Stephen Abbs

Stephen Abbs

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Stephen Abbs

Stephen Abbs

Publications by authors named "Stephen Abbs"

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Renal anomalies and lymphedema distichiasis syndrome. A rare association?

Am J Med Genet A 2017 Aug 23;173(8):2251-2256. Epub 2017 May 23.

Department of Clinical Genetics, University Hospitals Leicester NHS Trust, Leicester, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.38293DOI Listing
August 2017

Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

Am J Med Genet A 2017 Jul 12;173(7):1931-1935. Epub 2017 May 12.

Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

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http://dx.doi.org/10.1002/ajmg.a.38261DOI Listing
July 2017

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.

Am J Med Genet A 2016 06 21;170(6):1608-12. Epub 2016 Mar 21.

Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37631DOI Listing
June 2016

Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.

J Neuropathol Exp Neurol 2015 Apr;74(4):288-92

From the East Anglian Medical Genetics Service (AT, ID, JT, SA, MT), Department of Histopathology (KA), and Molecular Malignancy Laboratory (HL), Addenbrooke's Hospital; and Department of Medical Genetics and National Institute for Health Research Cambridge Biomedical Research Center, University of Cambridge (MT), Cambridge, United Kingdom.

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http://dx.doi.org/10.1097/NEN.0000000000000178DOI Listing
April 2015

Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.

Int J Endocrinol 2015 25;2015:138573. Epub 2015 Mar 25.

Department of Medical Genetics, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK ; Cambridge NIHR Biomedical Research Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK ; Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1155/2015/138573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390106PMC
April 2015

Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy.

BMC Nephrol 2014 May 9;15:76. Epub 2014 May 9.

Department of Paediatric Nephrology, University of Bristol, Bristol Royal Hospital for Children, Bristol BS2 8BJ, UK.

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http://dx.doi.org/10.1186/1471-2369-15-76DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4036736PMC
May 2014

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

J Am Soc Nephrol 2013 Dec 19;24(12):1945-54. Epub 2013 Sep 19.

DNA Laboratory, GSTS Pathology, Guy's & St Thomas' Hospital Foundation Trust, London, United Kingdom;

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http://dx.doi.org/10.1681/ASN.2012100985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3839543PMC
December 2013

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

Clinical utility gene card for: Central core disease.

Eur J Hum Genet 2012 Feb 12;20(2). Epub 2011 Oct 12.

GSTS Pathology, Guy's Hospital, Great Maze Pond, London, UK.

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http://www.nature.com/articles/ejhg2011179
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http://dx.doi.org/10.1038/ejhg.2011.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260933PMC
February 2012

Molecular genetics external quality assessment pilot scheme for KRAS analysis in metastatic colorectal cancer.

Genet Test Mol Biomarkers 2011 Nov 18;15(11):777-83. Epub 2011 Aug 18.

UK NEQAS for Molecular Genetics, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, United Kingdom.

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http://www.liebertpub.com/doi/10.1089/gtmb.2010.0239
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http://dx.doi.org/10.1089/gtmb.2010.0239DOI Listing
November 2011

X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.

Am J Med Genet A 2011 Oct 9;155A(10):2370-80. Epub 2011 Sep 9.

Molecular Genetics Laboratory, GSTS Pathology, Guy's Hospital, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.33913DOI Listing
October 2011

Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.

Muscle Nerve 2011 Sep;44(3):388-92

Dubowitz Neuromuscular Centre, Institute of Child Health, University College, 30 Guilford Street, London WC1N 1EH, UK.

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http://dx.doi.org/10.1002/mus.22068DOI Listing
September 2011

King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Neuromuscul Disord 2011 Jun 22;21(6):420-7. Epub 2011 Apr 22.

Division of Pediatric Neurology, Pediatric Neuromuscular Clinic, 5328 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1016/j.nmd.2011.03.006DOI Listing
June 2011

Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

Arch Neurol 2010 Apr;67(4):497-500

Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology, and National Hospital for Neurology and Neurosurgery, London, England.

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http://dx.doi.org/10.1001/archneurol.2010.58DOI Listing
April 2010

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.

Neuromuscul Disord 2010 Jan 22;20(1):49-52. Epub 2009 Nov 22.

Clinical Neuroscience Division, King's College, London, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660900658
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http://dx.doi.org/10.1016/j.nmd.2009.10.005DOI Listing
January 2010

Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.

Eur J Hum Genet 2008 Jan 29;16(1):53-61. Epub 2007 Aug 29.

DNA Laboratory, Genetics Centre, Guy's & St Thomas' NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201916DOI Listing
January 2008

Low prevalence of BRCA1 exon rearrangements in familial and young sporadic breast cancer patients.

Fam Cancer 2006 25;5(4):323-6. Epub 2006 May 25.

Genetics Centre, Guy's & St Thomas' Hospital NHS Trust, London, SE1 9RT, UK.

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http://link.springer.com/10.1007/s10689-006-0001-0
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http://dx.doi.org/10.1007/s10689-006-0001-0DOI Listing
September 2007

Determination of the genetic status of cleavage-stage human embryos by microsatellite marker analysis following multiple displacement amplification.

Prenat Diagn 2007 Mar;27(3):206-15

1-Guy's & St Thomas' Centre for PGD, Guy's & St Thomas NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.1638DOI Listing
March 2007

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.

Am J Hum Genet 2005 May 8;76(5):750-62. Epub 2005 Mar 8.

Human Genetics, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom.

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http://dx.doi.org/10.1086/429588DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1199365PMC
May 2005