Publications by authors named "Anand Saggar"

30Publications

A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.

Brain Dev 2017 Mar 25;39(3):271-274. Epub 2016 Oct 25.

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2016.09.012DOI Listing
March 2017

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.

Eur J Paediatr Neurol 2016 May 11;20(3):483-8. Epub 2016 Jan 11.

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, 369 Fulham Road, London, SW10 9NH, United Kingdom; The Portland Hospital for Women and Children, 205-209 Great Portland St, London, W1W 5AH, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.12.016DOI Listing
May 2016

Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype.

Quant Imaging Med Surg 2015 Jun;5(3):476-9

1 Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK ; 2 BUPA Cromwell Hospital, London, UK ; 3 St Mary's Hospital, Imperial College NHS trust, London, UK ; 4 St George's Hospital, NHS Foundation Trust, London, UK ; 5 Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK ; 6 King's College Hospital, NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.3978/j.issn.2223-4292.2014.11.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426115PMC
June 2015

Zellweger syndrome and secondary mitochondrial myopathy.

Eur J Pediatr 2015 Apr 7;174(4):557-63. Epub 2014 Oct 7.

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK,

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http://dx.doi.org/10.1007/s00431-014-2431-2DOI Listing
April 2015

Severe arterial tortuosity in an asymptomatic infant with coarctation.

Circ Cardiovasc Imaging 2013 May;6(3):487-90

Department of Congenital Heart Surgery, Royal Brompton Hospital, London, UK.

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http://dx.doi.org/10.1161/CIRCIMAGING.112.000102DOI Listing
May 2013

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

Ocular treatment of children with Stuve-Wiedemann syndrome.

Cornea 2012 Mar;31(3):269-72

The Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.

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http://dx.doi.org/10.1097/ICO.0b013e3182182089DOI Listing
March 2012

Multidisciplinary surgical management of cherubism complicated by neurofibromatosis type 1.

J Craniofac Surg 2011 Nov;22(6):2318-22

Craniofacial Orbito Palpebral Service, Chelsea & Westminster Hospital, London, UK.

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http://dx.doi.org/10.1097/SCS.0b013e318232a779DOI Listing
November 2011

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.

Hum Mutat 2010 Aug;31(8):E1622-31

Sonalee Laboratory, Cardiac & Vascular Sciences, St George's University of London, SW17 0RE, UK.

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http://dx.doi.org/10.1002/humu.21305DOI Listing
August 2010

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Am J Hum Genet 2009 Sep;85(3):414-8

Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ajhg.2009.08.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771533PMC
September 2009