Louise Ocaka

Louise Ocaka

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Louise Ocaka

Louise Ocaka

Publications by authors named "Louise Ocaka"

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21Publications

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Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis.

J Clin Endocrinol Metab 2019 Jul 24. Epub 2019 Jul 24.

Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1210/jc.2019-00631DOI Listing
July 2019

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

J Inherit Metab Dis 2017 05 2;40(3):385-394. Epub 2017 Mar 2.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s10545-017-0025-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393281PMC
May 2017

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

PLoS Genet 2017 03 16;13(3):e1006679. Epub 2017 Mar 16.

Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1006679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373641PMC
March 2017

Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.

JIMD Rep 2016 8;27:79-84. Epub 2015 Oct 8.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London, UK, WC1N 1EH.

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http://dx.doi.org/10.1007/8904_2015_460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580730PMC
May 2016

The use of whole-exome sequencing to disentangle complex phenotypes.

Eur J Hum Genet 2016 Feb 10;24(2):298-301. Epub 2015 Jun 10.

Centre for Translational Omics - GOSgene, UCL Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717198PMC
February 2016

STAG3 truncating variant as the cause of primary ovarian insufficiency.

Eur J Hum Genet 2016 Jan 10;24(1):135-8. Epub 2015 Jun 10.

Reproductive Medicine Unit, Institute for Women's Health, University College London Hospitals, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795223PMC
January 2016

Author reply: To PMID 24480711.

Ophthalmology 2015 Apr;122(4):e22

Moorfields Eye Hospital, London, UK; University College London, Institute of Ophthalmology, Bath Street, London, UK.

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http://dx.doi.org/10.1016/j.ophtha.2014.08.041DOI Listing
April 2015

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.

J Med Genet 2014 Nov 5;51(11):748-55. Epub 2014 Sep 5.

Department of Gastroenterology, Great Ormond Street Hospital for Children, London, UK Katholic University Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1136/jmedgenet-2014-102624DOI Listing
November 2014

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

Ophthalmology 2014 Jun 28;121(6):1174-84. Epub 2014 Jan 28.

Moorfields Eye Hospital, London, United Kingdom; Institute of Ophthalmology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1016/j.ophtha.2013.11.042DOI Listing
June 2014

Isolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2.

Gene 2005 Aug;356:19-31

Institute of Ophthalmology, University College London, 11-43 Bath Street, London, EC1V 9EL, UK.

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http://dx.doi.org/10.1016/j.gene.2005.04.037DOI Listing
August 2005

Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.

Hum Genet 2002 May 10;110(5):513-4. Epub 2002 Apr 10.

Department of Molecular Genetics, Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK.

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http://dx.doi.org/10.1007/s00439-002-0711-9DOI Listing
May 2002