Results 51 to 60 of about 3,190,493 (303)

Comparison of sequencing-based methods to profile DNA methylation and identification of monoallelic epigenetic modifications. [PDF]

, 2010
Analysis of DNA methylation patterns relies increasingly on sequencing-based profiling methods. The four most frequently used sequencing-based technologies are the bisulfite-based methods MethylC-seq and reduced representation bisulfite sequencing (RRBS),
A Bird, A Hellman, A Meissner, AD Smith, Adam Olshen, AK Maunakea, Aleksandar Milosavljevic, Alexander Meissner, Allen Delaney, Andreas Gnirke, AP Feinberg, B Langmead, Bing Ren, Bradley E Bernstein, Brett E Johnson, C Coarfa, C Grunau, Charles B Epstein, Chibo Hong, Christoph Bock, Cristian Coarfa, D Serre, David Haussler, DM Duhl, FV Jacinto, G Bourque, G Kunarso, G Robertson, H Gu, H Lin, H O'Geen, Henriette O'Geen, Hongcang Gu, J Deng, Joseph F Costello, Joseph R Ecker, Junchen Gu, KD Robertson, Kevin J Forsberg, KR Blahnik, KS Pollard, LC Schalkwyk, Lorigail Echipare, M Pick, M Tahiliani, MA Gama-Sosa, Marco A Marra, Martin Hirst, Mattia Pelizzola, Michael Q Zhang, MP Ball, P Arnaud, Peggy J Farnham, PVK Pant, R Alan Harris, R David Hawkins, R Lister, R Lister, RA Waterland, RA Waterland, Raman P Nagarajan, Robert A Waterland, Ryan Lister, S Ito, S Kriaucionis, Sara L Downey, Shaun D Fouse, SJ Cokus, T Wang, TA Down, TE Ludwig, Ting Wang, Tracy Ballinger, Wei Li, Wen-Yu Chung, Xin Zhou, Y Xi, Yongjun Zhao, Yuanxin Xi, ZD Smith   +79 more
core   +2 more sources

High-Resolution Melting Analysis to Detect Antimicrobial Resistance Determinants in South African Neisseria gonorrhoeae Clinical Isolates and Specimens

International Journal of Microbiology, 2022
Background. Antimicrobial resistance is limiting treatment options for Neisseria gonorrhoeae infections. To aid or replace culture and the syndromic management approach, molecular assays are required for antimicrobial susceptibility testing to guide ...
Nireshni Mitchev, Ravesh Singh, Veron Ramsuran, Arshad Ismail, Mushal Allam, Stanford Kwenda, Florah Mnyameni, Nigel Garrett, Khine Swe Swe-Han, Abraham J. Niehaus, Koleka P. Mlisana   +10 more
doaj   +1 more source

Potter′s sequence

Journal of Clinical Neonatology, 2012
Potter's sequence is a rare fatal disorder that occurs in sporadic and autosomal recessive forms with an incidence of 1 in 4000 births. Babies born with this condition are either still born or die very early within the neonatal period. We report a case of Potter's sequence with the typical physical findings and histological findings.
Shastry, Srikanth M., Kolte, Sachin S., Sanagapati, Panduranga R.   +2 more
openaire   +3 more sources

Heparin sequencing [PDF]

Glycobiology, 2002
Heparin is a highly sulfated glycosaminoglycan widely used as an anticoagulant. Modifications in its relatively uniform structure appear to be key to its recognition and modulation of serine proteases, growth factors, chemokines, and extracellular proteins, as has been most clearly demonstrated in the antithrombin binding site.
Stringer, Sally E., Kandola, Balbant S., Pye, David A., Gallagher, John T.   +3 more
openaire   +2 more sources

Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia

Case Reports in Genetics
Primary ciliary dyskinesia (PCD) is a rare, inherited disease resulting from abnormal structure and/or function of cilia. To date, pathogenic variants in over 50 genes have been reported as causes of PCD.
Liora H. Feshbach, Morgan Similuk, Laura M. Amendola, Katie L. Lewis, Magdalena A. Walkiewicz, Mari Tokita, Rajarshi Ghosh, Andrew Lipton   +7 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

Identifying predictive features of Clostridium difficile infection recurrence before, during, and after primary antibiotic treatment

Microbiome, 2017
Background Colonization by the pathogen Clostridium difficile often occurs in the background of a disrupted microbial community. Identifying specific organisms conferring resistance to invasion by C.
Sepideh Pakpour, Amit Bhanvadia, Roger Zhu, Abhimanyu Amarnani, Sean M. Gibbons, Thomas Gurry, Eric J. Alm, Laura A. Martello   +7 more
doaj   +1 more source

Illumina sequencing of 15 deafness genes using fragmented amplicons [PDF]

, 2014
BACKGROUND: Resequencing of deafness related genes using GS FLX massive parallel sequencing of PCR amplicons spanning selected genes has previously been reported as a successful strategy to discover causal variants.
Coucke, Paul, De Keulenaer, Sarah, De Schrijver, Joachim, Deforce, Dieter, Van Criekinge, Wim, Van Nieuwerburgh, Filip, Vandesompele, Jo   +6 more
core   +1 more source

The sequence of sequencers: The history of sequencing DNA

Genomics, 2016
Determining the order of nucleic acid residues in biological samples is an integral component of a wide variety of research applications. Over the last fifty years large numbers of researchers have applied themselves to the production of techniques and technologies to facilitate this feat, sequencing DNA and RNA molecules. This time-scale has witnessed
Heather, JM, Chain, B
openaire   +3 more sources