Alan E Fryer

Alan E Fryer

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Alan E Fryer

Alan E Fryer

Publications by authors named "Alan E Fryer"

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12Publications

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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

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

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

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

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

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

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