Dian Donnai

Dian Donnai

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Dian Donnai

Dian Donnai

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Dysmorphology and the ESHG.

Authors:
Dian Donnai

Eur J Hum Genet 2017 12;25(s2):S33-S34

Manchester Centre for Genomic Medicine, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2017.161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763268PMC
December 2017

Mutation of TBCK causes a rare recessive developmental disorder.

Neurol Genet 2016 Jun 24;2(3):e76. Epub 2016 May 24.

Department of Molecular Neuroscience (R.J.G., J.B.), Institute of Neurology; MRC Laboratory for Molecular Cell Biology (R.B., S.E.M.), University College London; Manchester Centre for Genomic Medicine (D.D.), University of Manchester and Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust; Royal Preston Hospital (C.d.G.), Genetics and Genomics Medicine Programme (S.E.M.), UCL Institute of Child Health and Department of Genetics, Evolution and Environment, University College London, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881620PMC
June 2016

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Eur J Med Genet 2015 Sep 20;58(9):455-65. Epub 2015 Jul 20.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.07.003DOI Listing
September 2015

Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.

Ann Rheum Dis 2015 Jun 17;74(6):1249-56. Epub 2014 Jan 17.

Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK.

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http://dx.doi.org/10.1136/annrheumdis-2013-204309DOI Listing
June 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

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

What can be offered to couples at (possibly) increased genetic risk?

J Community Genet 2012 Jul 4;3(3):167-74. Epub 2012 Jul 4.

Department of Genetic Medicine, St Mary's Hospital, Manchester, M13 0JH, UK,

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http://dx.doi.org/10.1007/s12687-012-0105-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3419288PMC
July 2012

Pierpont syndrome: a collaborative study.

Am J Med Genet A 2011 Sep 10;155A(9):2203-11. Epub 2011 Aug 10.

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.34147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495254PMC
September 2011

Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

Eur J Hum Genet 2011 Jan 18;19(1):18-22. Epub 2010 Aug 18.

Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2010.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039503PMC
January 2011

Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome.

Clin Dysmorphol 2011 Jan;20(1):15-20

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32833e8f1eDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3000393PMC
January 2011

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.

Eur J Hum Genet 2010 Oct 19;18(10):1095-9. Epub 2010 May 19.

Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1038/ejhg.2010.41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987451PMC
October 2010

Advances in dysmorphology: from diagnosis to treatment.

Authors:
Dian Donnai

Clin Med (Lond) 2009 Apr;9(2):154-5

University of Manchester and Central Manchester Foundation Hospitals NHS Trust.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4952670PMC
http://dx.doi.org/10.7861/clinmedicine.9-2-154DOI Listing
April 2009

What process attributes of clinical genetics services could maximise patient benefits?

Eur J Hum Genet 2008 Dec 2;16(12):1467-76. Epub 2008 Jul 2.

The Nowgen Centre for Genetics in Healthcare, Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2008.121DOI Listing
December 2008

Patient empowerment in clinical genetics services.

J Health Psychol 2008 Oct;13(7):895-905

Nowgen, Manchester, UK.

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http://dx.doi.org/10.1177/1359105308095063DOI Listing
October 2008

Complementation in a 45,X/47,XX,+14 patient?

Clin Dysmorphol 2008 Oct;17(4):291

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http://dx.doi.org/10.1097/MCD.0b013e328317a3a7DOI Listing
October 2008

Nowgen, A Center for Genetics in Healthcare.

Per Med 2008 Sep;5(5):435-439

The Nowgen Center, 29 Grafton St, Manchester, M13 9WU , UK. ; www.nowgen.org.uk.

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http://dx.doi.org/10.2217/17410541.5.5.435DOI Listing
September 2008

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

Hum Mutat 2008 Aug;29(8):1017-27

Academic Unit of Medical Genetics and Regional Genetics Service, University of Manchester, St Mary's Hospital, Manchester, United Kingdom.

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http://dx.doi.org/10.1002/humu.20741DOI Listing
August 2008

A familial dysmorphic condition with hypotonia, seizures and precocious puberty.

Clin Dysmorphol 2008 Jul;17(3):161-4

Academic Unit of Medical Genetics and Regional Genetic Service, University of Manchester, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328302f0c4DOI Listing
July 2008

Outcome measurement in clinical genetics services: a systematic review of validated measures.

Value Health 2008 May-Jun;11(3):497-508

Nowgen, The North West Genetics Knowledge Park, Manchester, UK.

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http://dx.doi.org/10.1111/j.1524-4733.2007.00259.xDOI Listing
June 2008

Is the UK public ready for genetic medicine?

Per Med 2008 Jan;5(1):65-76

The Nowgen Centre, Nowgen, A Centre for Genetics in Healthcare, 29 Grafton St, Manchester, M13 9WU, UK.

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http://dx.doi.org/10.2217/17410541.5.1.65DOI Listing
January 2008

Outcome measures for clinical genetics services: a comparison of genetics healthcare professionals and patients' views.

Health Policy 2007 Nov 7;84(1):112-22. Epub 2007 May 7.

The North West Genetics Knowledge Park (NOWGEN), Manchester, UK.

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http://dx.doi.org/10.1016/j.healthpol.2007.03.005DOI Listing
November 2007

The emotional effects of genetic diseases: implications for clinical genetics.

Am J Med Genet A 2007 Nov;143A(22):2651-61

Nowgen, The North West Genetics Knowledge Park, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.32013DOI Listing
November 2007

Dysmorphology demystified.

Arch Dis Child Fetal Neonatal Ed 2007 May;92(3):F225-9

National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin 12.

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http://dx.doi.org/10.1136/adc.2006.110619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2675338PMC
May 2007

GTF2IRD1 in craniofacial development of humans and mice.

Science 2005 Nov 3;310(5751):1184-7. Epub 2005 Nov 3.

Academic Unit of Medical Genetics, University of Manchester, St. Mary's Hospital, Manchester M13 9PL, UK.

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http://dx.doi.org/10.1126/science.1116142DOI Listing
November 2005

Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.

Clin Dysmorphol 2005 Apr;14(2):61-5

Academic Unit of Medical Genetics and Regional Genetics Service, The University of Manchester, St Mary's Hospital, Manchester, UK.

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April 2005

Symptomatic Chiari I malformation in Kabuki syndrome.

Am J Med Genet A 2005 Jan;132A(3):273-5

Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.30387DOI Listing
January 2005

Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.

Eur J Hum Genet 2004 Jul;12(7):551-60

University of Manchester, Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201174DOI Listing
July 2004

Professor Robin Michael Winter 1950-2004: An appreciation.

Authors:
Dian Donnai

Am J Med Genet A 2004 Jul;128A(2):107-9

Academic Unit of Medical Genetics and Regional Genetics Service, St. Mary's Hospital, Manchester, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.30131DOI Listing
July 2004

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

Nat Genet 2004 Apr 7;36(4):411-6. Epub 2004 Mar 7.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/ng1321DOI Listing
April 2004

How clinicians add to knowledge of development.

Lancet 2003 Aug;362(9382):477-84

University of Manchester, Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, M13 0JH, Manchester, UK.

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http://dx.doi.org/10.1016/S0140-6736(03)14076-7DOI Listing
August 2003

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.

Hum Genet 2002 Oct 7;111(4-5):368-75. Epub 2002 Sep 7.

Ottawa Health Research Institute, 501 Smyth Road, Rm. 4G-101, Ottawa, Ontario, Canada, K1H 8L6.

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http://dx.doi.org/10.1007/s00439-002-0815-2DOI Listing
October 2002

Phenotypic spectrum of interstitial 7p duplication in mosaic and non-mosaic forms.

Am J Med Genet 2002 May;109(4):306-10

Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.10368DOI Listing
May 2002

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.

Hum Genet 2002 May 10;110(5):422-8. Epub 2002 Apr 10.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1852, Building 10 Room 10C103, Bethesda, MD 20892-1852, USA.

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http://dx.doi.org/10.1007/s00439-002-0709-3DOI Listing
May 2002

Sotos syndrome: two cases with severe scoliosis.

Clin Dysmorphol 2002 Apr;11(2):121-4

Merseyside and Cheshire Clinical Genetic Service, Royal Liverpool Children's Hospital, Liverpool, UK.

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April 2002