Results 151 to 160 of about 1,533,392 (296)

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas, Peter Lauffer, Niels Vos, Paola Lombardi, Marcel M. A. M. Mannens, Youp Zegers, Laura J. C. M. van Zutven, Aeilko H. S. Zwinderman, Mieke M. van Haelst, Jet Bliek   +9 more
wiley   +1 more source

Infrared spectroscopy enables rapid, robust, portable COVID-19 saliva screening based on pathophysiological response to SARS-CoV-2

, 2021
Kazmer ST, Hartel G, Robinson H, Richards RS, Yan K, Van Hal SJ, Chan R, Hind A, Bradley D, Zieschang F, Rawle DJ, Le TT, Reid DW, Suhrbier A, Hill MM.   +14 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Expert Strategies: Controversies in Management of Sinonasal Malignancies—Global Perspectives Through a Mixed Methods Approach

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Sinonasal malignancies (SNMs) are a rare group of diseases with limited high‐level evidence to guide management. Where data are currently lacking, contemporary management principles may be guided by clinical expertise and experience.
Garret Choby, Katie M. Phillips, Michael Xie, Jason R. Crossley, Vivek C. Pandrangi, Vidit M. Talati, Michael T. Chang, Jennifer E. Douglas, Mathew N. Geltzeiler, Nyall R. London Jr, Christopher R. Roxbury, John R. Craig, Zara M. Patel, Ahmad R. Sedaghat, Raj Sindwani, Bobby A. Tajudeen, Nithin D. Adappa, Neal S. Akhave, Christian S. Betz, Ricardo L. Carrau, Roy R. Casiano, Paolo Castelnuovo, Marc A. Cohen, John R. de Almeida, Marco Ferrari, Charalampos S. Floudas, Christos Georgalas, Ehab Y. Hanna, Glenn J. Hanna, Pr. Philippe Herman, Adam L. Holtzman, Jay J. Liao, John N. Lukens, Erin L. McKean, William M. Mendenhall, Piero Nicolai, Gurston G. Nyquist, Kazuhiro Omura, James N. Palmer, Jack Phan, Katharine A. Price, Mindy R. Rabinowitz, Marc R. Rosen, Nabil F. Saba, Zoukaa B. Sargi, Carl H. Snyderman, Shirley Y. Su, Raymond Tsang, Mario Turri‐Zanoni, Pr. Benjamin Verillaud, Eric W. Wang, Christopher T. Wilke, Ian J. Witterick, Tae‐Bin Won, Dan P. Zandberg, Pete S. Batra, Edward C. Kuan   +56 more
wiley   +1 more source

Minutes of the Meeting of the Steering Group for National Breast Screening Programme

, 1997
Minutes of a meeting of the Steering Group for National Breast Screening Programme ...
National Breast Screening Group
core  

Association Between Genetic Ancestry and Multiple Sclerosis Severity

Annals of Neurology, EarlyView.
Objective The objective of this study was to determine whether genetic ancestry is associated with differences in the clinical course of multiple sclerosis (MS). Methods Participants with MS living in the United Kingdom >18 years old were recruited from 2021 to 2025 and genotyped from saliva using a commercial array. Genetic ancestry was inferred using
Benjamin M. Jacobs, Emily Tregaskis‐Daniels, Luisa Schalk, Jakub Nagrodski, ADAMS investigators, Michelle Peter, Rashmi Kaimal, Roxanne Murray, Sadid Hoque, Terri‐Louise Brown, Ghaniah Hassan‐Smith, Helen L. Ford, Bruno Gran, Karim L. Kreft, Cord Spilker, Outi Quinn, David Rog, Miriam Mattoscio, Elisa Visentin, Ramya Shamji, Grace Fawehinmi, Katila George, Maria Papachatzaki, Katharine Harding, Rod Middleton, Tarunya Arun, Waqar Rashid, Adil Harroud, Huw R. Morris, Eli Silber, Gavin Giovannoni, Alastair J. Noyce, Ruth Dobson   +32 more
wiley   +1 more source

Health‐related quality of life following total minimally invasive, hybrid minimally invasive or open oesophagectomy: a population‐based cohort study

BJS (British Journal of Surgery), EarlyView., 2020
All patients operated for oesophageal cancer in Sweden from 2013 to April 2018 were identified, and 246 patients were recruited to this population‐based nationwide Swedish study. The results show that longitudinal health‐related quality of life after minimally invasive oesophagectomy was similar to that of the open surgical approach.
F. Klevebro, J. H. Kauppila, S. Markar, A. Johar, P. Lagergren   +4 more
wiley   +1 more source

Screening of Drugs in Saliva

Medicinal & Analytical Chemistry International, 2017
openaire   +1 more source

Standards for Quality Assurance in Cervical Screening Quality Assurance in Primary Care and Other Cervical Screening Settings

, 2020
Programme operation includes: • Coverage standard, the definition of the screening population and of the recommended screening intervals • Processes for the identification of eligible women • The acquisition and update of the demographic details of ...
Irish Cervical Screening Programme (ICSP)
core  

Novel Interdigitated Electrode Conductometric Sensor for Rapid, Sensitive, and Selective Detection of cTnI Biomarkers in Saliva

Advanced NanoBiomed Research, EarlyView.
A miniaturized high resistivity silicon‐based interdigitated conductometric sensor detects cTnI at sub‐femtomolar levels with high selectivity. The device enables noninvasive testing using artificial and pooled human saliva in real‐time electrical readings. This portable biosensor offers a promising futuristic medical device providing new opportunities
Preethi Chidambaram, Fateme Akhlaghi Bagherjeri, Ganganath S. Perera, Rajour Tanyi Ako, Sreekanth S. P, Chenglong Xu, Sharath Sriram, Shanmuga Sundar Dhanabalan, Madhu Bhaskaran   +8 more
wiley   +1 more source