Results 51 to 60 of about 49,535 (243)

Building families—Implementing balanced sexual and reproductive health

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract One of the main initiatives of the World Health Organization (WHO) is the promotion of Sexual and Reproductive Health (SRH). Sexuality, infertility, and contraception are three interconnected pillars of SRH, each essential for achieving global equity in family planning and family building.
Peter Y. Liu, Edgar Mocanu, Linda Giudice, Marcos Horton, Meletios P. Nigdelis, Antti Perheentupa, Andrea Sansone, Giovanni Corona, Luca Gianaroli, Dimitrios G. Goulis   +9 more
wiley   +2 more sources

Genetic aspects of digestive diseases. Part 1

Терапевтический архив, 2010
The paper presents the data available in the literature on mutations in known genes in pancreatitis, such as cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor (PSTI/SPINK1), cystic fibrosis (CFTR), and apolipoprotein E (APOE) genes, as
Irina Nikolaevna Grigor'eva, Tat'yana Mikhaylovna Nikitenko, Aleksandr Vilenovich Tikhonov, Tat'yana Ivanovna Romanova, V N Maksimov, Elena Vladimirovna Shakhtshneyder, Sof'ya Konstantinovna Malyutina, Mikhail Ivanovich Voevoda, I N Grigoryeva, T M Nikitenko, A V Tikhonov, T I Romanova, V N Maksimov, E V Shakhtshneider, S K Malyutina, M I Voyevoda   +15 more
doaj  

The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients

Balkan Journal of Medical Genetics
Cystic fibrosis (CF) is a genetic disease characterized by a wide spectrum of severity, resulting from the inheritance of a mutant allele of the gene for cystic fibrosis transmembrane conductance regulator (CFTR).
Kasmi I, Kasmi G, Basholli B, Sefa HS, Vevecka E   +4 more
doaj   +1 more source

The prevalence of viral infections in children with cystic fibrosis in a tertiary care center in Saudi Arabia

International Journal of Pediatrics & Adolescent Medicine, 2020
Introduction: Studies have shown that pulmonary exacerbations in cystic fibrosis (CF) patients are associated with respiratory viruses. The most common agent causing viral infections in patients with CF before the age of 3 years is respiratory syncytial ...
Hanaa Banjar, Mohammad Chaballout, Kawthar Karkour, Hadeel Al-Ghamdi, Ibrahim Al-Mogarri, Sami Al-Haider, Imran Nizami, Rawia Raja, Ali AlNakhli   +8 more
doaj   +1 more source

Stimulation of salivary secretion in vivo by CFTR potentiators in Cftr+/+ and Cftr−/− mice [PDF]

, 2008
BackgroundPhysiologically, salivary secretion is controlled by cholinergic and adrenergic pathways but the role of ionic channels in this process is not yet clearly understood.
Strale, Pierre-Olivier, Mettey, Y, Rogier, C, Noël, Sabrina, Noel, S, DeJonge, Hugo, Dannhoffer, L, Rogier, Christian, Wilke, Martina, Becq, F, Dannhoffer, Luc, de Jonge, Hugo, Becq, Frédéric, Mettey, Yvette, Strale, PO   +14 more
core   +1 more source

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

CFTR

, 2021
What is ...
Melika Athari, Razieh Shahbazi, Yalda Tavangar, Marzieh Moeiodini
core   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

A randomised, double-blind, placebo-controlled trial of repeated nebulisation of non-viral cystic fibrosis transmembrane conductance regulator (CFTR) gene therapy in patients with cystic fibrosis

Efficacy and Mechanism Evaluation, 2016
Background: Cystic fibrosis (CF) is a chronic, life-limiting disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene leading to abnormal airway surface ion transport, chronic lung infections, inflammation and eventual ...
Eric WFW Alton, David K Armstrong, Deborah Ashby, Katie J Bayfield, Diana Bilton, Emily V Bloomfield, A Christopher Boyd, June Brand, Ruaridh Buchan, Roberto Calcedo, Paula Carvelli, Mario Chan, Seng H Cheng, David S Collie, Steve Cunningham, Heather E Davidson, Gwyneth Davies, Jane C Davies, Lee A Davies, Maria H Dewar, Ann Doherty, Jackie Donovan, Natalie S Dwyer, Hala I Elgmati, Rosanna F Featherstone, Jemyr Gavino, Sabrina Gea-Sorli, Duncan M Geddes, James SR Gibson, Deborah R Gill, Andrew P Greening, Uta Griesenbach, David M Hansell, Katharine Harman, Tracy E Higgins, Samantha L Hodges, Stephen C Hyde, Laura Hyndman, J Alastair Innes, Joseph Jacob, Nancy Jones, Brian F Keogh, Maria P Limberis, Paul Lloyd-Evans, Alan W Maclean, Michelle C Manvell, Dominique McCormick, Michael McGovern, Gerry McLachlan, Cuixiang Meng, M Angeles Montero, Hazel Milligan, Laura J Moyce, Gordon D Murray, Andrew G Nicholson, Tina Osadolor, Javier Parra-Leiton, David J Porteous, Ian A Pringle, Emma K Punch, Kamila M Pytel, Alexandra L Quittner, Gina Rivellini, Clare J Saunders, Ronald K Scheule, Sarah Sheard, Nicholas J Simmonds, Keith Smith, Stephen N Smith, Najwa Soussi, Samia Soussi, Emma J Spearing, Barbara J Stevenson, Stephanie G Sumner-Jones, Minna Turkkila, Rosa P Ureta, Michael D Waller, Marguerite Y Wasowicz, James M Wilson, Paul Wolstenholme-Hogg, on behalf of the UK Cystic Fibrosis Gene Therapy Consortium   +80 more
doaj   +1 more source

Pancreatitis in A Patient with Cystic Fibrosis Taking Ivacaftor

Children, 2020
Pancreatitis is rare in pancreatic insufficient cystic fibrosis patients. While pancreatic insufficiency has been considered irreversible until now, in the current era of new therapies with modulators of the Cystic Fibrosis Transmembrane Regulator CFTR ...
Argyri Petrocheilou, Athanasios G. Kaditis, Ioanna Loukou   +2 more
doaj   +1 more source