Luke St Heaps

Luke St Heaps

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Luke St Heaps

Luke St Heaps

Publications by authors named "Luke St Heaps"

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14Publications

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A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings.

Am J Med Genet A 2016 Jul 9;170(7):1930-3. Epub 2016 May 9.

Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland.

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http://dx.doi.org/10.1002/ajmg.a.37689DOI Listing
July 2016

Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.

Twin Res Hum Genet 2008 Aug;11(4):412-21

Eye Genetics Research Group, Children's Medical Research Institute, The Children's Hospital at Westmead and Save Sight Institute, Sydney, Australia.

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http://dx.doi.org/10.1375/twin.11.4.412DOI Listing
August 2008

Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres.

Cell Chromosome 2008 Mar 10;7. Epub 2008 Mar 10.

Department of Cytogenetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, NSW 2145, Australia.

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http://dx.doi.org/10.1186/1475-9268-7-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2292745PMC
March 2008

Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis.

Cancer Res 2007 Mar 26;67(5):2360-5. Epub 2007 Feb 26.

Department of Pediatrics, University of Melbourne and Murdoch Children's Research Institute, Royal Children's Hospital, Parkville 3052, Victoria, Australia.

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http://dx.doi.org/10.1158/0008-5472.CAN-06-3383DOI Listing
March 2007

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

Am J Med Genet A 2006 Aug;140(16):1711-8

Eye Genetics Research Group, Children's Medical Research Institute, The Children's Hospital at Westmead and Save Sight Institute, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.31335DOI Listing
August 2006

Tumor protein D52 (TPD52) is overexpressed and a gene amplification target in ovarian cancer.

Int J Cancer 2005 Dec;117(6):1049-54

Molecular Oncology Laboratory, Oncology Research Unit, The University of Sydney Discipline of Paediatrics and Child Health, The Children's Hospital at Westmead, New South Wales, Australia.

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http://doi.wiley.com/10.1002/ijc.21250
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http://dx.doi.org/10.1002/ijc.21250DOI Listing
December 2005

Three patients with terminal deletions within the subtelomeric region of chromosome 9q.

Am J Med Genet A 2005 Feb;132A(4):425-30

Department of Clinical Genetics, The Children's Hospital at Westmead, New South Wales, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.30496
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http://dx.doi.org/10.1002/ajmg.a.30496DOI Listing
February 2005

Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.

Am J Med Genet A 2005 Feb;132A(4):381-5

Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.30274DOI Listing
February 2005

Chromosome loops arising from intrachromosomal tethering of telomeres occur at high frequency in G1 (non-cycling) mitotic cells: Implications for telomere capture.

Cell Chromosome 2004 Sep 29;3(1). Epub 2004 Sep 29.

Department of Cytogenetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, NSW 2145, Australia.

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http://cellandchromosome.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/1475-9268-3-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC521695PMC
September 2004

Use of two FISH probes provides a cost-effective, simple protocol to exclude an imprinting centre defect in routine laboratory testing for suspected Prader-Willi and Angelman syndrome.

Ann Genet 2002 Oct-Dec;45(4):189-91

Department of Cytogenetics, Royal Alexandra Hospital for Children, Locked Bag 4001, Westmead, NSW 2145, Australia.

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November 2003

Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH.

Am J Med Genet 2002 Dec;113(4):346-50

Department of Cytogenetics, Children's Hospital at Westmead, Westmead, Australia.

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http://doi.wiley.com/10.1002/ajmg.10800
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http://dx.doi.org/10.1002/ajmg.10800DOI Listing
December 2002