Page last updated: 2024-10-18

iodine and Genetic Predisposition

iodine has been researched along with Genetic Predisposition in 40 studies

Iodine: A nonmetallic element of the halogen group that is represented by the atomic symbol I, atomic number 53, and atomic weight of 126.90. It is a nutritionally essential element, especially important in thyroid hormone synthesis. In solution, it has anti-infective properties and is used topically.
diiodine : Molecule comprising two covalently bonded iodine atoms with overall zero charge..

Research Excerpts

ExcerptRelevanceReference
"TA in a hyperthyroid population living in Galicia, a Spanish iodine-deficient region, harbours elevated frequencies of TSHR and GNAS mutations activating the cAMP pathway."7.74Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain. ( Araujo Vilar, D; Argueso, R; Barca, O; Barreiro-Morandeira, F; Botana, M; Cabezas-Agrícola, JM; Cameselle-Teijeiro, J; Catalina, P; Dominguez Gerpe, L; Fernandez, T; Lado-Abeal, J; Mato, A; Nuño, A; Palos-Paz, F; Penin, M; Perez-Guerra, O; Rueda-Chimeno, C; Victoria, B, 2008)
"To characterize the time course and physiologic significance of decline in serum immunoreactive trypsinogen (IRT) levels in infants with cystic fibrosis (CF) by mode of diagnosis and genotype, and to examine IRT heritability."7.73Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening. ( Accurso, FJ; Corey, M; Hokanson, JE; Marshall, JA; Sommer, SS; Sontag, MK; Zerbe, GO, 2006)
"Family and twin studies suggest a genetic predisposition for euthyroid goiters."5.37Evidence for a more pronounced effect of genetic predisposition than environmental factors on goitrogenesis by a case control study in an area with low normal iodine supply. ( Eszlinger, M; Paschke, R; Singer, J; Wicht, J, 2011)
"Goitrogenisis is the consequence of a relative iodine deficiency interacting with a genetic predisposition for maladaptation to iodine deficiency."3.77Nodulogenesis and goitrogenesis. ( Paschke, R, 2011)
"To investigate the association between variants in the HLA-DRB1 gene and Kashin-Beck disease (KBD), as well as associations of selenium and iodine deficiencies with KBD in a Tibetan population."3.77Genetic variants in the HLA-DRB1 gene are associated with Kashin-Beck disease in the Tibetan population. ( Cheng, J; Deng, J; Hao, P; Hu, M; Huang, L; Lin, H; Liu, X; Long, W; Lu, F; Lv, B; Ma, S; Shen, S; Shi, Y; Wang, X; Wang, Y; Yang, X; Yang, Z; Zeng, M; Zhang, K; Zhou, B; Zhu, J, 2011)
"TA in a hyperthyroid population living in Galicia, a Spanish iodine-deficient region, harbours elevated frequencies of TSHR and GNAS mutations activating the cAMP pathway."3.74Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain. ( Araujo Vilar, D; Argueso, R; Barca, O; Barreiro-Morandeira, F; Botana, M; Cabezas-Agrícola, JM; Cameselle-Teijeiro, J; Catalina, P; Dominguez Gerpe, L; Fernandez, T; Lado-Abeal, J; Mato, A; Nuño, A; Palos-Paz, F; Penin, M; Perez-Guerra, O; Rueda-Chimeno, C; Victoria, B, 2008)
"To characterize the time course and physiologic significance of decline in serum immunoreactive trypsinogen (IRT) levels in infants with cystic fibrosis (CF) by mode of diagnosis and genotype, and to examine IRT heritability."3.73Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening. ( Accurso, FJ; Corey, M; Hokanson, JE; Marshall, JA; Sommer, SS; Sontag, MK; Zerbe, GO, 2006)
"We tested 39 patients with idiopathic chronic pancreatitis (mean age at diagnosis, 33 years) for common mutations of CFTR and of genes encoding a trypsin inhibitor (PSTI) and trypsinogen (PRSS1)."3.71Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. ( Cohn, JA; Jowell, PS; Knowles, MR; Noone, PG; Silverman, LM; Zhou, Z, 2001)
"Fetal iodine deficiency disorder (FIDD) is the principal form of endemic cretinism, and the most common cause of preventable mental deficiency in the world."3.70Apolipoprotein E is a genetic risk factor for fetal iodine deficiency disorder in China. ( Breen, G; Clair, DS; Fan, JB; Feng, GY; Gao, JJ; Gao, XC; Guo, GR; He, L; Huang, TZ; Ke, ZJ; Liu, P; Sun, Y; Wang, HY; Xi, H; Zhang, FC; Zheng, ZJ, 2000)
"Congenital hypothyroidism affects 1 in 3,000 to 1 in 4,000 infants, and 15% of these cases have been attributed to genetic defects."2.43Genetic factors that might lead to different responses in individuals exposed to perchlorate. ( Fowler, BA; Murray, HE; Scinicariello, F; Smith, L; Wilbur, S, 2005)
"Papillary thyroid cancer (PTC) accounts for more than 97 % of thyroid cancer and 80% or more PTC cases harbor the BRAF mutation in Korea."1.48Iodine intake as a risk factor for BRAF mutations in papillary thyroid cancer patients from an iodine-replete area. ( Byun, DW; Chung, JH; Kim, HJ; Kim, SW; Min, YK; Park, HK; Suh, K; Yoo, MH, 2018)
"The incidence of differentiated thyroid cancer (DTC) is low in Cuba, and the contribution of dietary factors to DTC in this population has not been investigated so far."1.43FOXE1 Polymorphism Interacts with Dietary Iodine Intake in Differentiated Thyroid Cancer Risk in the Cuban Population. ( Allodji, RS; Bustillo, M; Chappe, M; Cléro, E; de Vathaire, F; Guérin, T; Infante, I; Lence-Anta, JJ; Lesueur, F; Leufroy, A; Maillard, S; Noël, L; Ortiz, RM; Pereda, CM; Ren, Y; Rodriguez, R; Rubino, C; Turcios, S; Velasco, M; Xhaard, C, 2016)
"Family and twin studies suggest a genetic predisposition for euthyroid goiters."1.37Evidence for a more pronounced effect of genetic predisposition than environmental factors on goitrogenesis by a case control study in an area with low normal iodine supply. ( Eszlinger, M; Paschke, R; Singer, J; Wicht, J, 2011)
"Cystic fibrosis is a lethal autosomal recessive disorder usually associated with lung disease, pancreatic insufficiency and high sweat chloride levels."1.35Clinical and molecular characterization of S1118F-CFTR. ( Conoley, VG; Frederick, CA; Kappes, J; Li, C; Naren, AP; Nekkalapu, S; Penmatsa, H; Stokes, DC; Zhang, W, 2009)
"Cystic fibrosis is the most common autosomal recessive genetic defect of one gene CFTR, where a variety of mutations were revealed."1.33[Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis]. ( Iwańczak, F; Mowszet, K; Pawłowicz, J; Sasiadek, M; Smigiel, R; Stawarski, A; Stembalska, A, 2005)
"Chronic rhinosinusitis is a consistent feature of the autosomal recessive disorder cystic fibrosis (CF)."1.31Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population. ( Cutting, GR; Kim, J; Leopold, DA; Moylan, B; Proud, D; Rubenstein, RC; Togias, A; Wang, X; Zeitlin, PL, 2000)

Research

Studies (40)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (5.00)18.2507
2000's19 (47.50)29.6817
2010's16 (40.00)24.3611
2020's3 (7.50)2.80

Authors

AuthorsStudies
Lafontaine, N3
Wilson, SG3
Walsh, JP3
Zhang, Q1
Jiang, C1
Li, H1
Zhang, C1
Wu, H1
Huang, F1
Li, L1
Ying, YX1
Liang, J1
Geng, HF1
Zhang, QY1
Zhang, CR1
Chen, FX1
Li, Y1
Feng, Y1
Wang, Y4
Song, HD1
Li, J2
Zhang, F2
Qin, W1
Xing, Q1
Qian, X1
Guo, T1
Gao, X1
He, L3
Gao, J2
Su, D1
Zhao, H1
Hu, J1
Tang, D1
Cui, J1
Zhou, M1
Yang, J1
Wang, S1
Ren, Y1
Lence-Anta, JJ1
Pereda, CM1
Chappe, M1
Velasco, M1
Infante, I1
Bustillo, M1
Turcios, S1
Leufroy, A1
Guérin, T1
Noël, L1
Lesueur, F1
Maillard, S1
Cléro, E1
Xhaard, C1
Allodji, RS1
Rubino, C1
Rodriguez, R1
Ortiz, RM1
de Vathaire, F1
Kim, HJ1
Park, HK1
Byun, DW1
Suh, K1
Yoo, MH1
Min, YK1
Kim, SW1
Chung, JH1
Duntas, LH2
Palos-Paz, F1
Perez-Guerra, O1
Cameselle-Teijeiro, J1
Rueda-Chimeno, C1
Barreiro-Morandeira, F1
Lado-Abeal, J1
Araujo Vilar, D1
Argueso, R1
Barca, O1
Botana, M1
Cabezas-Agrícola, JM1
Catalina, P1
Dominguez Gerpe, L1
Fernandez, T1
Mato, A1
Nuño, A1
Penin, M1
Victoria, B1
Cai, Z1
Zhao, Q1
Xing, Y1
Xu, J1
Liu, Y1
Shao, L1
Che, R1
Wei, Z1
Stone, R1
Brent, GA1
Effraimidis, G1
Strieder, TG1
Tijssen, JG1
Wiersinga, WM1
Saranac, L1
Zivanovic, S1
Bjelakovic, B1
Stamenkovic, H1
Novak, M1
Kamenov, B1
Singer, J1
Eszlinger, M1
Wicht, J1
Paschke, R2
Shi, Y1
Lu, F1
Liu, X2
Huang, L1
Long, W1
Lv, B1
Zhang, K1
Ma, S1
Lin, H1
Cheng, J1
Zhou, B1
Hu, M1
Deng, J1
Zhu, J1
Hao, P1
Yang, X1
Zeng, M1
Wang, X2
Shen, S1
Yang, Z1
Fountoulakis, S1
Tsatsoulis, A1
Scinicariello, F1
Murray, HE1
Smith, L1
Wilbur, S1
Fowler, BA1
Spitzweg, C1
Heufelder, AE1
Abuye, C1
Omwega, AM1
Imungi, JK1
Wang, HY1
Zhang, FC1
Gao, JJ1
Fan, JB1
Liu, P1
Zheng, ZJ1
Xi, H1
Sun, Y1
Gao, XC1
Huang, TZ1
Ke, ZJ1
Guo, GR1
Feng, GY1
Breen, G1
Clair, DS1
Wild, CP1
Andersson, C1
O'Brien, NM1
Wilson, L1
Woods, JA1
Graham, PA1
Nachreiner, RF1
Refsal, KR1
Provencher-Bolliger, AL1
Vali, M1
Rose, NR1
Caturegli, P1
Sermet-Gaudelus, I1
Elborn, JS1
Penmatsa, H1
Frederick, CA1
Nekkalapu, S1
Conoley, VG1
Zhang, W1
Li, C1
Kappes, J1
Stokes, DC1
Naren, AP1
Burgel, PR1
Fajac, I1
Hubert, D1
Grenet, D1
Stremler, N1
Roussey, M1
Siret, D1
Languepin, J1
Mely, L1
Fanton, A1
Labbé, A1
Domblides, P1
Vic, P1
Dagorne, M1
Reynaud-Gaubert, M1
Counil, F1
Varaigne, F1
Bienvenu, T1
Bellis, G1
Dusser, D1
Brown, MB1
Haack, KK1
Pollack, BP1
Millard-Stafford, M1
McCarty, NA1
Hooman, N1
Jafari, D1
Jalali-Farahani, S1
Lahouti Harahdashti, A1
Patuzzo, C1
Castellani, C1
Sagramoso, C1
Gomez-Lira, M1
Bonamini, D1
Belpinati, F1
Dechecchi, MC1
Assael, BM1
Pignatti, PF2
Sontag, MK1
Corey, M1
Hokanson, JE1
Marshall, JA1
Sommer, SS1
Zerbe, GO1
Accurso, FJ1
Black, DD1
Iwańczak, F1
Smigiel, R1
Stawarski, A1
Pawłowicz, J1
Stembalska, A1
Mowszet, K1
Sasiadek, M1
Paranjape, SM1
Zeitlin, PL2
Moylan, B1
Leopold, DA1
Kim, J1
Rubenstein, RC1
Togias, A1
Proud, D1
Cutting, GR1
Dequeker, E1
Cuppens, H1
Dodge, J1
Estivill, X1
Goossens, M1
Scheffer, H1
Schwartz, M1
Schwarz, M1
Tümmler, B1
Cassiman, JJ1
Noone, PG1
Zhou, Z1
Silverman, LM1
Jowell, PS1
Knowles, MR1
Cohn, JA1

Reviews

13 reviews available for iodine and Genetic Predisposition

ArticleYear
DNA Methylation in Autoimmune Thyroid Disease.
    The Journal of clinical endocrinology and metabolism, 2023, 02-15, Volume: 108, Issue:3

    Topics: Autoimmune Diseases; DNA Methylation; Genetic Predisposition to Disease; Graves Disease; Hashimoto D

2023
DNA Methylation in Autoimmune Thyroid Disease.
    The Journal of clinical endocrinology and metabolism, 2023, 02-15, Volume: 108, Issue:3

    Topics: Autoimmune Diseases; DNA Methylation; Genetic Predisposition to Disease; Graves Disease; Hashimoto D

2023
DNA Methylation in Autoimmune Thyroid Disease.
    The Journal of clinical endocrinology and metabolism, 2023, 02-15, Volume: 108, Issue:3

    Topics: Autoimmune Diseases; DNA Methylation; Genetic Predisposition to Disease; Graves Disease; Hashimoto D

2023
DNA Methylation in Autoimmune Thyroid Disease.
    The Journal of clinical endocrinology and metabolism, 2023, 02-15, Volume: 108, Issue:3

    Topics: Autoimmune Diseases; DNA Methylation; Genetic Predisposition to Disease; Graves Disease; Hashimoto D

2023
DNA Methylation in Autoimmune Thyroid Disease.
    The Journal of clinical endocrinology and metabolism, 2023, 02-15, Volume: 108, Issue:3

    Topics: Autoimmune Diseases; DNA Methylation; Genetic Predisposition to Disease; Graves Disease; Hashimoto D

2023
DNA Methylation in Autoimmune Thyroid Disease.
    The Journal of clinical endocrinology and metabolism, 2023, 02-15, Volume: 108, Issue:3

    Topics: Autoimmune Diseases; DNA Methylation; Genetic Predisposition to Disease; Graves Disease; Hashimoto D

2023
DNA Methylation in Autoimmune Thyroid Disease.
    The Journal of clinical endocrinology and metabolism, 2023, 02-15, Volume: 108, Issue:3

    Topics: Autoimmune Diseases; DNA Methylation; Genetic Predisposition to Disease; Graves Disease; Hashimoto D

2023
DNA Methylation in Autoimmune Thyroid Disease.
    The Journal of clinical endocrinology and metabolism, 2023, 02-15, Volume: 108, Issue:3

    Topics: Autoimmune Diseases; DNA Methylation; Genetic Predisposition to Disease; Graves Disease; Hashimoto D

2023
DNA Methylation in Autoimmune Thyroid Disease.
    The Journal of clinical endocrinology and metabolism, 2023, 02-15, Volume: 108, Issue:3

    Topics: Autoimmune Diseases; DNA Methylation; Genetic Predisposition to Disease; Graves Disease; Hashimoto D

2023
Environmental factors and autoimmune thyroiditis.
    Nature clinical practice. Endocrinology & metabolism, 2008, Volume: 4, Issue:8

    Topics: Genetic Predisposition to Disease; Humans; Iodine; Risk Factors; Selenium; Smoke; Socioeconomic Fact

2008
Environmental exposures and autoimmune thyroid disease.
    Thyroid : official journal of the American Thyroid Association, 2010, Volume: 20, Issue:7

    Topics: Animals; Autoimmune Diseases; Environmental Exposure; Genetic Predisposition to Disease; Humans; Inc

2010
Why is the thyroid so prone to autoimmune disease?
    Hormone research in paediatrics, 2011, Volume: 75, Issue:3

    Topics: Adolescent; Adult; Aged; Animals; Antigen Presentation; Child; Environmental Pollutants; Genetic Pre

2011
Environmental factors and thyroid autoimmunity.
    Annales d'endocrinologie, 2011, Volume: 72, Issue:2

    Topics: Animals; Autoimmunity; Communicable Diseases; Environmental Pollutants; Female; Genetic Predispositi

2011
On the pathogenesis of autoimmune thyroid disease: a unifying hypothesis.
    Clinical endocrinology, 2004, Volume: 60, Issue:4

    Topics: Antigen-Presenting Cells; Apoptosis; Autoantigens; Genetic Predisposition to Disease; Humans; Immune

2004
Genetic factors that might lead to different responses in individuals exposed to perchlorate.
    Environmental health perspectives, 2005, Volume: 113, Issue:11

    Topics: Autoantigens; Biomarkers; Environmental Exposure; Environmental Pollutants; Genetic Predisposition t

2005
[Sodium-iodine symporter of the thyroid gland. Discovery, characterization, clinical relevance and prospects].
    Deutsche medizinische Wochenschrift (1946), 1999, Sep-17, Volume: 124, Issue:37

    Topics: Carrier Proteins; DNA Mutational Analysis; Genetic Predisposition to Disease; Genetic Testing; Human

1999
A critical evaluation of the application of biomarkers in epidemiological studies on diet and health.
    The British journal of nutrition, 2001, Volume: 86 Suppl 1

    Topics: Biomarkers; Colorectal Neoplasms; Cooking; Diet; Epidemiologic Factors; Estrogens, Non-Steroidal; Fe

2001
Lymphocytic thyroiditis.
    The Veterinary clinics of North America. Small animal practice, 2001, Volume: 31, Issue:5

    Topics: Animals; Autoantibodies; Autoimmune Diseases; Disease Progression; Dog Diseases; Dogs; Female; Genet

2001
Thyroglobulin as autoantigen: structure-function relationships.
    Reviews in endocrine & metabolic disorders, 2000, Volume: 1, Issue:1-2

    Topics: Amino Acid Sequence; Animals; Autoantigens; Base Sequence; Genetic Predisposition to Disease; Glycos

2000
Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation.
    European respiratory review : an official journal of the European Respiratory Society, 2013, Mar-01, Volume: 22, Issue:127

    Topics: Adolescent; Adult; Aminophenols; Child; Chlorides; Cystic Fibrosis; Cystic Fibrosis Transmembrane Co

2013
Atypical cystic fibrosis and CFTR-related diseases.
    Clinical reviews in allergy & immunology, 2008, Volume: 35, Issue:3

    Topics: Adolescent; Adult; Airway Obstruction; Aspergillosis, Allergic Bronchopulmonary; Aspergillus fumigat

2008

Other Studies

27 other studies available for iodine and Genetic Predisposition

ArticleYear
Effect of the Interaction Between Cadmium Exposure and CLOCK Gene Polymorphisms on Thyroid Cancer: a Case-Control Study in China.
    Biological trace element research, 2020, Volume: 196, Issue:1

    Topics: Cadmium; Case-Control Studies; China; Female; Genetic Predisposition to Disease; Genotype; Humans; I

2020
Urinary Iodine and Genetic Predisposition to Hashimoto's Thyroiditis in a Chinese Han Population: A Case-Control Study.
    Thyroid : official journal of the American Thyroid Association, 2020, Volume: 30, Issue:12

    Topics: Adult; Asian People; Biomarkers; Case-Control Studies; China; Female; Genetic Predisposition to Dise

2020
Association between ε2/3/4, promoter polymorphism (-491A/T, -427T/C, and -219T/G) at the apolipoprotein E gene, and mental retardation in children from an iodine deficiency area, China.
    BioMed research international, 2014, Volume: 2014

    Topics: Adolescent; Apolipoproteins E; Base Sequence; Child; China; Comorbidity; Female; Genetic Association

2014
TRPA1 and TRPV1 contribute to iodine antiseptics-associated pain and allergy.
    EMBO reports, 2016, Volume: 17, Issue:10

    Topics: Animals; Anti-Infective Agents, Local; Cell Line; Disease Models, Animal; Ganglia, Spinal; Gene Expr

2016
FOXE1 Polymorphism Interacts with Dietary Iodine Intake in Differentiated Thyroid Cancer Risk in the Cuban Population.
    Thyroid : official journal of the American Thyroid Association, 2016, Volume: 26, Issue:12

    Topics: Adolescent; Adult; Alleles; Case-Control Studies; Cuba; Diet; Female; Forkhead Transcription Factors

2016
Iodine intake as a risk factor for BRAF mutations in papillary thyroid cancer patients from an iodine-replete area.
    European journal of nutrition, 2018, Volume: 57, Issue:2

    Topics: Academic Medical Centers; Adult; Aged; Carcinoma, Papillary; Deficiency Diseases; Diet; Female; Gene

2018
Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain.
    European journal of endocrinology, 2008, Volume: 159, Issue:5

    Topics: Adenoma; Adult; Aged; Chromogranins; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; Endemic Di

2008
An association study of the SLC26A4 gene in children with mental retardation.
    Neuroscience letters, 2009, Jul-03, Volume: 457, Issue:3

    Topics: Child; Gene Frequency; Genetic Predisposition to Disease; Genome-Wide Association Study; Haplotypes;

2009
Diseases. A medical mystery in middle China.
    Science (New York, N.Y.), 2009, Jun-12, Volume: 324, Issue:5933

    Topics: Cartilage Diseases; China; Chondrocytes; Endemic Diseases; Free Radicals; Genetic Predisposition to

2009
Natural history of the transition from euthyroidism to overt autoimmune hypo- or hyperthyroidism: a prospective study.
    European journal of endocrinology, 2011, Volume: 164, Issue:1

    Topics: Adult; Aged; Autoantibodies; Autoimmunity; Case-Control Studies; Disease Progression; Female; Geneti

2011
Evidence for a more pronounced effect of genetic predisposition than environmental factors on goitrogenesis by a case control study in an area with low normal iodine supply.
    Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme, 2011, Volume: 43, Issue:5

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Case-Control Studies; Environment; Female; Genetic Predi

2011
Nodulogenesis and goitrogenesis.
    Annales d'endocrinologie, 2011, Volume: 72, Issue:2

    Topics: Female; Genetic Predisposition to Disease; Goiter, Nodular; Humans; Hydrogen Peroxide; Iodine; Male;

2011
Genetic variants in the HLA-DRB1 gene are associated with Kashin-Beck disease in the Tibetan population.
    Arthritis and rheumatism, 2011, Volume: 63, Issue:11

    Topics: Adolescent; Adult; Aged; Alleles; Asian People; Case-Control Studies; Child; Child, Preschool; Femal

2011
Familial tendency and dietary association of goitre in Gamo-Gofa, Ethiopia.
    East African medical journal, 1999, Volume: 76, Issue:8

    Topics: Adolescent; Age Distribution; Child; Cross-Sectional Studies; Diet; Ethiopia; Female; Genetic Predis

1999
Apolipoprotein E is a genetic risk factor for fetal iodine deficiency disorder in China.
    Molecular psychiatry, 2000, Volume: 5, Issue:4

    Topics: Adolescent; Adult; Aged; Alleles; Apolipoproteins E; Child; Child, Preschool; China; Congenital Hypo

2000
The impact of personalised therapies on respiratory medicine.
    European respiratory review : an official journal of the European Respiratory Society, 2013, Mar-01, Volume: 22, Issue:127

    Topics: Aminophenols; Chlorides; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Genet

2013
Clinical and molecular characterization of S1118F-CFTR.
    Pediatric pulmonology, 2009, Volume: 44, Issue:10

    Topics: Blotting, Western; Cells, Cultured; Chlorides; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conduc

2009
Non-classic cystic fibrosis associated with D1152H CFTR mutation.
    Clinical genetics, 2010, Volume: 77, Issue:4

    Topics: Adolescent; Adult; Aged; Amino Acid Substitution; Child; Child, Preschool; Chlorides; Cohort Studies

2010
Low abundance of sweat duct Cl- channel CFTR in both healthy and cystic fibrosis athletes with exceptionally salty sweat during exercise.
    American journal of physiology. Regulatory, integrative and comparative physiology, 2011, Volume: 300, Issue:3

    Topics: Adult; Aldosterone; Aquaporin 5; Bicycling; Biopsy; Case-Control Studies; Cystic Fibrosis; Cystic Fi

2011
An infant with alternating metabolic acidosis and alkalosis: question.
    Pediatric nephrology (Berlin, Germany), 2012, Volume: 27, Issue:1

    Topics: Acidosis; Acute Kidney Injury; Alkalosis; Chlorides; Cystic Fibrosis; Cystic Fibrosis Transmembrane

2012
Cationic trypsinogen and pancreatic secretory trypsin inhibitor gene mutations in neonatal hypertrypsinaemia.
    European journal of human genetics : EJHG, 2003, Volume: 11, Issue:1

    Topics: Carrier Proteins; Cations; Cystic Fibrosis Transmembrane Conductance Regulator; Genetic Predispositi

2003
Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening.
    The Journal of pediatrics, 2006, Volume: 149, Issue:5

    Topics: Biomarkers; Body Height; Body Weight; Chlorides; Cystic Fibrosis; DNA Mutational Analysis; Fats; Fec

2006
What is the role of cystic fibrosis transmembrane conductance regulator dysfunction in primary sclerosing cholangitis?
    The Journal of pediatrics, 2007, Volume: 151, Issue:3

    Topics: Child; Cholangitis, Sclerosing; Cystic Fibrosis Transmembrane Conductance Regulator; Genetic Predisp

2007
[Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis].
    Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego, 2005, Volume: 18, Issue:104

    Topics: Adolescent; Adult; Child; Child, Preschool; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductan

2005
Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population.
    JAMA, 2000, Oct-11, Volume: 284, Issue:14

    Topics: Adult; Aged; Case-Control Studies; Chronic Disease; Cystic Fibrosis; Cystic Fibrosis Transmembrane C

2000
Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis.
    European journal of human genetics : EJHG, 2000, Volume: 8 Suppl 2

    Topics: Accreditation; Adolescent; Adult; Child; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance

2000
Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations.
    Gastroenterology, 2001, Volume: 121, Issue:6

    Topics: Adolescent; Adult; Alleles; alpha-Amylases; Child; Chlorides; Cystic Fibrosis; Epithelium; Female; G

2001