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1

Love, Cynthia B. Genetic testing for cystic fibrosis : January 1989 through February 1997 : 1224 citations. Bethesda, Md. (8600 Rockville Pike, Bethesda 20894) : U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, National Library of Medicine, Reference Section, 1997.

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2

United States. Congress. Senate. Committee on Small Business. Research on childhood diseases by entrepreneurs : Hearing before the Committee on Small Business, United States Senate, One Hundred Third Congress, second session ... Thursday, May 26, 1994. Washington : U.S. G.P.O., 1995.

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3

United States. Congress. Senate. Committee on Small Business. Research on childhood diseases by entrepreneurs : Hearing before the Committee on Small Business, United States Senate, One Hundred Third Congress, second session ... Thursday, May 26, 1994. Washington : U.S. G.P.O., 1995.

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4

Skypala, Isabel. Eating well with cystic fibrosis. Bromley : Cystic Fibrosis Trust, 1994.

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5

Tsui, Lap-Chee, Giovanni Romeo, Rainer Greger et Sergio Gorini, dir. The Identification of the CF (Cystic Fibrosis) Gene. Boston, MA : Springer US, 1991. http://dx.doi.org/10.1007/978-1-4684-5934-0.

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6

Ferguson, Kate. The physical treatment of cystic fibrosis. Bromley : Cystic Fibrosis Trust, 1995.

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7

Mofford, K. A. Preclinical studies in DNA/liposome gene transfer for cystic fibrosis. Oxford : Oxford Brookes University, 1996.

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8

MacDonald, Anita. Eating well with cystic fibrosis : A guide for children and parents. Bromley : Cystic Fibrosis Trust, 1996.

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9

Genetic Analysis Workshop (6th 1988 Long Beach, Miss.). Multipoint mapping and linkage based upon affected pedigree members : Genetic Analysis Workshop 6, proceedings of a workshop held at Gulf Park, Long Beach, Mississippi, October 10-12, 1988. Sous la direction de Elston Robert C. 1932-. New York : Liss, 1988.

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10

Duguay, François. Use of the Xenopus oocyte as a potential expression system for the cystic fibrosis gene. Ottawa : National Library of Canada = Bibliothèque nationale du Canada, 1991.

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11

Li, Xiaobin. Characterization of multiple copies of a DNA segment containing cystic fibrosis transmembrane conductance regulator gene exon 9 in the human genome. Ottawa : National Library of Canada, 1999.

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12

Evert, Alison B., et Marion J. Franz. American Diabetes Association guide to medical nutrition therapy for diabetes. 2e éd. Alexandria, Va : American Diabetes Association, 2012.

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13

Lee, Benjamin Haeyul. Gene delivery to human sweat glands : A model for cystic fibrosis gene therapy. 2006.

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14

Ryan, Jeanne. Charisma. Simon & Schuster, Limited, 2016.

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15

Ryan, Jeanne. Charisma. 2015.

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16

Sayer, John A., et Roslyn J. Simms. Nephronophthisis. Sous la direction de Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0317_update_001.

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Nephronophthisis (NPHP) is a clinically heterogeneous autosomal recessive cystic kidney disease and the leading genetic cause of end-stage renal failure in children and young adults. Whilst enlarged dysplastic cystic kidneys are associated with infantile NPHP, more typically renal ultrasound reveals normal kidney size and corticomedullary cysts in a child with polyuria and secondary enuresis. Extrarenal manifestations occur in 10–15% including retinal degeneration, cerebellar vermis hypoplasia and liver fibrosis, requiring referral to other specialists. Mutations in 18 genes have been identified to cause NPHP, but a genetic diagnosis still cannot be found in many patients. NPHP is classified as a ciliopathy because of the localization of the protein products of the associated genes. Currently there is no specific therapy for NPHP.
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17

National Heart, Lung, and Blood Institute, dir. Facts about cystic fibrosis. [Bethesda, Md : National Institutes of Health, National Heart, Lung, and Blood Institute, 1995.

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18

Thursfield, Rebecca, Chris Orchard, Rosanna Featherstone et Jane C. Davies. Future treatments. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780198702948.003.0013.

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There are only a relatively limited armoury of drugs, the majority of which are aimed at downstream symptoms of cystic fibrosis. Therapies targeting the basic defect in CF as well as continued availability of more conventional drugs are required. Progress in gene therapy has been limited by the significant barriers to gene transfer of the CF lung, but the UK is hosting a large repeated dose trial of nebulized non-viral gene therapy designed around clinically meaningful outcomes. The UK CF Gene Therapy Consortium is also seeking to develop a promising modified lentiviral approach, although this is some years off. Perhaps the exciting development of recent decades has come from small molecule CFTR modulators, driven by an understanding of basic pathophysiological mechanisms. Ivacaftor is the first drug to be licensed, having proved itself highly clinically efficacious in patients with the class-3 gating mutation G551D. The trial pipeline seeks to expand indications for this and to explore the potential of Phe508del correctors. Finally, a number of anti-inflammatory and anti-infective strategies are being pursued. The emerging global problem of antibiotic resistance is leading to exciting alternatives such as biofilm disruption and bacteriophage to be explored.
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19

Beattie, R. Mark, Anil Dhawan et John W.L. Puntis. Cystic fibrosis. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569862.003.0021.

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Gastrointestinal manifestations 156Management of gastrointestinal symptoms in children with CF 158Nutrition in CF 158Nutritional management 159Vitamins 160The incidence of cystic fibrosis (CF) is around 1 in 2500. Cases are diagnosed as a consequence of population screening or high-risk screening, or following presentation with clinical symptoms typical of the disorder. The basic defect is in the CFTR (cystic fibrosis transmembrane conductance regulator) protein which codes for a cyclic adenosine monophosphate-regulated chloride transporter in epithelial cells of exocrine organs. This is involved in salt and water balance across epithelial surfaces. The gene is on chromosome 7. There are multiple known mutations, the most common being ...
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20

Lap-Chee, Tsui, dir. The Identification of the CF (cystic fibrosis) gene : Recent progress and new research strategies. New York : Plenum Press, 1991.

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21

Orenstein, David Michael, Robert C. Stern et Beryl J. Rosenstein. Cystic Fibrosis : Medical Care. Lippincott Williams & Wilkins, 2000.

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22

(Editor), Lap-Chee Tsui, Giovanni Romeo (Editor), Rainer Greger (Editor) et Sergio Gorini (Editor), dir. The Identification of the CF (Cystic Fibrosis) Gene : Recent Progress and New Research Strategies (Advances in Experimental Medicine and Biology). Springer, 1991.

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23

Watson, Ronald Ross. Diet and Exercise in Cystic Fibrosis. Elsevier Science & Technology Books, 2014.

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24

Molecular Basis and Gene Therapies of Cystic Fibrosis. MDPI, 2020. http://dx.doi.org/10.3390/books978-3-03943-684-2.

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25

Beattie, R. Mark, Anil Dhawan et John W.L. Puntis. Cystic fibrosis-associated liver disease. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569862.003.0022.

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Pathophysiology 162Clinical features 162Diagnosis 163Management 164Cystic fibrosis (CF) is an autosomal recessive disease resulting from mutations in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) (see Chapter 21). CFTR functions as a transmembrane chloride channel in the apical membrane of most secretory epithelia and the disease thus affects lungs, pancreas, exocrine glands, gut, and liver. In CF-associated liver disease the biliary tract is most commonly involved in a spectrum from asymptomatic to biliary cirrhosis. The liver disease runs from mild and subclinical to severe cirrhosis and portal hypertension. Clinical disease is seen in 4–6% of cases, but there are biochemical abnormalities in 20–50%. At autopsy, fibrosis is present in 20% and steatosis in 50%....
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26

US GOVERNMENT. Cystic Fibrosis and DNA Tests : Implications of Carrier Screening. Office of Technology Assessment, 1992.

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27

United States. Congress. Office of Technology Assessment., dir. Cystic fibrosis and DNA tests : Implications of carrier screening. Washington, DC : Congress of the U.S., Office of Technology Assessment, 1992.

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28

Riordan, John R., Paul M. Quinton et Richard C. Boucher. Cystic Fibrosis : A Trilogy of Biochemistry, Physiology, and Therapy. Cold Spring Harbor Laboratory Press, 2013.

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29

Carsten, Schultz, dir. Defects of secretion in cystic fibrosis. New York : Springer, 2005.

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30

1945-, Orenstein David M., et Stern Robert C. 1938-, dir. Treatment of the hospitalized cystic fibrosis patient. New York : M. Dekker, 1998.

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31

United States. Congress. Office of Technology Assessment., dir. Cystic fibrosis and DNA tests : Implications of carrier screening : summary. Washington, D.C : Congress of the U.S., Office of Technology Assessment, 1992.

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32

Kriemler, Susi. Exercise, physical activity, and cystic fibrosis. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199232482.003.0033.

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Cystic fibrosis (CF) is the most common genetic autosomal recessive disease of the Caucasian race, generally leading to death in early adulthood.1 The frequency of the gene carrier (heterozygote) is 1:20–25 in Caucasian populations, 1:2000 in African-Americans, and practically non-existent in Asian populations. The disease occurs in about 1 in every 2500 life births of the white population. Mean survival has risen from 8.4 years in 1969 to 32 years in 2000 due to improvements in treatment. The genetic defect causes a pathological electrolyte transport through the cell membranes by a defective chloride channel membrane transport protein [cystic fibrosis transmembrane conductance regulator (CFTR)]. With respect to the function, this affects mainly the exocrine glands of secretory cells, sinuses, lungs, pancreas, liver, and the reproductive tract of the human body leading to a highly viscous, water-depleted secretion. The secretion cannot leave the glands and in consequence causes local inflammation and destruction of various organs. The main symptoms include chronic inflammatory pulmonary disease with a progressive loss of lung function, exocrine and sometimes endocrine pancreas insufficiency, and an excessive salt loss through the sweat glands.1 A summary of the signs and symptoms of CF will be given with a special emphasis on the effect of exercise performance and capacity.
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33

Heather, Nicky. Nutritional management of cystic fibrosis. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198759928.003.0024.

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This chapter covers the nutritional management of cystic fibrosis. This includes discussion of the risk factors for malnutrition, assessment of nutritional status, assessment of nutritional requirements, and practical management. The chapter includes a section on pancreatic enzyme replacement therapy.
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34

Bauernfeind, Adolf, Melvin I. Marks et Brigitta Strandvik. Cystic Fibrosis Pulmonary Infections : Lessons from Around the World. Birkhäuser, 2012.

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35

A, Bauernfeind, Marks Melvin I et Strandvik B, dir. Cystic fibrosis pulmonary infections : Lessons from around the world. Basel : Birkhauser Verlag, 1996.

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36

United States. Congress. Office of Technology Assessment., dir. Genetic counseling and cystic fibrosis carrier screening : Results of a survey. Washington, DC : Congress of the U.S., Office of Technology Assessment, 1992.

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37

US GOVERNMENT. Genetic Counseling and Cystic Fibrosis Carrier Screening : Results of a Survey (Background Paper). Office of Technology Assessment, 1992.

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38

Cuppens, Harry. Genetic Studies of the Cystic Fibrosis Transmembrane Conductance Regulator Gene in Belgian Cf Patients. Coronet Books Inc, 1995.

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39

Multipoint mapping and linkage based upon affected pedigree members : Genetic Analysis Workshop 6, proceedings of a workshop held at Gulf Park, Long Beach, ... in clinical and biological research). Liss, 1989.

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40

Cystic Fibrosis Pulmonary Infections : Lessons from Around the World (Respiratory Pharmacology and Pharmacotherapy). Birkhauser, 1996.

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41

(Editor), Adolf Bauernfeind, Melvin I. Marks (Editor) et Brigitta Strandvik (Editor), dir. Cystic Fibrosis Pulmonary Infections : Lessons from Around the World (Respiratory Pharmacology and Pharmacotherapy). Birkhauser, 2004.

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42

Cole, Desmond. CBD Oil for Cystic Fibrosis : Alternative Therapy for the Management and Treatment of Liver Fibrosis Using CBD Oil. Independently Published, 2019.

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43

Pitt, Tyrone. Antibiotic Resistance in Systic Fibrosis - an Emerging Crisis ? (International Congress and Symposium). Sous la direction de Tyrone Pitt. Royal Society of Medicine Press, 2003.

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44

Burmer, Karl. CBD Oil for Cystic Fibrosis : Effective Therapy for Severe Damage in the Lung and Digestive System. Independently Published, 2019.

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45

Strategies for Pharmacokinetic Optimization of Continuous Infusion Therapy of Ceftazidime and Aztreonam in Patients with Cystic Fibrosis. CIP-DATA, 1996.

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46

Slack, Jonathan. 3. Mutations and gene variants. Oxford University Press, 2014. http://dx.doi.org/10.1093/actrade/9780199676507.003.0003.

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All gene variants originate as mutations. Most variants in the genome of any given individual are not new mutations but have been inherited from previous generations. ‘Mutations and gene variants’ shows that mutations can occur in any cell of the body, but in order to be inherited they must occur in the DNA of the reproductive cells. There are numerous genetic diseases caused by a single mutation in one gene, and the examples considered here are cystic fibrosis, haemophilia, achondroplasia, and Holt-Oram Syndrome. In such cases, the inheritance of the abnormal gene variant follows simple Mendelian rules. The origin of cancer is explained as a combination of mutations occurring in a single cell of the body. Inherited gene variants predisposing to cancer do so because they reduce the number of new mutations required.
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47

Koch, Ch. Inhalation Therapy : Roche and Genentech Symposium European Cystic Fibrosis Conference, Paris, June 1994 (Respiration, Vol 62, Suppl 1). S. Karger AG (Switzerland), 1995.

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48

M, Geddes Duncan, dir. Colistin : New insights and practical issues : proceedings of a symposium held at the British Library, London, UK, on 27 January 2004. London : Royal Society of Medicine Press, 2004.

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49

Prasad, Raman. Recipes for the Specific Carbohydrate Diet : The Grain-Free, Dairy-Free, Sugar-Free Solution to IBD, Celiac Disease, Autism, Cystic Fibrosis, and other ... Conditions (Healthy Living Cookbooks). Fair Winds, 2008.

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50

Michels, Virginia V. Genetics. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199755691.003.0276.

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Genetic factors play a role in the development of many types of human disease. Genetic determinants may be chromosome abnormalities (Down syndrome, Kleinfelter syndrome, Turner syndrome), single gene defects (dilated and hypertrophic cardiomyopathies, Ehlers-Danlos syndrome, Marfan syndrome, neurofibromatosis, tuberous sclerosis, Gaucher disease, cystic fibrosis, sickle cell disease), mitochondrial mutations (MELAS, MERRF, Kearns-Sayre syndrome), or epigenetic or multifactorial factors. Genetics testing methods are also reviewed.
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