Results 71 to 80 of about 65,945 (217)

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Investigation of a Carbapenemase-producing Acinetobacter baumannii outbreak using whole genome sequencing versus a standard epidemiologic investigation

Antimicrobial Resistance and Infection Control, 2018
Background The standard epidemiologic investigation of outbreaks typically relies on spatiotemporal data and pulsed-field gel electrophoresis (PFGE), but whole genome sequencing (WGS) is becoming increasingly used.
Chloe Bogaty, Laura Mataseje, Andrew Gray, Brigitte Lefebvre, Simon Lévesque, Michael Mulvey, Yves Longtin   +6 more
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

DIHNET – Presentation – 7 WG meeting – Feedback DIHNET WG- 01072019

, 2019
Begoña Sánchez's (TECNALIA) presentation "Feedback from the DIHNET WGs and approach to the breakout 1". 7th Working Group meeting on DIHs. 1st July 2019, Brussels.
openaire   +1 more source

WEHRMACHTGEFÄNGNIS (WG) GLATZ

, 2022
Three separate “fortress prisons” existed in the eighteenth-century fortress in Glatz (map 4e) (today Kłodzko, Poland) in the period before World War II.1 On January 10, 1938, the fortress prison was closed to new arrivals, and, in its place, WG Glatz was established.
openaire   +1 more source

Prediction of drug resistance profile of multidrug-resistant Mycobacterium tuberculosis (MDR-MTB) isolates from newly diagnosed case by whole genome sequencing (WGS): a study from a high tuberculosis burden country [PDF]

, 2022
Wenwen Sun, Xuwei Gui, Zheyuan Wu, Yangyi Zhang, Liping Yan   +4 more
openalex   +1 more source

The invasive GAS puzzle in Italy: genomic insights from a hospital cohort in a fragmented surveillance landscape

Frontiers in Cellular and Infection Microbiology
Streptococcus pyogenes (Group A Streptococcus, GAS) is a re-emerging human pathogen responsible for a wide spectrum of diseases, from mild pharyngitis to life-threatening invasive infections that have risen globally in recent years.
Roberto Rosato, Giulia Santarelli, Barbara Fiori, Francesca Romana Monzo, Francesca Romana Monzo, Giordana Cafaro, Tiziana D’Inzeo, Marilena La Sorda, Roberta Creti, Brunella Posteraro, Brunella Posteraro, Brunella Posteraro, Maurizio Sanguinetti, Maurizio Sanguinetti, Maurizio Sanguinetti, Flavio De Maio, Flavio De Maio   +16 more
doaj   +1 more source

WEHRMACHTGEFÄNGNIS (WG) ANKLAM

, 2022
WG Anklam was mentioned in official documentation as early as November 1938, albeit with the additional designation “Zwischenunterkunft Glatz” (today Kłodzko, Poland).1 The provisional unit in Glatz became necessary because the prison in Anklam, which had originally been intended as a women’s detention center, would only be available in late 1940 due ...
openaire   +1 more source

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

EBioMedicine, 2015
Despite the potential of whole-genome sequencing (WGS) to improve patient diagnosis and care, the empirical value of WGS in the cancer genetics clinic is unknown.
Samantha B. Foley, Jonathan J. Rios, Victoria E. Mgbemena, Linda S. Robinson, Heather L. Hampel, Amanda E. Toland, Leslie Durham, Theodora S. Ross   +7 more
doaj   +1 more source

The Northern Arizona SNP Pipeline (NASP): accurate, flexible, and rapid identification of SNPs in WGS datasets [PDF]

, 2016
Jason W. Sahl, Darrin Lemmer, Jason Travis, James M. Schupp, John D. Gillece, Maliha Aziz, Elizabeth M. Driebe, Kevin P. Drees, Nathan Hicks, Charles H. D. Williamson, Crystal M. Hepp, David Smith, Chandler C. Roe, David M. Engelthaler, David M. Wagner, Paul Keim   +15 more
openalex   +1 more source