Deborah J Shears

Deborah J Shears

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Deborah J Shears

Deborah J Shears

Publications by authors named "Deborah J Shears"

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1q24 deletion syndrome. Two cases and new insights into genotype-phenotype correlations.

Am J Med Genet A 2018 09 6;176(9):2004-2008. Epub 2018 Aug 6.

Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.40426DOI Listing
September 2018

2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family.

Eur J Med Genet 2018 May 4;61(5):273-279. Epub 2018 Jan 4.

Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

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http://dx.doi.org/10.1016/j.ejmg.2018.01.002DOI Listing
May 2018

STAR syndrome: a further case and the first report of maternal mosaicism.

Clin Dysmorphol 2017 Jul;26(3):157-160

aOxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Headington bDepartment of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000176DOI Listing
July 2017

A new acro-osteolysis syndrome caused by duplications including PTHLH.

J Hum Genet 2014 Sep 10;59(9):484-7. Epub 2014 Jul 10.

Department of Genetics, The Hospital for Sick Children, London, UK.

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http://dx.doi.org/10.1038/jhg.2014.58DOI Listing
September 2014

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.

Eur J Hum Genet 2010 Dec 21;18(12):1310-4. Epub 2010 Jul 21.

Department of Pediatric Dentistry, Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.

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http://dx.doi.org/10.1038/ejhg.2010.116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002849PMC
December 2010

Kantaputra mesomelic dysplasia: a second reported family.

Am J Med Genet A 2004 Jul;128A(1):6-11

Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 3EH, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.20640DOI Listing
July 2004

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

Am J Med Genet 2002 Jun;110(2):153-7

Department of Clinical and Molecular Genetics, Institute of Child Health, London, UK.

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http://dx.doi.org/10.1002/ajmg.10421DOI Listing
June 2002