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Relevant bibliographies by topics / Cystic fibrosis; Genetic diseases

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Academic literature on the topic 'Cystic fibrosis; Genetic diseases'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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Journal articles on the topic "Cystic fibrosis; Genetic diseases"

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Shelby, Elena-Silvia, Florina Mihaela Nedelea, Tanser Huseyinoglu, Relu Cocos, Mihaela Badina, Corina Sporea, Liliana Padure, and Andrada Mirea. "Innovative therapies in genetic diseases: Cystic fibrosis." Romanian Journal of Pediatrics 70, no. 1 (March 31, 2021): 16–20. http://dx.doi.org/10.37897/rjp.2021.1.3.

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Cystic fibrosis, also named mucoviscidosis, is the most frequent hereditary pulmonary disease and is produced by mutations in the CFTR gene, encoding an anionic channel for chloride and bicarbonate involved in the regulation of salt and bicarbonate metabolisms. Currently, about half of the patients with cystic fibrosis can benefit personalized therapy consisting in modulators, drugs which restore or improve the functionality and stability of CFTR. Moreover, presently, other therapies, such as gene therapy using the CRISP/CAS-9, modified antisense oligonucleotides or the insertion of the wild-type gene using nanolipidic particles or viral vectors, are being developed. This article aims to take stock of the principal types of cystic fibrosis therapies which have been approved or are in clinical trials.

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Chiriac, Anca, Laura Trandafir, Cristian Podoleanu, and Simona Stolnicu. "Cutaneous Manifestations of Cystic Fibrosis." Journal of Interdisciplinary Medicine 3, no. 1 (March 1, 2018): 39–44. http://dx.doi.org/10.2478/jim-2018-0005.

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Abstract Cystic fibrosis (CF) is an autosomal recessive affliction triggered by genetic mutations in the cystic fibrosis transmembrane conductance regulator. The lung and pancreas are the most frequently affected organs in cystic fibrosis, cutaneous involvement is undervalued and underdiag-nosed. Skin lesions observed in patients diagnosed with cystic fibrosis are not well known and can create confusions with other dermatological diseases. The diagnosis of cutaneous lesions as signs of cystic fibrosis by pediatricians or dermatologists, despite their overlapping with different nutritional deficiencies, would allow earlier diagnosis and proper treatment and could improve quality of life and outcomes.

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Biazotti, Maria Cristina Santoro, Walter Pinto Junior, Maria Cecília Romano Maciel de Albuquerque, Litsuko Shimabukuro Fujihara, Cláudia Haru Suganuma, Renata Bednar Reigota, and Carmen Sílvia Bertuzzo. "Preimplantation genetic diagnosis for cystic fibrosis: a case report." Einstein (São Paulo) 13, no. 1 (March 2015): 110–13. http://dx.doi.org/10.1590/s1679-45082015rc2738.

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Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing obstructive azoospermia and male infertility. Preimplantation genetic diagnosis is an alternative that allows identification of embryos affected by this or other genetic diseases. We report a case of couple with cystic fibrosis; the woman had the I148 T mutation and the man had the Delta F508 gene mutation. The couple underwent in vitro fertilization, associated with preimplantation genetic diagnosis, and with subsequent selection of healthy embryos for uterine transfer. The result was an uneventful pregnancy and delivery of a healthy male baby.

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Al Arrayed, S. S. "Review of the spectrum of genetic diseases in Bahrain." Eastern Mediterranean Health Journal 5, no. 6 (December 15, 1999): 1114–20. http://dx.doi.org/10.26719/1999.5.6.1114.

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This paper looks at some of the studies on genetic disorders conducted in Bahrain. The disorders covered include: genetic blood disorders, metabolic disorders, chromosomal disorders, including Down syndrome, and cystic fibrosis. The rate of consanguinity in Bahrain and the results of premarital counselling are also discussed

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Saračević, Ediba, and Amira Redžić. "Genetic Examination of Children Suffering from Cystic Fibrosis." Bosnian Journal of Basic Medical Sciences 5, no. 1 (February 20, 2005): 69–71. http://dx.doi.org/10.17305/bjbms.2005.3338.

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CFTR protein (cystic fibrosis trans membrane conductance regulator) is expressed in multiple epithelial tissues, including upper and lower respiratory tracts, pancreas, sweat glands and gastrointestinal tract. More than 800 mutations and 100 polymorphic variants of DNA sequences were identified in patients with CF (Cystic fibrosis) and CFTR- diseases. In this study, genetic CFTR analysis of the children suffering from chronic lung disease (cystic fibrosis) is presented. They are treated and regularly controlled at the Pediatric hospital Sarajevo. CFTR analysis was done in 9 cases, 4 boys (44.4%) and 5 girls (55.55%). There are 3 children (33.3%) in the age group 1 to 3 years, 1 child (11.1%) in the age group 3 to 6 years, 3 children (33.3%) in the age group 6 to 9 years and 2 children (22.2%) in the age group 9 to 12 years. Genetic analysis was conducted at the Medical center for molecular biology School of Medicine, Ljubljana. PCR method with PAGE and direct sequestration on ABI PRISM 31 was applied. The majority of children (7 children, i.e. 7777%) had CFTR mutation Δ F 508 whilst one child had G542X mutation and one child R1174 mutation. The purpose of this study is to emphasize the need for CFTR gene identification in the institutes of our country.

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Patel, Sheylan D., Taylor R. Bono, Steven M. Rowe, and George M. Solomon. "CFTR targeted therapies: recent advances in cystic fibrosis and possibilities in other diseases of the airways." European Respiratory Review 29, no. 156 (June 16, 2020): 190068. http://dx.doi.org/10.1183/16000617.0068-2019.

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Cystic fibrosis transmembrane conductance regulator (CFTR) is an ion transporter that regulates mucus hydration, viscosity and acidity of the airway epithelial surface. Genetic defects in CFTR impair regulation of mucus homeostasis, causing severe defects of mucociliary clearance as seen in cystic fibrosis. Recent work has established that CFTR dysfunction can be acquired in chronic obstructive pulmonary disease (COPD) and may also contribute to other diseases that share clinical features of cystic fibrosis, such as asthma, allergic bronchopulmonary aspergillosis and bronchiectasis. Protean causes of CFTR dysfunction have been identified including cigarette smoke exposure, toxic metals and downstream effects of neutrophil activation pathways. Recently, CFTR modulators, small molecule agents that potentiate CFTR or restore diminished protein levels at the cell surface, have been successfully developed for various CFTR gene defects, prompting interest in their use to treat diseases of acquired dysfunction. The spectrum of CFTR dysfunction, strategies for CFTR modulation, and candidate diseases for CFTR modulation beyond cystic fibrosis will be reviewed in this manuscript.

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Pretto, Luana, Fernanda de-Paris, Alice Beatriz Mombach Pinheiro Machado, Andreza Francisco Martins, and Afonso Luís Barth. "Genetic similarity of Burkholderia cenocepacia from cystic fibrosis patients." Brazilian Journal of Infectious Diseases 17, no. 1 (January 2013): 86–89. http://dx.doi.org/10.1016/j.bjid.2012.09.002.

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Antonova, E. A., A. V. Goryainova, S. Yu Semykin, and T. A. Filatova. "The spectrum of sensitization of children with cystic fibrosis." Experimental and Clinical Gastroenterology, no. 11 (November 20, 2019): 89–92. http://dx.doi.org/10.31146/1682-8658-ecg-171-11-89-92.

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Cystic fibrosis is a hereditary disease that affects the quality of life of patients without proper treatment. It has been established that allergic diseases have become a global public health problem. Due to a variety of clinical manifestations that affect the development, health and quality of life, it is difficult to diagnose. Due to the high incidence of allergic problems, there is the problem of interrelationship of hereditary genetic diseases - cystic fibrosis and spectral sensitization of children suffering from morbidity in order to improve the algorithms, improve the condition and quality of life of patients, due to the appointment of proper diet therapy.

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Markossian, Sarine, Kenny K. Ang, Christopher G. Wilson, and Michelle R. Arkin. "Small-Molecule Screening for Genetic Diseases." Annual Review of Genomics and Human Genetics 19, no. 1 (August 31, 2018): 263–88. http://dx.doi.org/10.1146/annurev-genom-083117-021452.

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The genetic determinants of many diseases, including monogenic diseases and cancers, have been identified; nevertheless, targeted therapy remains elusive for most. High-throughput screening (HTS) of small molecules, including high-content analysis (HCA), has been an important technology for the discovery of molecular tools and new therapeutics. HTS can be based on modulation of a known disease target (called reverse chemical genetics) or modulation of a disease-associated mechanism or phenotype (forward chemical genetics). Prominent target-based successes include modulators of transthyretin, used to treat transthyretin amyloidoses, and the BCR-ABL kinase inhibitor Gleevec, used to treat chronic myelogenous leukemia. Phenotypic screening successes include modulators of cystic fibrosis transmembrane conductance regulator, splicing correctors for spinal muscular atrophy, and histone deacetylase inhibitors for cancer. Synthetic lethal screening, in which chemotherapeutics are screened for efficacy against specific genetic backgrounds, is a promising approach that merges phenotype and target. In this article, we introduce HTS technology and highlight its contributions to the discovery of drugs and probes for monogenic diseases and cancer.

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Montgomery, Samuel T., Marcus A. Mall, Anthony Kicic, and Stephen M. Stick. "Hypoxia and sterile inflammation in cystic fibrosis airways: mechanisms and potential therapies." European Respiratory Journal 49, no. 1 (December 23, 2016): 1600903. http://dx.doi.org/10.1183/13993003.00903-2016.

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Cystic fibrosis is one of the most common autosomal recessive genetic diseases in Caucasian populations. Diagnosisvianewborn screening and targeted nutritional and antibiotic therapy have improved outcomes, however respiratory failure remains the key cause of morbidity and mortality. Progressive respiratory disease in cystic fibrosis is characterised by chronic neutrophilic airway inflammation associated with structural airway damage leading to bronchiectasis and decreased lung function. Mucus obstruction is a characteristic early abnormality in the cystic fibrosis airway, associated with neutrophilic inflammation often in the absence of detectable infection. Recent studies have suggested a link between hypoxic cell death and sterile neutrophilic inflammation in cystic fibrosis and other diseasesviathe IL-1 signalling pathway. In this review, we consider recent evidence regarding the cellular responses to respiratory hypoxia as a potential driver of sterile neutrophilic inflammation in the lung, current knowledge on hypoxia as a pathogenic mechanism in cystic fibrosis and the potential for current and future therapies to alleviate hypoxia-driven sterile inflammation.

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Dissertations / Theses on the topic "Cystic fibrosis; Genetic diseases"

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Darrah, Rebecca J. "Genetic Modifiers of Cystic Fibrosis Pulmonary Disease." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1270133199.

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Hedgecoe, Adam Michael. "Narratives of geneticization : cystic fibrosis, diabetes and schizophrenia." Thesis, University College London (University of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.324672.

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Romano, Pascale Renee. "Cell-specific expression of the multidrug resistance genes." Thesis, University of Oxford, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.339300.

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Walker, Jennifer Harriet. "The production, and characterisation of monoclonal, polyclonal and phage display antibodies to the cystic fibrosis transmembrane regulator." Thesis, University of Bristol, 1994. http://hdl.handle.net/1983/e64704e1-ced9-4cd9-a358-d6cab313ed52.

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Limberis, Maria. "A lentiviral gene transfer vector for the treatment of cystic fibrosis airway disease." Title page, synopsis and list of contents only, 2002. http://web4.library.adelaide.edu.au/theses/09PH/09phl735.pdf.

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"16th September 2002." Accompanying CD contains 2 MPEG clips with accompanying text, and a copy in PDF format of: Recovery of airway cystic fibrosis transmembrane conductance regulator function in mice with cystic fibrosis after single-dose lentivirus-mediated gene transfer / M. Limberis ... [et al.], published in Human gene therapy vol. 13 (2002). Bibliography: leaves xxix-li. This thesis focuses on modulating the physical barriers of the airway epithelium with mild detergents, so as to enhance gene transfer by a HIV-1 based lentivirus vector in vivo. The efficiency of the gene transfer was evaluated in the nasal airway of C57B1/6 mice using the Lac Z marker gene. This demonstration of lentivirus-mediated in vivo recovery of CFTR function in CF airway epithelium illustrated the potential of combining a pre-conditioning of the airway surface with a simple and brief HIV-1 based gene transfer vector exposure to produce therapeutic gene expression in the intact airway.

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Gu, Yuanyuan. "Immunobiology of IFRD1, a Novel Genetic Modifier of Cystic Fibrosis Lung Disease." University of Cincinnati / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1247935975.

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Hillian, Antoinette D. "Interleukin-8 as a genetic modifier and pharmacologic target for cystic fibrosis pulmonary disease." Case Western Reserve University School of Graduate Studies / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=case1244177510.

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Shao, Jing. "Association of polymorphisms in the glutamate cysteine ligase catalytic subunit gene and glutathione-S-transferase genes with fibrotic lung diseases /." Thesis, Connect to this title online; UW restricted, 2003. http://hdl.handle.net/1773/8452.

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Frangolias, Despina Daisy. "Candidate genes other than the CFTR gene as possible modifiers of pulmonary disease severity in cystic fibrosis." Thesis, University of British Columbia, 2008. http://hdl.handle.net/2429/527.

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Cystic fibrosis (CF) is a single gene Mendelian disorder characterized by pulmonary disease and pancreatic insufficiency. Pulmonary disease is the major cause of death in CF patients. Although some cystic fibrosis transmembrane conductance regulator (CFTR) genotypes are associated with less severe disease, patients possessing the same genotype show great variation in pulmonary disease severity and progression. Genes involved in modulating the inflammatory response and genes increasing susceptibility to infection are proposed as modifiers of pulmonary disease severity. Polymorphisms selected for based on evidence that they affect the function of the gene and prevalence of the putative risk allele: 1) antiprotease gene alpha-1-antitrypsin (alpha-1-AT), 2) innate immunity genes: mannose binding lectin (MBL2) (promoter [G→C] at -221 and codon 52 (Arg52Cys, D allele), 54 (Gly54Asp, B allele), and 57 (Gly57Glu, C allele), and pulmonary surfactant genes SPA-1 (Arg219Trp), SPA-2 (Thr9Asn, Lys223Gln) and SPD (Thr11Met), 3) antioxidant genes GSTM1 and T1 (gene deletion polymorphisms), GSTP1 (Ile105Val) and GCLC repeats, 4) mucin genes (MUC2 and MUC5B). Pulmonary disease progression and survival in patients with chronic Burkholderia cepacia complex (BCC) infection were also investigated controlling for genomovar and RAPD type of the organism. BCC infection was associated with more severe pulmonary disease progression and worse survival. Alpha-1-AT genotype was not a major contributor to variability of pulmonary disease severity, but the results suggest that alpha-1-AT plasma levels during pulmonary infections may be affected by poor nutritional status. We showed similar pulmonary disease progression and MBL2 genotype. Contrary to the previous literature, wild-type MBL2 genotype was associated with steeper decline in pulmonary disease over time following chronic infection with BCC, but genotype was not associated with increased susceptibility to BCC infection. We showed inconsistant results for the pulmonary surfactant gene polymorphisms, GSTM1, T1 and GSTP1 polymorphisms, and number of repeats for GCLC and MUC5B depending on the phenotype investigated. We conclude that some of the variability in pulmonary disease severity and progression in CF is explained by polymorphisms in secondary genes.

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Castaing, Pauline. "Survenue de grossesses chez les femmes atteintes de mucoviscidose : spécificités démographiques et sanitaires." Thesis, Bordeaux, 2017. http://www.theses.fr/2017BORD0740/document.

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Concernant près de 7000 personnes en France, la mucoviscidose est une maladie génétique évolutive dont les atteintes sont multiples. Ces dernières décennies, l’amélioration de la prise en charge des malades a permis de faire évoluer leur durée de vie, et donc d’augmenter la part d’adultes dans la population touchée. Cela a naturellement amené à de nouvelles problématiques concernant la vie des malades, notamment en termes de procréation. A partir des données du Registre Français de la Mucoviscidose récoltées entre 1992 et 2011, ce travail avait d’une part pour objectif d’étudier la fécondité de cette population et de mieux cerner les caractéristiques des femmes atteintes de la maladie, et d’autre part d’identifier les interactions se jouant entre la mucoviscidose et la survenue d’une grossesse. Les résultats ont montré un certain décalage entre la fécondité de la population française générale et celle de la population malade, expliqué en partie par la jeunesse des patientes et leurs comportements conjugaux et scolaires. Une étude de leurs caractéristiques a permis de mettre en évidence l’évolution du nombre de femmes suivies chaque année et leur avancée en âge, mais également l’amélioration de leur état de santé et de l’offre de soin qui leur est proposée. Des analyses multi-variées ont permis par la suite de distinguer les caractéristiques les plus prédictives de la survenue d’une première grossesse : si certaines variables médicales apparaissent significatives, la plupart sont d’ordre sociodémographique. Enfin, ces analyses ont pu mettre en avant le fait que l’effet à court terme de la grossesse sur l’état de santé des patientes n’apparait pas de façon évidente, et lorsqu’il apparaît, reste modeste ; mais également que les modalités du déroulé de la grossesse peuvent avoir un impact sur la santé de la mère.Mots clés : Mucoviscidose, grossesse, fécondité, maladie génétique
Cystic fibrosis is a progressive genetic disease with multiple levels of harm that affects nearly 7000 people in France. Over the last decades, health care improvements has led to an increase in patients’ life expectancy and hence the proportion of adults in the affected population. This has naturally led to new issues relative to the life of patients, notably procreation. Data from the French Cystic Fibrosis Register recorded between 1992 and 2011 were used in this work, firstly to study the fertility of that population and to pinpoint the characteristics of female patients, secondly to identify any interaction between cystic fibrosis and the occurrence of pregnancy. Results showed a discrepancy between the fertility of general French population and that of the patients, which is partly explained when considering the young age of the patients and their conjugal and school behaviour. By studying their characteristics, an increase in both the age and the number of women being followed, as well as an improvement in their health and the treatments provided to them are observed. In the following multivariate analyses single out the most predictive characteristics of the occurrence of first pregnancy: while some medical variables appear to be significant, most of those are socio-demographic. Finally, those analyses showed that the short-term effect of pregnancy on the patients’ state of health does not appear to be evident and remains low when it occurs ; however specific modalities or events throughout the course of the pregnancy could have an impact on the mother’s health

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Books on the topic "Cystic fibrosis; Genetic diseases"

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Cunningham, James C. An introduction to cystic fibrosis for patients and families. 5th ed. Bethesda, MD: Cystic Fibrosis Foundation, 2003.

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Cunningham, James C. An introduction to cystic fibrosis for patients and families. 4th ed. Bethesda, MD: Cystic Fibrosis Foundation, 1999.

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Wackym, Phillip A. Molecular temporal bone pathology, parts III and IV. Philadelphia, PA: Lippincott-Raven, 1998.

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Copyright Paperback Collection (Library of Congress), ed. The changeling plague. New York: Roc, 2003.

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Gregory, Pemberton Stephen, ed. The troubled dream of genetic medicine: Disease and ethnicity in Tay-Sachs, cystic fibrosis, and sickle cell disease. Baltimore: Johns Hopkins University Press, 2006.

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Wailoo, Keith. The troubled dream of genetic medicine: Ethnicity and innovation in Tay-Sachs, cystic fibrosis, and sickle cell disease. Baltimore: Johns Hopkins University Press, 2006.

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Genetic Disorders Sourcebook: Basic Consumer Health Information About Hereditary Diseases and Disorders, Including Cystic Fibrosis, Down Syndrome, Hemophilia, ... Disease (Health Reference Series). 2nd ed. Detroit, Mich.: Omnigraphics, 2000.

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Byrnes, Isabel Stenzel. The power of two: A twin triumph over cystic fibrosis. Columbia: University of Missouri Press, 2007.

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Giddings, Sharon. Cystic fibrosis. New York: Chelsea House, 2009.

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The birth of a genetics policy: Social issues of newborn screening. Farnham, Surrey: Ashgate, 2013.

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Book chapters on the topic "Cystic fibrosis; Genetic diseases"

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Moninger, Thomas O., Randy A. Nessler, and Kenneth C. Moore. "Applications of Microscopy to Genetic Therapy of Cystic Fibrosis and Other Human Diseases." In Cell Imaging Techniques, 153–63. Totowa, NJ: Humana Press, 2006. http://dx.doi.org/10.1007/978-1-59259-993-6_7.

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Chen, Harold. "Cystic Fibrosis." In Atlas of Genetic Diagnosis and Counseling, 715–30. New York, NY: Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_63.

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Chen, Harold. "Cystic Fibrosis." In Atlas of Genetic Diagnosis and Counseling, 1–16. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_63-2.

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Ratjen, Felix, and María Ester Pizarro Gamboa. "Cystic Fibrosis: Treatment." In Pediatric Respiratory Diseases, 453–66. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-26961-6_45.

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Shinkai, Masaharu. "Cystic Fibrosis, Primary Ciliary Dyskinesia, and Diffuse Panbronchiolitis: Hereditary and Non-hereditary—What Are the Roles of Genetic Factors in the Pathogenesis of These Diseases?" In Respiratory Disease Series: Diagnostic Tools and Disease Managements, 93–106. Singapore: Springer Singapore, 2018. http://dx.doi.org/10.1007/978-981-10-8144-6_6.

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Tümmler, B. "Genetics and Molecular Pathology of Cystic Fibrosis." In Pancreatic Disease, 167–79. Berlin, Heidelberg: Springer Berlin Heidelberg, 1999. http://dx.doi.org/10.1007/978-3-642-60068-5_17.

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Verma, Pritt, Vishal Kumar Vishwakarma, Shravan Kumar Paswan, Ch V. Rao, and Sajal Srivastava. "Cystic Fibrosis: Biology and Therapeutics." In Chronic Lung Diseases, 61–74. Singapore: Springer Singapore, 2020. http://dx.doi.org/10.1007/978-981-15-3734-9_3.

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Estivill, Xavier, Teresa Casals, and Virginia Nunes. "Genetic Analysis of Cystic Fibrosis." In Advances in Experimental Medicine and Biology, 31–38. Boston, MA: Springer US, 1991. http://dx.doi.org/10.1007/978-1-4684-5934-0_4.

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Light, Michael J., Richard B. Moss, and Terence M. Davidson. "Sinus Disease in Cystic Fibrosis." In Diseases of the Sinuses, 357–65. Totowa, NJ: Humana Press, 1996. http://dx.doi.org/10.1007/978-1-4612-0225-7_18.

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Feldman, Gerald L., and Kristin G. Monaghan. "Prenatal Diagnosis of Cystic Fibrosis." In Genetic Disorders and the Fetus, 577–99. Oxford, UK: Wiley-Blackwell, 2010. http://dx.doi.org/10.1002/9781444314342.ch17.

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Conference papers on the topic "Cystic fibrosis; Genetic diseases"

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Polineni, Deepika, Lisa Jones, Leah Commander, Michael P. Boyle, James Chmiel, Jeanne Krenicky, Julie Avolio, et al. "Complementary Genomic And Gene Expression Studies To Define Genetic Modifiers Of Cystic Fibrosis Lung Disease Severity." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a1824.

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Polineni, Deepika, Xueliang Guo, Lisa C. Jones, Anthony T. Dang, Michael P. Boyle, James F. Chmiel, Peter R. Durie, Mitchell L. Drumm, Wanda K. O'Neal, and Michael R. Knowles. "Interleukin 8 (IL8) Expression In Nasal Epithelia Is Correlated With A Genetic Variant In The IL8 Promoter Associated With Cystic Fibrosis Lung Disease Severity." In American Thoracic Society 2012 International Conference, May 18-23, 2012 • San Francisco, California. American Thoracic Society, 2012. http://dx.doi.org/10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a5354.

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Levy, Hara, Greta Linse, Kaitlyn Schneck, Melissa Reske, Mary Kadunski, Shuang Jia, Christophe Lambert, and Martin Hessner. "Integration Of Genomics With Genetics—molecular Phenotypes For Cystic Fibrosis (CF) Lung Disease." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a6577.

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Bernstein, MA, A. Grunin, V. Albit, E. Luder, A. Ting, and S. Dua. "Genetic and Clinical Characteristics of New York Hispanics with Cystic Fibrosis." In American Thoracic Society 2009 International Conference, May 15-20, 2009 • San Diego, California. American Thoracic Society, 2009. http://dx.doi.org/10.1164/ajrccm-conference.2009.179.1_meetingabstracts.a1782.

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Healy, Fiona M., Kai Wang, Julian L. Allen, and Hakon Hakonarson. "Genetic, Genomic And Clinical Characterization Of Cystic Fibrosis In A Pediatric Population." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a5722.

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Yoshimura, Kunihiko, Chieko Anzai, Miho Ejima, Yu Tsujikawa, and Ko Maniwa. "Genetic Analysis Of The CFTR Gene Mutations In Japanese Patients With Cystic Fibrosis." In American Thoracic Society 2012 International Conference, May 18-23, 2012 • San Francisco, California. American Thoracic Society, 2012. http://dx.doi.org/10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a5260.

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Stahl, Mirjam, Cornelia Joachim, Tatjana Uselmann, Yin Yu, Ines Kirsch, Christiane Berger, Cornelia Stolpe, et al. "Multicenter feasibility of lung clearance index in preschool children with cystic fibrosis and other lung diseases." In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.356.

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Sasaki, Erina, Marija Kostocenko, Niamh Lang, Tara Clarke, Melissa Rogers, Rebecca Muldowney, Alana Ward, David Barton, and Sally Ann Lynch. "OC27 National newborn screening for cystic fibrosis: genetic data from the first 6 years." In Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.26.

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Gregoire, Marie-Claude, Walter Robinson, Thomas Lahiri, and Gordon A. Finley. "What Do You Mean By "Dyspnea" Dyspnea Descriptors In Adolescents With Cystic Fibrosis, Asthma Or No Respiratory Diseases." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a5817.

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Pett, Ryan G., Courtney M. Wheatley, Mary A. Morgan, Eric C. Wong, William T. Foxx-Lupo, Cori L. Daines, Wayne Morgan, and Eric M. Snyder. "Influence Of Genetic Variation Of The Alpha-Subunit Of Enac On Lung Diffusion In Patients With Cystic Fibrosis." In American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado. American Thoracic Society, 2011. http://dx.doi.org/10.1164/ajrccm-conference.2011.183.1_meetingabstracts.a1120.

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Reports on the topic "Cystic fibrosis; Genetic diseases"

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Taub, Daniel, and Joshua Page. Cystic Fibrosis: Exploration of Evolutionary Explanations for the High Frequency of a Common Genetic Disorder. Genetics Society of America Peer-Reviewed Education Portal (GSA PREP), October 2013. http://dx.doi.org/10.1534/gsaprep.2013.004.

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