Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Steven Nasioulas"'
Autor:
Ingrid E. Scheffer, Amber Boys, Desirée du Sart, Howard R. Slater, Paul J. Lockhart, Kenneth A. Myers, Steven Nasioulas, Jacinta M McMahon
Publikováno v:
Epilepsia. 59(2)
OBJECTIVE: To investigate the significance of variation in ADGRV1 (also known as GPR98, MASS1, and VLGR1), MEF2C, and other genes at the 5q14.3 chromosomal locus in myoclonic epilepsy. METHODS: We studied the epilepsy phenotypes of 4 individuals with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eebb0afbb0da4390867be26ee8f7b7e
https://pubmed.ncbi.nlm.nih.gov/29266188
https://pubmed.ncbi.nlm.nih.gov/29266188
Publikováno v:
Best Practice & Research Clinical Gastroenterology. 23:197-207
A multimodal approach of complementary techniques targeting primarily truncating, deletion and rearrangement mutations provides a robust screening protocol that identifies the vast majority of pathogenic germline APC gene mutations in FAP patients. P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41114454de63049598c0d3789353e8a3
https://doi.org/10.1016/j.bpg.2009.02.010
https://doi.org/10.1016/j.bpg.2009.02.010
Autor:
Shannon Cowie, Elizabeth Chow, Lara Lipton, Elly Lynch, Barbara A. Leggett, Finlay A. Macrae, Daniel D. Buchanan, Desirée du Sart, Jeremy R. Jass, Ingrid Winship, Gregor Brown, Rebecca D’Souza, Melissa A. Barker, Steven Nasioulas, Clelia Aragona, Lindy Hodgkin, Joanne P. Young
Publikováno v:
Gastroenterology. 131:30-39
Background & Aims: Hyperplastic polyposis syndrome (HPS) is defined phenotypically with multiple, large and/or proximal hyperplastic polyps. There is no known germ-line predisposition. We aimed to characterize the clinicopathologic features of 38 pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbda05757e4b6e6b2f44f19c4a9469fc
https://doi.org/10.1053/j.gastro.2006.03.046
https://doi.org/10.1053/j.gastro.2006.03.046
Autor:
K. H. Andy Choo, Katrina M. Bell, Manqiu Cao, Howard R. Slater, Dione K. Bailey, Giulia C. Kennedy, Robert Henke, Hua Ren, Steven Nasioulas
Publikováno v:
The American Journal of Human Genetics. 77(5):709-726
Mutation of the human genome ranges from single base-pair changes to whole-chromosome aneuploidy. Karyotyping, fluorescence in situ hybridization, and comparative genome hybridization are currently used to detect chromosome abnormalities of clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c6927bf25bacf3e61a97028516ca32d
Autor:
Ian T. Jones, Rodney J. Scott, Susan M. Forrest, Steven Nasioulas, R. J McKinlay Gardner, D. James B. St. John
Publikováno v:
Familial Cancer. 1:3-7
The attenuated form of familial adenomatous polyposis coli (AAPC) is associated with mutations in the adenomatous polyposis coli (APC) gene which cluster in the 5′ region of the gene. It has been proposed that a 'genotype–phenotype boundary' exis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::05f952859031ae2b4428d4eab79ae3ee
https://doi.org/10.1023/a:1011570523343
https://doi.org/10.1023/a:1011570523343
Publikováno v:
Human Mutation. 11:S314-S316
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9f24553f861ad01e3457c39b797044d
https://doi.org/10.1002/humu.1380110198
https://doi.org/10.1002/humu.1380110198
Autor:
Barbara A. Leggett, Thomas Robertson, Jeanine Young, Jeremy R. Jass, R. L. Buttenshaw, Steven Nasioulas, A Tannenberg, Ngaire Knight, Melissa A. Barker
Publikováno v:
Journal of clinical pathology. 55(3)
Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by mutation of the APC gene. It is characterised by the appearance of hundreds to thousands of colorectal adenomas in adolescence and the subsequent development of colorect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a657b75ccb9af8a5404f4b78308783d7
https://pubmed.ncbi.nlm.nih.gov/11896079
https://pubmed.ncbi.nlm.nih.gov/11896079
Autor:
Steven Nasioulas, W. J. H. Scott, Finlay A. Macrae, E. Edkins, R. J. M. Gardner, D A Kool, I. R. Walpole
Publikováno v:
Gastroenterology. 113(1)
Familial adenomatous polyposis (FAP) is caused by mutations in the adenomatous polyposis coli (APC) gene, and different mutations may produce different clinical pictures. Most mutations occur in the 5' half of the gene, and mutations toward the 3' en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::404f9ba38ed0e1be8d806ad65bef5eb6
https://pubmed.ncbi.nlm.nih.gov/9207294
https://pubmed.ncbi.nlm.nih.gov/9207294
Autor:
R. J McKinlay Gardner, Elly Lynch, Joy Yaplito-Lee, Sharyn E. Stock-Myer, Damien L. Bruno, Steven Nasioulas, Phung La, Howard R. Slater, David Coman
Publikováno v:
Molecular Genetics and Metabolism. 99:329
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::602332df9794523887acbbb0aa1abaca
https://doi.org/10.1016/j.ymgme.2009.11.006
https://doi.org/10.1016/j.ymgme.2009.11.006
Autor:
Edward Edkins, Susan M. Forrest, Maija R.J. Kohonen-Corish, Shireen R. Lamandé, Peter H. Byers, Steven Nasioulas, Susanna Freddi, Jenny Douglas, John F. Bateman, Robyn Otway
Publikováno v:
Human Mutation. 13:311
The protein truncation test (PTT) is a mutation-detection method used to scan for premature termination (nonsense) mutations. PCR amplification of the DNA or mRNA source material is performed using forward primers containing a T7-promoter sequence an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01e5a722460e43cacc560a5b55b620a1
https://doi.org/10.1002/(sici)1098-1004(1999)13:4<311::aid-humu8>3.3.co
https://doi.org/10.1002/(sici)1098-1004(1999)13:4<311::aid-humu8>3.3.co