Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Luke St Heaps"'
Autor:
Benjamin M. Nash, Alan Ma, Gladys Ho, Elizabeth Farnsworth, Andre E. Minoche, Mark J. Cowley, Christopher Barnett, Janine M. Smith, To Ha Loi, Karen Wong, Luke St Heaps, Dale Wright, Marcel E. Dinger, Bruce Bennetts, John R. Grigg, Robyn V. Jamieson
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 7, p 3905 (2022)
The inherited retinal dystrophies (IRDs) are a clinically and genetically complex group of disorders primarily affecting the rod and cone photoreceptors or other retinal neuronal layers, with emerging therapies heralding the need for accurate molecul
Externí odkaz:
https://doaj.org/article/0cebdd4d5ce8417199fe976e77ef071a
Autor:
Joanne Brown, Mark Dexter, King L. Tan, Luke St Heaps, Sally Byatt, Tayyaba Khan, Najmun Nahar, Mark Wong, Winny Varikatt
Publikováno v:
Journal of Clinical Neuroscience. 92:115-119
The importance of molecular testing of gliomas is highlighted in the 2016 revised 4th edition of the WHO Classification of Tumours of the Central Nervous System, which applies an integrated diagnosis of histological and molecular features. In this cl
Autor:
Praveen Sharma, Dorothy Hung, Racha El-Hajj Ghaoui, Dale Wright, Luke St Heaps, Catherine Harris, Stewart J. Kellie, Sumanth Nagabushan, Oksana Mirochnik
Publikováno v:
Cytogenetic and Genome Research. 153:181-189
Acute promyelocytic leukaemia with PML-RARA fusion is usually associated with the t(15;17)(q24.1;q21.1) translocation but may also arise from complex or cryptic rearrangements. The fusion usually resides on chromosome 15 but occasionally on others. W
Autor:
Racha, El-Hajj Ghaoui, Luke, St Heaps, Dorothy, Hung, Sumanth, Nagabushan, Catherine, Harris, Oksana, Mirochnik, Praveen, Sharma, Stewart J, Kellie, Dale C, Wright
Publikováno v:
Cytogenetic and genome research. 153(4)
Acute promyelocytic leukaemia with PML-RARA fusion is usually associated with the t(15;17)(q24.1;q21.1) translocation but may also arise from complex or cryptic rearrangements. The fusion usually resides on chromosome 15 but occasionally on others. W
Autor:
Ordan J. Lehmann, Ella Onikul, Luke St Heaps, James E. H. Smith, Rebecca Williams, Nicole Chia, Kenneth N. Maclean, Tim McCrossin, Gregory Peters, Lesley C. Adès
Publikováno v:
American Journal of Medical Genetics Part A. :381-385
Deletion of distal 6p is associated with a distinctive clinical phenotype including Axenfeld-Rieger malformation, hearing loss, congenital heart disease, dental anomalies, developmental delay, and a characteristic facial appearance. We report the cas
Autor:
David Mowat, Dimitra Tzioumi, Suna Huseyin, Luke St Heaps, David Sillence, Katherine R. Neas, Greg B. Peters, Nicole Chia, Janine Smith, Gary F. Sholler
Publikováno v:
American Journal of Medical Genetics Part A. :425-430
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 literature. Case 1 and 3 were ascertained following the use of subtelomeric FISH to screen for
Publikováno v:
Cancer Genetics and Cytogenetics. 130:29-32
A 66-year-old man with a myelodysplastic syndrome transforming to acute myeloid leukemia showed a complex abnormal karyotype on bone marrow aspirate. An unbalanced dicentric translocation with a very long der(11) long arm—dic(11;19)(q25;p13.4)—wa
Publikováno v:
Annales de Génétique. 43:125-130
A 13-year-old girl with an unbalanced karyotype 45,XX,-15,der(22)t(15;22)(q13;q13.3) de novo had Prader–Willi syndrome (PWS), (score 13.5), but with features of mental and physical retardation more severe than usually seen in PWS. The clinical diag
Autor:
Catherine Crombie, Theresa Harvey, Arabella Smith, Luke St. Heaps, Praveen Sharma, Marcella Roman, Philippa Kirkpatrick
Publikováno v:
Pathology. 35:90-92
Autor:
Robyn V. Jamieson, Greg B. Peters, Maree Flaherty, Patrick P.L. Tam, Marija Mihelec, John R. Grigg, Christina Rudduck, Frank A. Billson, Luke St Heaps
Publikováno v:
Twin research and human genetics : the official journal of the International Society for Twin Studies. 11(4)
Disorders of eye development such as microphthalmia and anophthalmia (small and absent eyes respectively), anterior segment dysgenesis where there may be pupillary and iris anomalies, and associated cataract and glaucoma, often lead to visual impairm