Results 131 to 140 of about 1,061,223 (312)

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

To Transplant or Not to Transplant: The Case of Cystic Fibrosis [PDF]

An organ transplantation rule is constructed with a special reference to the controversial procedure of transplantation of lung sections from living donors to cystic fibrosis patients.
Levy, Amnon
core  

Emergence of respiratory Streptococcus agalactiae isolates in cystic fibrosis patients

, 2009
Streptococcus agalactiae is a well-known pathogen for neonates and immunocompromized adults. Beyond the neonatal period, S. agalactiae is rarely found in the respiratory tract. During 2002–2008 we noticed S. agalactiae in respiratory secretions of 30/185
Vera Eickel, Brandt Claudia, Kahl, Barbara, Barbara Spellerberg, Reinisch Beatrice, Eickel, Vera, Angelika Dübbers, Eickel Vera, Peter Küster, Dübbers, Angelika, Brandt, Claudia, Küster Peter, Reinisch, Beatrice, Beatrice Reinisch, Dübbers Angelika, Spellerberg Barbara, Küster, Peter, Kahl Barbara, Barbara Kahl, Claudia Brandt, Spellerberg, Barbara   +20 more
core   +1 more source

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho, Alexis E. McFeely, Daniel Skinner, Shaoyan Zhang, Justin Hedvat, Weslee Ping‐ay, Daniel M. Beswick, Justin H. Turner, Bradford A. Woodworth, Jie Xu   +9 more
wiley   +1 more source

Molecular epidemiology of cystic echinococcosis

, 2003
Echinococcus granulosus exhibits substantial genetic diversity that has important implications for the design and development of vaccines, diagnostic reagents and drugs effective against this parasite.
McManus, D.P., Thompson, R.C.A., D. P. McMANUS, R. C. A. THOMPSON, McManus, D. P., Thompson, R. C. A.   +5 more
core   +1 more source

Duodenal Gastrointestinal Stromal Tumour—Mimicking a Cystic Lesion

The Surgery Journal
Although gastrointestinal stromal tumours (GISTs) mostly present as solid tumours, they may rarely manifest as cystic lesions. A 52-year-old man presented with a large globular lump in the supraumbilical region for 5 months. Triphasic CECT showed a large,
Niraj Kumar Srivastava, Somtirtha Ray, Amritanshu Saurabh, Sunita Singh, Shirish Kumar, Niraj Kumari   +5 more
doaj   +1 more source

Determining the Minimal Clinically Important Difference of the 40‐Item Smell Identification Test in People With Cystic Fibrosis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) and olfactory dysfunction (OD) are highly prevalent among people with cystic fibrosis (PwCF) and negatively impact quality of life. The 40‐item Smell Identification Test (SIT) is widely used to assess psychophysical olfaction, but a CF‐specific minimal clinically important difference (MCID) has not been ...
Eugene Oh, Jessa E. Miller, Michelle J. Lee, Anna Zemke, David Baraghoshi, Matthew J. Strand, Jeremiah A. Alt, Todd E. Bodner, Michael Chang, Naweed I. Chowdhury, Patricia H. Eshaghian, Anne E. Getz, Jennifer L. Goralski, David A. Gudis, Peter H. Hwang, Ashoke Khanwalkar, Adam J. Kimple, Jivianne T. Lee, Douglas A. Li, Jess C. Mace, Jayakar V. Nayak, Jonathan B. Overdevest, Zara Patel, Daniella K. Safatian, Rodney J. Schlosser, Brent Senior, Amanda L. Stapleton, Timothy L. Smith, Zachary M. Soler, Jeffrey D. Suh, Grant A. Turner, Marilene B. Wang, Milene T. Saavedra, Jennifer L. Taylor‐Cousar, Daniel M. Beswick   +34 more
wiley   +1 more source

National scientific associations should have a key role in adapting and implementing standard of care guidelines in European countries

, 2005
: Braggion C, Alatri F, Conese M, Festini F, Gagliardini R, Raia V, Seia M, Taccetti G; Executive Committee of the Italian Cystic Fibrosis Society.
RAIA, VALERIA, GAGLIARDINI R, FESTINI F, TACCETTI G, SEIA M, BRAGGION C, CONESE M, ALATRI F, EXECUTIVE COMMITTEE OF THE ITALIAN CYSTIC FIBROSIS SOCIETY   +8 more
core  

3‐Deoxy‐3‐Fluoro Mannuronic Acid Alginates: Stereoselective Automated Synthesis and Conformational Behaviour

Angewandte Chemie, EarlyView.
The impact of C‐3 fluorination on the synthesis and conformation of alginate oligosaccharides is investigated. A C‐3‐fluoro mannuronic acid building block is generated and shown to react with high β‐selectivity. Automated glycan assembly enables access to uniquely fluorinated mannuronic acid alginates where deoxyfluorination is shown not to perturb the
Sean T. Evans, Nishu Yadav, Wouter A. Remmerswaal, Daan Hoogers, Koen N. A. van de Vrande, Sarah Hosking, Ana Poveda, Jeroen D. C. Codée, Jesús Jiménez‐Barbero, Martina Delbianco, Gavin J. Miller   +10 more
wiley   +2 more sources