Publications by authors named "Rodger Palmer"

19Publications

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

J Med Genet 2016 05 18;53(5):310-7. Epub 2016 Mar 18.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK Genetics and Genomic Medicine Unit, University College London Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862068PMC
May 2016

Intellectual disability, unusual facial morphology and hand anomalies in sibs.

Am J Med Genet A 2013 Oct 15;161A(10):2401-6. Epub 2013 Aug 15.

Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.36124
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http://dx.doi.org/10.1002/ajmg.a.36124DOI Listing
October 2013

The idic(15) syndrome: expanding the phenotype.

Am J Med Genet A 2012 Jun 14;158A(6):1505-8. Epub 2012 May 14.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.35366DOI Listing
June 2012

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

Pediatr Nephrol 2011 Aug 20;26(8):1331-4. Epub 2011 May 20.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00467-011-1884-zDOI Listing
August 2011

Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.

J Clin Endocrinol Metab 2011 Apr 2;96(4):E685-90. Epub 2011 Feb 2.

Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2010-1239DOI Listing
April 2011

MECP2 duplication in a patient with congenital central hypoventilation.

Am J Med Genet A 2010 Jun;152A(6):1591-3

Department of Pediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33311DOI Listing
June 2010

Evaluation of the efficacy of constitutional array-based comparative genomic hybridization in the diagnosis of aneuploidy using genomic and amplified DNA.

J Obstet Gynaecol Res 2010 Feb;36(1):19-26

Prince Court Medical Centre, Women and Children, Kuala Lumpur, Malaysia.

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http://dx.doi.org/10.1111/j.1447-0756.2009.01110.xDOI Listing
February 2010

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.

Am J Hum Genet 2005 May 30;76(5):833-49. Epub 2005 Mar 30.

London Centre for Paediatric Endocrinology, Biochemistry, Endocrinology, and Metabolism Unit, Institute of Child Health, University College London, London, United Kingdom.

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http://dx.doi.org/10.1086/430134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1199372PMC
May 2005

Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease.

Am J Med Genet A 2003 Apr;118A(1):15-24

Clinical and Molecular Genetics Unit, Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.10103DOI Listing
April 2003