Dragana Josifova

Dragana Josifova

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Dragana Josifova

Dragana Josifova

Publications by authors named "Dragana Josifova"

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28Publications

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Inherited 2q23.1 microdeletions involving the locus.

Mol Genet Genomic Med 2017 Sep 8;5(5):608-613. Epub 2017 Aug 8.

North East Thames Regional Genetics ServiceGreat Ormond Street HospitalLondonWC1N 3JHUK.

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http://dx.doi.org/10.1002/mgg3.316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606852PMC
September 2017

Genetics of gynaecological disorders.

Best Pract Res Clin Obstet Gynaecol 2017 Jul 10;42:100-113. Epub 2017 May 10.

Guy's and St. Thomas NHS Trust, Clinical Genetics Department, Great Maze Pond, London, SE1 9RT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.bpobgyn.2017.05.001DOI Listing
July 2017

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.

J Med Genet 2016 08 12;53(8):536-47. Epub 2016 Apr 12.

Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK Adult Autism Spectrum and ADHD Services, Behavioural and Developmental Psychiatry, Clinical Academic Group, King's Health Partners, London, UK National Institute for Health Research (NIHR) Biomedical Research Centre for Mental Health at South London and Maudsley NHS Foundation Trust and Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103621DOI Listing
August 2016

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.

Neuromuscul Disord 2013 May 18;23(5):391-8. Epub 2013 Mar 18.

Department of Paediatric Neurology-Neuromuscular Service, Evelina Children's Hospital, Guy's & St. Thomas' NHS Foundation Trust, UK.

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http://dx.doi.org/10.1016/j.nmd.2013.02.001DOI Listing
May 2013

Structural pituitary abnormalities associated with CHARGE syndrome.

J Clin Endocrinol Metab 2013 Apr 22;98(4):E737-43. Epub 2013 Mar 22.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1210/jc.2012-3467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708033PMC
April 2013

Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene.

Pediatr Neurol 2011 Nov;45(5):328-30

Department of Clinical Genetics, Guy's Hospital, London, United Kingdom.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.08.002DOI Listing
November 2011

Gene symbol: ALMS1.

Hum Genet 2007 Apr;121(2):297

DNA Laboratory, Clinical Genetics Department, St James's University Hospital, Beckett Street, Leeds, LS9 7TF, UK.

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April 2007

Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement.

Clin Dysmorphol 2004 Jul;13(3):151-3

Department of Clinical Genetics, St. George's Hospital Medical School, Cranmer Terrace, London, UK.

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http://dx.doi.org/10.1097/01.mcd.0000126138.37196.26DOI Listing
July 2004