Publications by authors named "Celia Moss"

46Publications

Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome?

Am J Med Genet A 2020 Sep 25. Epub 2020 Sep 25.

Department of Paediatric Dermatology, Birmingham Children's Hospital, Birmingham, UK.

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http://dx.doi.org/10.1002/ajmg.a.61887DOI Listing
September 2020

Lung Protection by Cathepsin C Inhibition: A New Hope for COVID-19 and ARDS?

J Med Chem 2020 Aug 7. Epub 2020 Aug 7.

Comprehensive Pneumology Center, Institute of Lung Biology and Disease, German Center for Lung Research (DZL), Munich and Max-Planck Institute of Neurobiology, 82152 Planegg-Martinsried, Germany.

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http://dx.doi.org/10.1021/acs.jmedchem.0c00776DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413214PMC
August 2020

Extending the phenotype of midface toddler excoriation syndrome (MiTES): Five new cases in three families with PR domain containing protein 12 (PRDM12) mutations.

J Am Acad Dermatol 2019 12 22;81(6):1415-1417. Epub 2019 May 22.

Department of Dermatology, Birmingham Children's Hospital, United Kingdom; College of Medical and Dental Sciences, University of Birmingham, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2019.05.036DOI Listing
December 2019

The 100 000 Genomes Project: feeding back to patients.

BMJ 2018 Jun 5;361:k2441. Epub 2018 Jun 5.

University Hospitals Birmingham NHS Foundation Trust, Birmingham B15 2TH, UK.

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http://dx.doi.org/10.1136/bmj.k2441DOI Listing
June 2018

Congenital cutaneous lymphadenoma.

J Cutan Pathol 2017 Nov 5;44(11):954-957. Epub 2017 Sep 5.

Histopathology Department, Birmingham Children's Hospital, Birmingham, UK.

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http://dx.doi.org/10.1111/cup.13016DOI Listing
November 2017

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.

J Invest Dermatol 2017 06 19;137(6):1378-1380. Epub 2017 Jan 19.

St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X173003
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http://dx.doi.org/10.1016/j.jid.2017.01.004DOI Listing
June 2017

Topical Therapy in Atopic Dermatitis in Children.

Indian J Dermatol 2016 Nov-Dec;61(6):656-661

Department of Paediatric Dermatology, Birmingham Children's Hospital, Birmingham, UK; University of Birmingham, Birmingham, UK.

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http://www.e-ijd.org/text.asp?2016/61/6/656/193677
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http://dx.doi.org/10.4103/0019-5154.193677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122282PMC
December 2016

Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.

J Clin Endocrinol Metab 2016 06 22;101(6):2545-53. Epub 2016 Mar 22.

Institutes of Metabolism and Systems Research (J.I., A.E.T., S.S., D.M.O., C.H.L.S., W.A.) and Cancer and Genomic Sciences (T.G.B.), University of Birmingham, Birmingham B15 2TT, United Kingdom; Centres for Endocrinology, Diabetes and Metabolism (J.I., A.E.T., R.P.D., T.G.B., C.H.L.S., J.M.W.K., W.A.) and Rare Diseases and Personalised Medicine (T.G.B.), Birmingham Health Partners, Birmingham B15 2TH, United Kingdom; Departments of Paediatric Endocrinology and Diabetes (J.I., R.P.D., T.G.B., J.M.W.K.) and Paediatric Dermatology (C.M.), Birmingham Children's Hospital National Health Service Foundation Trust, Birmingham B4 6NH, United Kingdom; MRC-Holland bv (R.V.), 1057-DN Amsterdam, The Netherlands; Department of Paediatric Endocrinology (R.A.), Great Ormond St Hospital for Children, London WC1N 3JH, United Kingdom; and Benioff Children's Hospital (C.H.L.S.), University of California San Francisco, Oakland, California 94609.

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http://dx.doi.org/10.1210/jc.2015-4101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891801PMC
June 2016

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.

J Hum Genet 2015 Nov 27;60(11):717-22. Epub 2015 Aug 27.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1038/jhg.2015.103DOI Listing
November 2015

Hereditary vitamin D-resistant rickets presenting as alopecia.

Pediatr Dermatol 2014 Jul-Aug;31(4):519-20. Epub 2014 Jun 11.

Department of Dermatology, Oxford University Hospitals, Oxford, UK.

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http://dx.doi.org/10.1111/pde.12327DOI Listing
May 2015

Use of a novel laparoscopic gastrostomy technique in children with severe epidermolysis bullosa.

J Pediatr Gastroenterol Nutr 2014 May;58(5):621-3

*Department of Paediatric Surgery †Department of Dietetics ‡Department of Dermatology, Birmingham Children's Hospital, Birmingham, UK.

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http://dx.doi.org/10.1097/MPG.0000000000000256DOI Listing
May 2014

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 2014

Multiple cerebral abscesses in Papillon-Lefèvre syndrome.

Childs Nerv Syst 2013 Aug 18;29(8):1227-9. Epub 2013 May 18.

Paediatric Intensive Care Unit, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.

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http://link.springer.com/content/pdf/10.1007%252Fs00381-013-
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http://link.springer.com/10.1007/s00381-013-2152-2
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http://dx.doi.org/10.1007/s00381-013-2152-2DOI Listing
August 2013

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

Arch Dermatol 2011 Jun 21;147(6):681-6. Epub 2011 Feb 21.

Centre for Cutaneous Research, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, 4 Newark St, London E1 2AT, England.

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http://dx.doi.org/10.1001/archdermatol.2011.9DOI Listing
June 2011

Links between granuloma annulare, necrobiosis lipoidica diabeticorum and childhood diabetes: a matter of time?

Pediatr Dermatol 2010 Mar-Apr;27(2):178-81

Department of Paediatrics, Sandwell & West Birmingham Hospitals NHS Trust, Birmingham, UK.

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http://dx.doi.org/10.1111/j.1525-1470.2010.01099.xDOI Listing
September 2010

A new way to classify genetic skin disease.

Authors:
Celia Moss

J Invest Dermatol 2009 Nov;129(11):2543-5

Department of Dermatology, Birmingham Children's Hospital, Birmingham, UK.

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http://dx.doi.org/10.1038/jid.2009.292DOI Listing
November 2009

Degos disease: a new simulator of non-accidental injury.

Dev Med Child Neurol 2009 Aug 22;51(8):647-50. Epub 2009 Jun 22.

Department of Dermatology, Birmingham Children's Hospital, Birmingham, UK.

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http://dx.doi.org/10.1111/j.1469-8749.2009.03349.xDOI Listing
August 2009

A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.

Am J Hum Genet 2008 Oct 2;83(4):495-503. Epub 2008 Oct 2.

Department of Biochemistry, University of Oulu, PO Box 3000, FI-90014 University of Oulu, Finland.

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http://dx.doi.org/10.1016/j.ajhg.2008.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2561927PMC
October 2008

Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features.

J Am Acad Dermatol 2008 Apr;58(4):697-702

Department of Dermatology, Cardiff University, Cardiff, United Kingdom.

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http://dx.doi.org/10.1016/j.jaad.2007.11.018DOI Listing
April 2008

End-stage renal failure in adolescence with Sjögren's syndrome autoantibodies SSA and SSB.

Pediatr Nephrol 2007 Oct 17;22(10):1793-7. Epub 2007 Jul 17.

Department of Nephrology, Birmingham Children's Hospital, Birmingham, B4 6NH, UK.

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http://dx.doi.org/10.1007/s00467-007-0526-yDOI Listing
October 2007

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.

Nat Genet 2006 Nov 15;38(11):1245-7. Epub 2006 Oct 15.

Centre for Cutaneous Research, Institute of Cell & Molecular Science, Queen Mary's School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London E1 4AT, UK.

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http://dx.doi.org/10.1038/ng1883DOI Listing
November 2006

Two families with Greither's syndrome caused by a keratin 1 mutation.

J Am Acad Dermatol 2005 Nov;53(5 Suppl 1):S225-30

Department of Dermatology, Birmingham Children's Hospital, Birmingham, United Kingdom.

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http://dx.doi.org/10.1016/j.jaad.2005.01.139DOI Listing
November 2005

Skin and kin.

Authors:
Celia Moss

J R Soc Med 2005 May;98(5):200-2

Birmingham Children's Hospital, UK.

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http://dx.doi.org/10.1258/jrsm.98.5.200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1129036PMC
May 2005

Deletion of the SLUG (SNAI2) gene results in human piebaldism.

Am J Med Genet A 2003 Oct;122A(2):125-32

Instituto de Biología Molecular y Celular del Cáncer (IBMCC), Centro de Investigación del Cáncer, CSIC/Universidad de Salamanca, Salamanca, Spain.

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http://dx.doi.org/10.1002/ajmg.a.20345DOI Listing
October 2003

Randomised controlled study of early pulsed dye laser treatment of uncomplicated childhood haemangiomas: results of a 1-year analysis.

Lancet 2002 Aug;360(9332):521-7

Department of Dermatology, The Birmingham Children's Hospital NHS Trust, Birmingham B4 6NL, UK.

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http://dx.doi.org/10.1016/S0140-6736(02)09741-6DOI Listing
August 2002