Sofia Douzgou

Sofia Douzgou

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Sofia Douzgou

Sofia Douzgou

Publications by authors named "Sofia Douzgou"

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29Publications

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Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity.

Clin Dysmorphol 2019 Jul;28(3):131-136

Manchester Centre for Genomic Medicine.

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http://dx.doi.org/10.1097/MCD.0000000000000281DOI Listing
July 2019

PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 Jun 5. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
June 2019

A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature.

Clin Dysmorphol 2019 Apr;28(2):66-70

Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre.

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http://dx.doi.org/10.1097/MCD.0000000000000259DOI Listing
April 2019

The clinical presentation caused by truncating CHD8 variants.

Clin Genet 2019 Apr 18. Epub 2019 Apr 18.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.

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http://doi.wiley.com/10.1111/cge.13554
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http://dx.doi.org/10.1111/cge.13554DOI Listing
April 2019

A case of diencephalic syndrome presenting with isolated lipodystrophy.

Clin Dysmorphol 2018 Oct;27(4):122-125

Manchester Centre for Genomic Medicine, St Mary's Hospital.

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http://dx.doi.org/10.1097/MCD.0000000000000235DOI Listing
October 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.

Clin Dysmorphol 2017 Oct;26(4):247-251

aDepartment of Pediatrics, University Hospital of Hvidovre, Hvidovre, Denmark bManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre cSchool of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester dWellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://Insights.ovid.com/crossref?an=00019605-201710000-0001
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http://dx.doi.org/10.1097/MCD.0000000000000169DOI Listing
October 2017

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.

J Pediatr Genet 2017 Sep 12;6(3):129-141. Epub 2017 Apr 12.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Academic Health Sciences Centre, Manchester, United Kingdom.

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http://dx.doi.org/10.1055/s-0037-1601335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548525PMC
September 2017

Severe intellectual disability in a patient with Burn-McKeown syndrome.

Clin Dysmorphol 2017 Jul;26(3):193-194

aManchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals, NHS Foundation Trust Manchester Academic Health Sciences Centre bDivision of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK cThe Folkhaelsan Department of Medical Genetics dChildren's Hospital, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1097/MCD.0000000000000175DOI Listing
July 2017

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Ophthalmology 2017 07 22;124(7):985-991. Epub 2017 Mar 22.

Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Health Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1016/j.ophtha.2017.02.005DOI Listing
July 2017

Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

Am J Med Genet A 2017 Apr 3;173(4):1115-1118. Epub 2017 Mar 3.

Manchester Center for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, UK Manchester Academic Health Sciences Center, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.38131DOI Listing
April 2017

Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience.

Public Health Genomics 2016 9;19(1):19-24. Epub 2015 Oct 9.

Department of Economics, University of Piraeus, Piraeus, Greece.

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http://dx.doi.org/10.1159/000440710DOI Listing
August 2016

Severe constipation in a patient with Myhre syndrome: a case report.

Clin Dysmorphol 2016 Apr;25(2):54-7

aFaculty of Health and Medicine, Lancaster University, Lancaster bManchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000109DOI Listing
April 2016

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.

Eur J Med Genet 2013 Feb 5;56(2):108-13. Epub 2012 Dec 5.

Institute of Human Genetics, University Hospital Magdeburg, Leipziger Str. 44, 39120 Magdeburg, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212120030
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http://dx.doi.org/10.1016/j.ejmg.2012.11.001DOI Listing
February 2013

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies.

Arch Dis Child 2012 Sep 14;97(9):812-7. Epub 2012 Jul 14.

Clinical Fellow in Clinical Genetics, Central Manchester University Hospitals Foundation Trust, Manchester Academic Health Sciences Centre, Genetic Medicine, St Mary's Hospital, Oxford Rd, Manchester, UK.

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http://dx.doi.org/10.1136/archdischild-2012-302125DOI Listing
September 2012

Ophthalmic findings in the Greek isolate of Cohen syndrome.

Am J Med Genet A 2011 Mar 22;155A(3):534-9. Epub 2011 Feb 22.

Department of Genetics, Institute of Child Health, "Aghia Sofia" Children's Hospital, Athens, Greece.

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http://doi.wiley.com/10.1002/ajmg.a.33797
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http://dx.doi.org/10.1002/ajmg.a.33797DOI Listing
March 2011

Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview.

Clin Dysmorphol 2009 Oct;18(4):205-8

IRCCS-CSS, San Giovanni Rotondo and CSS-Mendel Institute, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1097/MCD.0b013e32832dc393DOI Listing
October 2009

Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.

Am J Med Genet A 2008 Aug;146A(16):2116-21

IRCCS-CSS San Giovanni Rotondo and CSS Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32435DOI Listing
August 2008

Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association.

Am J Med Genet A 2007 Feb;143A(3):277-84

IRCCS-C.S.S. San Giovanni Rotondo and C.S.S.-Mendel Institute, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.31591DOI Listing
February 2007