Alan Fryer

Alan Fryer

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Alan Fryer

Alan Fryer

Publications by authors named "Alan Fryer"

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Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.

Orphanet J Rare Dis 2019 May 10;14(1):104. Epub 2019 May 10.

Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, Great Maze Pond, London, SE1 9RT, UK.

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http://dx.doi.org/10.1186/s13023-019-1084-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509852PMC
May 2019

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.

Orphanet J Rare Dis 2018 04 4;13(1):47. Epub 2018 Apr 4.

Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, Great Maze Pond, London, SE1 9RT, UK.

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http://dx.doi.org/10.1186/s13023-018-0795-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885380PMC
April 2018

A case of 9q21.11q22.1 triplication with novel ophthalmic features.

Clin Dysmorphol 2017 Jan;26(1):41-43

aAlder Hey Children's Hospital bCheshire and Merseyside Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000157DOI Listing
January 2017

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Nat Genet 2016 09 1;48(9):1060-5. Epub 2016 Aug 1.

Wellcome Trust Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988037PMC
September 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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https://clinicforspecialchildren.org/wp-content/uploads/2015
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http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
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http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings.

Eur J Med Genet 2015 Apr 19;58(4):235-7. Epub 2015 Feb 19.

Bristol Genetics Laboratory, Southmead Hospital, Bristol, BS10 5NB.

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http://dx.doi.org/10.1016/j.ejmg.2015.02.001DOI Listing
April 2015

Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.

Neurology 2015 Jan 5;84(2):141-7. Epub 2014 Dec 5.

From the Manchester Centre for Genomic Medicine (M.J.S., W.G.N., D.G.E.) and University of Manchester Biomedical Imaging Institute (S.J.M.), Manchester Academic Health Sciences Centre, and Centre for Imaging Sciences (S.J.M.), University of Manchester, UK; Service de Dermatologie (S.B.) and Service de Genetique Medicale (B.I.), CHU Nantes, France; Institut für Klinische Chemie und Laboratoriumsdiagnostik Universitätsklinikum Jena (C.B.), Germany; Centre for Genomic Medicine (S.G.W., S.S.B., J.O., B.A., S.B.D., J.E.U., W.G.N., D.G.E.), St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, UK; INSERM U830 (W.R., F.B.), Laboratoire de Genetique et Biologie des Cancers, Paris, France; Department of Clinical Genetics (A.F.), Alder Hey Children's Hospital, Liverpool, UK; Department of Medical Genetics (C.F.R.), Oslo University Hospital, Norway; International Neuroscience Institute (A.S.), Hannover, Germany; Department of Cellular Pathology and Greater Manchester Neurosciences Centre (D.d.P.), Salford Royal Hospitals NHS Foundation Trust; Department of Clinical Genetics (D.H.), Oxford Radcliffe Hospitals NHS Trust, UK; and Institut Curie (F.B.), SIRIC and Departement d'Oncologie Pediatrique d'Adolescents et Jeunes Adultes, Paris, France.

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http://www.neurology.org/content/84/2/141.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000112
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http://dx.doi.org/10.1212/WNL.0000000000001129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336087PMC
January 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

The tale of a nail continues: further delineation using CGHarray of the critical region at 4q34 causing the volar nail sign.

Clin Dysmorphol 2014 Oct;23(4):152-4

Cheshire & Merseyside Regional Clinical Genetics Service, Alder Hey Children's Hospital, Liverpool, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000045DOI Listing
October 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

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Eur J Med Genet 2014 Oct 3;57(10):587-95. Epub 2014 Sep 3.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; Southeast Scotland Clinical Genetics Services, Western General Hospital, Edinburgh EH4 2XU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.08.007DOI Listing
October 2014

Ocular coloboma and foetal valproate syndrome: four further cases and a hypothesis for aetiology.

Clin Dysmorphol 2014 Apr;23(2):74-5

aMedical School, University of Manchester bManchester Centre for Genomic Medicine, Central Manchester University Hospitals, Manchester cMersey Regional Genetic Service, Royal Liverpool Children's Hospital, Liverpool dClinical Genetic Service, North West London Hospitals NHS Trust, Harrow, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959663PMC
April 2014

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

Orphanet J Rare Dis 2014 Jan 28;9:15. Epub 2014 Jan 28.

Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.

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http://dx.doi.org/10.1186/1750-1172-9-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937150PMC
January 2014

Connecting with connexins.

Australas J Dermatol 2013 Nov 28;54(4):287-9. Epub 2013 Jun 28.

Department of Dermatology, Royal Liverpool and Broadgreen Hospital NHS Trust, Southport, UK.

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http://dx.doi.org/10.1111/ajd.12070DOI Listing
November 2013

Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions.

Am J Med Genet A 2013 May 13;161A(5):1117-21. Epub 2013 Mar 13.

Department of Medical Genetics, Spectrum Health, Grand Rapids, MI 49503, USA.

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http://dx.doi.org/10.1002/ajmg.a.35791DOI Listing
May 2013

Multiple malignancies in a child with de novo TP53 mutation.

Pediatr Hematol Oncol 2011 May 23;28(4):338-43. Epub 2011 Feb 23.

Department of Paediatric Oncology, Alder Hey Childrens' NHS Foundation Trust, Liverpool, UK.

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http://www.tandfonline.com/doi/full/10.3109/08880018.2010.54
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http://dx.doi.org/10.3109/08880018.2010.548439DOI Listing
May 2011

Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting.

Am J Med Genet A 2010 Mar;152A(3):718-20

Department of Ophthalmology, Royal Victoria Hospital, Belfast, Northern Ireland, UK.

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http://dx.doi.org/10.1002/ajmg.a.33232DOI Listing
March 2010

Septo-optic dysplasia, limb anomalies and cutis aplasia: further evidence for overlap between Pagon and Adams-Oliver syndromes.

Clin Dysmorphol 2009 Oct;18(4):228-31

Cheshire and Merseyside Regional Clinical Genetics Department, The Countess of Chester Hospital NHS Foundation Trust, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32832dc33aDOI Listing
October 2009

A review of prenatally detected femoral abnormalities.

Clin Dysmorphol 2009 Jul;18(3):127-30

Cheshire and Merseyside Clinical Genetics Service, Department of Clinical, Genetics, Royal Liverpool Children's Hospital, Alder Hey, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32832443b1DOI Listing
July 2009

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

Hum Reprod 2009 Mar 10;24(3):741-7. Epub 2008 Dec 10.

Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham B15 2TT, UK.

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https://academic.oup.com/humrep/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humrep/den406DOI Listing
March 2009

Mutations in the chromatin-associated protein ATRX.

Hum Mutat 2008 Jun;29(6):796-802

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/humu.20734DOI Listing
June 2008

Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero.

Eur J Med Genet 2007 Nov-Dec;50(6):411-20. Epub 2007 Sep 11.

Department of Clinical Genetics, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK.

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http://dx.doi.org/10.1016/j.ejmg.2007.08.002DOI Listing
March 2008

Mucosal lesions can occur in leopard syndrome.

Authors:
Alan Fryer

Clin Dysmorphol 2007 Oct;16(4):277-8

Department of Clinical Genetics, Royal Liverpool Children's Hospital, Liverpool, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3281c1c927DOI Listing
October 2007

Evaluating the association between congenital cystic adenomatoid malformation of the lung and abdominal wall laxity.

Clin Dysmorphol 2007 Apr;16(2):77-80

Cheshire and Merseyside Medical Genetics Service, Department of Clinical Genetics, Royal Liverpool Children's Hospital, Liverpool, UK.

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http://dx.doi.org/10.1097/MCD.0b013e328014724eDOI Listing
April 2007

Genitourinary malformations as a feature of the Pallister-Hall syndrome.

Clin Dysmorphol 2006 Apr;15(2):75-9

Department of Clinical Genetics, Royal Liverpool Children's Hospital, Liverpool, UK.

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https://insights.ovid.com/crossref?an=00019605-200604000-000
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http://dx.doi.org/10.1097/01.mcd.0000184972.76657.e1DOI Listing
April 2006

A family with Duane anomaly and distal limb abnormalities: a further family with the arthrogryposis-ophthalmoplegia syndrome.

Am J Med Genet A 2005 Dec;139A(2):123-6

Department of Clinical Genetics, Royal Liverpool Children's Hospital, Liverpool, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.30962DOI Listing
December 2005

Congenital melanocytic naevus with associated neurofibroma and schwannoma-like change.

Clin Dysmorphol 2005 Jul;14(3):159-60

Department of Clinical Genetics, Royal Liverpool Children's Hospital, Eaton Rd, Liverpool, UK.

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July 2005

Index finger abnormalities in Simpson-Golabi-Behmel syndrome.

Authors:
Ruth Day Alan Fryer

Clin Dysmorphol 2005 Jan;14(1):35-6

Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children's Hospital (Alder Hey), Eaton Road, Liverpool, L12 2AP, UK.

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January 2005

Isochromosome 20p associated with multiple congenital abnormalities.

Clin Dysmorphol 2005 Jan;14(1):49-50

Department of Clinical Genetics, Royal Liverpool Children's Hospital dDepartment of Obstetrics,Liverpool, England.

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January 2005

Distal arthrogryposis type IIB: unreported ophthalmic findings.

Am J Med Genet A 2004 May;127A(1):35-9

St. Pauls Eye Unit, Royal Liverpool University Hospital, Prescott Street, Liverpool L7 8XP, UK.

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http://dx.doi.org/10.1002/ajmg.a.20634DOI Listing
May 2004

Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations.

Authors:
Ruth Day Alan Fryer

Clin Dysmorphol 2004 Jan;13(1):17-9

Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children's Hospital, Eaton Road, Liverpool L12 2AP, UK.

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January 2004

Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia.

Authors:
Ruth Day Alan Fryer

Clin Dysmorphol 2003 Oct;12(4):277-8

Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children's Hospital (Alder Hey), Eaton Road, Liverpool, L12 2AP.

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http://dx.doi.org/10.1097/01.mcd.0000081504.97834.43DOI Listing
October 2003

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