Sue Malcolm

Sue Malcolm

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Sue Malcolm

Sue Malcolm

Publications by authors named "Sue Malcolm"

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31Publications

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Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.

Hum Mutat 2016 Feb 23;37(2):184-93. Epub 2015 Nov 23.

Laboratoire de Génétique de Maladies Rares EA 7402, Université de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1002/humu.22926DOI Listing
February 2016

Experience of targeted Usher exome sequencing as a clinical test.

Mol Genet Genomic Med 2014 Jan 10;2(1):30-43. Epub 2013 Jul 10.

U827, Inserm Montpellier, F-34000, France ; Laboratoire de Génétique Moléculaire, CHU Montpellier Montpellier, F-34000, France.

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http://doi.wiley.com/10.1002/mgg3.25
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http://dx.doi.org/10.1002/mgg3.25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907913PMC
January 2014

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.

Neurogenetics 2007 Jan 13;8(1):39-44. Epub 2006 Sep 13.

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

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http://dx.doi.org/10.1007/s10048-006-0062-0DOI Listing
January 2007

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome.

Mol Vis 2007 Jan 26;13:102-7. Epub 2007 Jan 26.

Laboratoire de Génétique Moléculaire du CHU de Montpellier, Institut Universitaire de Recherche Clinique, Montpellier, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2533038PMC
January 2007

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.

Eur J Hum Genet 2005 Dec;13(12):1254-60

Laboratoire de Génétique Moleculaire et Chromosomique, CHU de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201478DOI Listing
December 2005

De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.

J Am Soc Nephrol 2005 Jul 11;16(7):2141-9. Epub 2005 May 11.

Nephro-Urology Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1E 1EH, UK.

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http://dx.doi.org/10.1681/ASN.2004090776DOI Listing
July 2005

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

Neuromuscul Disord 2004 Oct;14(10):650-8

Laboratoire de Génétique Moleculaire et Chromosomique, Institut Universitaire de Recherche Clinique (IURC), CHU de Montpellier, 641 avenue du Doyen G. Giraud, 34093 Montpellier Cedex 5, France.

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http://dx.doi.org/10.1016/j.nmd.2004.05.002DOI Listing
October 2004

OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

J Am Soc Nephrol 2004 Oct;15(10):2556-68

Nephro-Urology Unit, Institute of Child Health, University College London, WC1N 1EH, UK.

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http://www.jasn.org/cgi/doi/10.1097/01.ASN.0000140220.46477.
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http://dx.doi.org/10.1097/01.ASN.0000140220.46477.5CDOI Listing
October 2004

Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.

Am J Med Genet A 2004 Mar;125A(2):167-72

Molecular Embryology Unit, Institute of Child Health and Great Ormond Street Hospital, University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.20343DOI Listing
March 2004

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

Three craniosynostotic patients with tracheal sleeve.

Clin Dysmorphol 2003 Jan;12(1):75

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

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http://dx.doi.org/10.1097/01.mcd.0000047373.23622.9dDOI Listing
January 2003

Folate and the face: evaluating the evidence for the influence of folate genes on craniofacial development.

Cleft Palate Craniofac J 2002 May;39(3):327-31

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

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http://dx.doi.org/10.1597/1545-1569_2002_039_0327_fatfet_2.0.co_2DOI Listing
May 2002

No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome.

Am J Med Genet 2002 Apr;109(2):117-20

Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom, UK.

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http://dx.doi.org/10.1002/ajmg.10318DOI Listing
April 2002

Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria.

Cleft Palate Craniofac J 2002 Mar;39(2):246-8

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

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http://dx.doi.org/10.1597/1545-1569_2002_039_0246_cabfoa_2.0.co_2DOI Listing
March 2002