Publications by authors named "Angus Dobbie"

23Publications

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

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

Am J Med Genet A 2014 Apr 23;164A(4):907-14. Epub 2014 Jan 23.

Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.

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http://dx.doi.org/10.1002/ajmg.a.36368DOI Listing
April 2014

The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.

Hum Mutat 2014 Jan 28;35(1):86-95. Epub 2013 Oct 28.

Research Unit for Molecular Medicine, Aarhus University Hospital and Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

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http://dx.doi.org/10.1002/humu.22455DOI Listing
January 2014

Diaphragmatic hernia: a previously unreported association with Sotos syndrome.

Clin Dysmorphol 2012 Jul;21(3):177-8

Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, West Yorkshire, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328352213aDOI Listing
July 2012

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations.

Am J Med Genet A 2011 Nov 30;155A(11):2821-5. Epub 2011 Sep 30.

The Genetic Institute, Ha'Emek Medical Center, Afula and the Rappaport Faculty of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1002/ajmg.a.34251DOI Listing
November 2011

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.

J Physiol 2011 Apr 7;589(Pt 7):1681-9. Epub 2011 Feb 7.

The Tony Kriss Visual Electrophysiology Unit, Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital/University College London, London WC1 N3JH, UK.

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http://dx.doi.org/10.1113/jphysiol.2010.198531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3099023PMC
April 2011

Nemaline myopathy caused by absence of alpha-skeletal muscle actin.

Ann Neurol 2007 Feb;61(2):175-84

Centre for Medical Research, University of Western Australia, Nedlands, Australia, and Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, UK.

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http://dx.doi.org/10.1002/ana.21035DOI Listing
February 2007

Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome?

Clin Dysmorphol 2005 Jul;14(3):117-21

Department of Clinical Genetics, Sheffield Children's Hospital, Western Bank, Sheffield, S10 2TH, UK.

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http://dx.doi.org/10.1097/00019605-200507000-00002DOI Listing
July 2005

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

J Biol Chem 2004 May 24;279(21):22624-34. Epub 2004 Feb 24.

Nuffield Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford OX3 7LJ, United Kingdom.

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http://hmg.oxfordjournals.org/content/16/3/265.full.pdf
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http://www.jbc.org/lookup/doi/10.1074/jbc.M401797200
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http://dx.doi.org/10.1074/jbc.M401797200DOI Listing
May 2004

Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.

Am J Med Genet 2002 Feb;107(4):285-93

Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, Adelaide, Australia.

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https://www.gwern.net/docs/2002-baker.pdf
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http://dx.doi.org/10.1002/ajmg.10159DOI Listing
February 2002