Hum Genet 2008 Nov 4;16(11):1301-10. Epub 2008 Jun 4.

Department of Biological Sciences, University of Alberta, Edmonton, Alberta, Canada.

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http://dx.doi.org/10.1038/ejhg.2008.107DOI Listing
November 2008

Spore cortex formation in Bacillus subtilis is regulated by accumulation of peptidoglycan precursors under the control of sigma K.

Mol Microbiol 2007 Sep 21;65(6):1582-94. Epub 2007 Aug 21.

Department of Biological Sciences, Virginia Tech, 2119 Derring Hall MC0406, Blacksburg, VA 24061, USA.

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http://dx.doi.org/10.1111/j.1365-2958.2007.05896.xDOI Listing
September 2007

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

Role of the rpoS gene in the survival of Vibrio parahaemolyticus in artificial seawater and fish homogenate.

J Food Prot 2006 Jun;69(6):1438-42

Department of Animal Science, Unit-40, University of Connecticut, 3636 Horsebarn Hill Road Extension, Storrs, Connecticut 06269, USA.

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http://dx.doi.org/10.4315/0362-028x-69.6.1438DOI Listing
June 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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http://dx.doi.org/10.1097/01.mcd.0000115198.90437.02DOI Listing
July 2004

In vitro inactivation of Escherichia coli O157:H7 in bovine rumen fluid by caprylic acid.

J Food Prot 2004 May;67(5):884-8

Department of Animal Science, Unit 4040, University of Connecticut, Storrs, Connecticut 06269, USA.

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http://dx.doi.org/10.4315/0362-028x-67.5.884DOI Listing
May 2004

Phenotypic and genotypic characterization of bovine mastitis isolates of Staphylococcus aureus for biofilm formation.

Vet Microbiol 2003 Mar;92(1-2):179-85

Department of Animal Science, Unit-40, University of Connecticut, 3636 Horsebarn Hill Road Extension, Storrs, CT 06269, USA.

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http://dx.doi.org/10.1016/s0378-1135(02)00360-7DOI Listing
March 2003

Behavior of enteroaggregative Escherichia coli in bottled spring and mineral water.

J Food Prot 2003 Mar;66(3):497-500

Department of Animal Science, Unit-40, University of Connecticut, 3636 Horsebarn Hill Road Extension, Storrs, Connecticut 06269, USA.

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http://dx.doi.org/10.4315/0362-028x-66.3.497DOI Listing
March 2003