Search Results - "St Heaps, Luke"

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies by Nash, Benjamin M, Ma, Alan, Ho, Gladys, Farnsworth, Elizabeth, Minoche, Andre E, Cowley, Mark J, Barnett, Christopher, Smith, Janine M, Loi, To Ha, Wong, Karen, St Heaps, Luke, Wright, Dale, Dinger, Marcel E, Bennetts, Bruce, Grigg, John R, Jamieson, Robyn V

“…The inherited retinal dystrophies (IRDs) are a clinically and genetically complex group of disorders primarily affecting the rod and cone photoreceptors or…”
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Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies by Nolen, Leisha D., Amor, David, Haywood, Ashley, St. Heaps, Luke, Willcock, Chris, Mihelec, Marija, Tam, Patrick, Billson, Frank, Grigg, John, Peters, Greg, Jamieson, Robyn V.

“…Anophthalmia and pituitary gland hypoplasia are both debilitating conditions where the underlying genetic defect is unknown in the majority of cases. We…”
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Tumor protein D52 (TPD52) is overexpressed and a gene amplification target in ovarian cancer by Byrne, Jennifer A., Balleine, Rosemary L., Fejzo, Marlena Schoenberg, Mercieca, Janelle, Chiew, Yoke‐Eng, Livnat, Yael, St. Heaps, Luke, Peters, Gregory B., Byth, Karen, Karlan, Beth Y., Slamon, Dennis J., Harnett, Paul, Defazio, Anna

“…Recurrent chromosome 8q gain in ovarian carcinoma is likely to reflect the existence of multiple target loci, as the separate gain of chromosome bands 8q21 and…”
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Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and wilms' tumorigenesis by ALGAR, Elizabeth M, HEAPS, Luke St, DARMANIAN, Artur, DAGAR, Vinod, PRAWITT, Dirk, PETERS, Greg B, COLLINS, Felicity

“…Loss of imprinting at insulin-like growth factor II (IGFII), in association with H19 silencing, has been described previously in a subgroup of…”
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Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome by Maclean, Kenneth, Smith, James, Heaps, Luke St, Chia, Nicole, Williams, Rebecca, Peters, Gregory B., Onikul, Ella, McCrossin, Tim, Lehmann, Ordan J., Adès, Lesley C.

“…Deletion of distal 6p is associated with a distinctive clinical phenotype including Axenfeld–Rieger malformation, hearing loss, congenital heart disease,…”
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SNP chromosome microarray genotyping for detection of uniparental disomy in the clinical diagnostic laboratory by Ngo, Con, Baluyot, Maria, Bennetts, Bruce, Carmichael, Johanna, Clark, Alissa, Darmanian, Artur, Gayagay, Thet, Jones, Luke, Nash, Benjamin, Clark, Melanie, Jose, Ngaire, Robinson, Samantha, St Heaps, Luke, Wright, Dale

“…Single nucleotide polymorphism (SNP) chromosome microarray is well established for investigation of children with intellectual deficit/development delay and…”
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Saliva DNA : An alternative biospecimen for single nucleotide polymorphism chromosomal microarray analysis in autism by Wright, Dale Cameron, Baluyot, Maria Lourdes, Carmichael, Johanna, Darmanian, Artur, Jose, Ngaire, Ngo, Con, Heaps, Luke St, Yendle, Amber, Holman, Katherine, Ziso, Sylvia, Khan, Feroza, Masi, Anne, Silove, Natalie, Eapen, Valsa

“…Abstract Chromosomal microarray analysis (CMA) is typically performed for investigation of autism using blood DNA. However, blood collection poses significant…”
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Three patients with terminal deletions within the subtelomeric region of chromosome 9q by Neas, Katherine R., Smith, Janine M., Chia, Nicole, Huseyin, Suna, Heaps, Luke St, Peters, Greg, Sholler, Gary, Tzioumi, Dimitra, Sillence, David O., Mowat, David

“…We report on three male infants with de novo terminal deletions of chromosome 9q34.3. The clinical features are compared to the nine cases described in the…”
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Chromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and Glaucoma by Mihelec, Marija, St Heaps, Luke, Flaherty, Maree, Billson, Frank, Rudduck, Christina, Tam, Patrick P. L., Grigg, John R., Peters, Greg B., Jamieson, Robyn V.

“…Disorders of eye development such as microphthalmia and anophthalmia (small and absent eyes respectively), anterior segment dysgenesis where there may be…”
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Chromosome loops arising from intrachromosomal tethering of telomeres occur at high frequency in G1 (non-cycling) mitotic cells: Implications for telomere capture by Daniel, Art, St Heaps, Luke

“…BACKGROUND: To investigate potential mechanisms for telomere capture the spatial arrangement of telomeres and chromosomes was examined in G1 (non-cycling)…”
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FISH analysis of brain smears obtained at intraoperative diagnosis – An accurate and fast method to detect 1p/19q-codeletion in gliomas by Brown, Joanne, Byatt, Sally, Khan, Tayyaba, St Heaps, Luke, Dexter, Mark, Nahar, Najmun, Wong, Mark, Tan, King, Varikatt, Winny

“…•FISH for 1p/19-codeletion can be performed on fresh brain smears.•Reliable and fast alternative to FISH on FFPE tissue.•Helps to issue a prompt completed…”
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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 by Smith, Arabella, Robson, Lisa, Heaps, Luke St

“…From among the many suspected patients with Prader–Willi (PWS) or Angelman (AS) syndromes received for diagnosis in a routine genetics laboratory, we present…”
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Use of FISH in an aggressive diffuse large B cell lymphoma by Smith, Arabella, Kirkpatrick, Philippa, Heaps, Luke St, Sharma, Praveen, Roman, Marcella, Harvey, Theresa, Crombie, Catherine

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Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH by Smith, Arabella, St. Heaps, Luke, Robson, Lisa

“…Laboratory‐based reports of the cytogenetic abnormalities detected during the course of testing for deletion del(22q) are scant. We report our findings from…”
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FLT3 and NPM1 mutations in acute myeloid leukemia (AML) with double trisomy of chromosomes 8 and 21 by Wu, Zhanhe, Shama, Praveen, Ho, Man Yuk, Heaps, Luke St, Wright, Dale

“…Characterisation of AML by cytogenetics and molecular genetics. A 60-year-old female with previous melanoma and squamous cell carcinoma presented with 60%…”
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Infantile fibrosarcoma: beware the small biopsy by Webster, Bradley, Arbuckle, Susan, Graf, Nicole, Heaps, Luke St, Charlton, Amanda

“…Infantile fibrosarcoma (IF) is a rare neoplasm occurring in infants <2 years of age. IF presents as a rapidly growing infiltrative mass and frequently recurs…”
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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 by Wallis, Mathew J., Kelly, Amanda L., Peters, Gregory B., St Heaps, Luke, Nandini, Adayapalam, McGaughran, Julie M.

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Review of referrals for the FISH detection of Williams syndrome highlights the importance of testing in supravalvular aortic stenosis/pulmonary stenosis by St. Heaps, Luke, Robson, Lisa, Smith, Arabella

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Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres by Daniel, Art, St Heaps, Luke, Sylvester, Dianne, Diaz, Sara, Peters, Gregory

“…To elucidate the structure of terminal inverted duplications and to investigate potential mechanisms of formation in two cases where there was mosaicism with…”
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Use of FISH in an aggressive diffuse large B cell lymphoma by Smith, Arabella, Kirkpatrick, Philippa, St Heaps, Luke, Sharma, Praveen, Roman, Marcella, Harvey, Theresa, Crombie, Catherine

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