Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Marcus Hinchcliffe"'
Autor:
Andrew Mallett, Mark J. Cowley, Michel Tchan, Sarah R. Senum, Gopala K. Rangan, André E. Minoche, Amali Mallawaarachchi, Timothy J. Furlong, Ben Lundie, John Shine, Peter C. Harris, Marcel E. Dinger, Georgina E Hollway, Velimir Gayevskiy, Marcus Hinchcliffe, Leslie Burnett, Thomas Ohnesorg, Yvonne J. Hort, Nicole Schonrock, Chirag Patel
Publikováno v:
Eur J Hum Genet
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is common, with a prevalence of 1/1000 and predominantly caused by disease-causing variants in PKD1 or PKD2. Clinical diagnosis is usually by age-dependent imaging criteria, which is challenging in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d01560009049474c33ee21f7ddd6a90b
https://doi.org/10.1038/s41431-020-00796-4
https://doi.org/10.1038/s41431-020-00796-4
Autor:
Marcus Hinchcliffe, Belinda Mercorella, Dennis K. Yue, Jason Pinner, Jencia Wong, Stuart J. Cole, Victoria L. Rudland, Lynda Molyneaux, Maria I. Constantino, Glynis P. Ross
Publikováno v:
Diabetes Care. 39:50-52
OBJECTIVE Glucokinase monogenic diabetes (GCK–maturity-onset diabetes of the young [MODY]) should be differentiated from gestational diabetes mellitus (GDM) because management differs. New pregnancy-specific screening criteria (NSC) have been propo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211958a9baafe99e3fccb5639a1dfa6d
https://doi.org/10.2337/dc15-1001
https://doi.org/10.2337/dc15-1001
Autor:
Alison Colley, Marcus Hinchcliffe, Vicki Petrou, Boyd H. Webster, Meredith Wilson, Jennifer Blackwell, Robert Lindeman, Ahti Lammi, Anne Gilbert, Ronald J. Trent, John Rowell, Mona Saleh, P Joy Ho, Donald K. Bowden
Publikováno v:
Pathology. 38:507-519
This document considers a number of scenarios involving complex haemoglobinopathies and provides 28 recommendations at both the clinical and laboratory levels on how these should be managed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a8c137282d51c77832e255b3098e90
https://doi.org/10.1080/00313020601027634
https://doi.org/10.1080/00313020601027634
Autor:
Marcus Hinchcliffe
Publikováno v:
Methods in Molecular Biology ISBN: 9781493908462
Exome sequencing for research has become available for broadly based genomic studies as well as smaller targeted investigations. New exome research projects being considered will intentionally process a large amount of common and rare DNA variation f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a660a136cf29d5d9dde7b93f6c93fe97
https://doi.org/10.1007/978-1-4939-0847-9_12
https://doi.org/10.1007/978-1-4939-0847-9_12
Autor:
L. Molloy, Huong Le, Lucinda Freeman, Marcus Hinchcliffe, David R. Sullivan, Ronald J. Trent, Anthony Fimmel
Publikováno v:
Pathology. 46(1)
Summary Our aim was to assess the sensitivity and specificity of a next generation DNA sequencing (NGS) platform using a capture based DNA library preparation method. Data and experience gained from this diagnostic validation can be used to progress
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aba2db60d33c1de12c7067749177f8e
https://pubmed.ncbi.nlm.nih.gov/24300713
https://pubmed.ncbi.nlm.nih.gov/24300713
Autor:
Marcus, Hinchcliffe, Paul, Webster
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 760
Here we describe a bioinformatic strategy for extracting and analyzing the list of variants revealed from an exome sequencing project to identify potential disease genes. This in silico method filters out the majority of common SNPs and extracts a li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7673386c24ae7742574c6f1f6715cfd1
https://pubmed.ncbi.nlm.nih.gov/21779993
https://pubmed.ncbi.nlm.nih.gov/21779993
Autor:
Marcus Hinchcliffe, Bing Yu
Publikováno v:
Methods in Molecular Biology ISBN: 9781617791758
In Silico Tools for Gene Discovery
In Silico Tools for Gene Discovery
1. Accessing and Selecting Genetic Markers from Available Resources Christopher G. Bell 2. Linkage Analysis Jennifer H. Barrett and M. Dawn Teare 3. Association Mapping Jodie N. Painter, Dale R. Nyholt, and Grant W. Montgomery 4. The ForeSee (4C) App
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8620dba1b3b6457d86bde209631ea49f
https://doi.org/10.1007/978-1-61779-176-5
https://doi.org/10.1007/978-1-61779-176-5
Autor:
Paul Webster, Marcus Hinchcliffe
Publikováno v:
Methods in Molecular Biology ISBN: 9781617791758
Here we describe a bioinformatic strategy for extracting and analyzing the list of variants revealed from an exome sequencing project to identify potential disease genes. This in silico method filters out the majority of common SNPs and extracts a li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83b053f0f8829f25731296d30b188171
https://doi.org/10.1007/978-1-61779-176-5_7
https://doi.org/10.1007/978-1-61779-176-5_7
Publikováno v:
Methods in molecular medicine. 141
DNA sequencing is increasingly used in a range of medical activities involving DNA diagnostics and research. This is the result of improving technology and cheaper costs. Paradoxically, a greater demand for DNA sequencing has placed additional work o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::05aa6e77acd1479e3f83e22c3b6feb35
https://pubmed.ncbi.nlm.nih.gov/18453090
https://pubmed.ncbi.nlm.nih.gov/18453090
Publikováno v:
Methods in Molecular Medicine™ ISBN: 9781588297914
DNA sequencing is increasingly used in a range of medical activities involving DNA diagnostics and research. This is the result of improving technology and cheaper costs. Paradoxically, a greater demand for DNA sequencing has placed additional work o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c68a261826eb9c00085b3e2de002dc6f
https://doi.org/10.1007/978-1-60327-148-6_10
https://doi.org/10.1007/978-1-60327-148-6_10