CFTR c.1397C>G ;(p.S466*)

Variant ID: 7-117199522-C-G

NM_000492.3(CFTR):c.1397C>G;(p.S466*)

This variant was identified in 52 publications

View GRCh38 version.




Publications:


The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.

International Journal Of Molecular Sciences
Makarova, Maria M; Nemtsova, Marina M; Danishevich, Anastasiia A; Chernevskiy, Denis D; Belenikin, Maxim M; Krinitsina, Anastasiia A; Baranova, Elena E; Sagaydak, Olesya O; Vorontsova, Maria M; Khatkov, Igor I; Zhukova, Lyudmila L; Bodunova, Natalia N; Nikolaev, Sergey S; Byakhova, Mariya M; Semenova, Anna A; Galkin, Vsevolod V; Gadzhieva, Saida S
Publication Date: 2023-04-27

Variant appearance in text: CFTR: 1397C>G; Ser466Ter; rs121908805
PubMed Link: 37175647
Variant Present in the following documents:
  • ijms-24-07940.pdf
View BVdb publication page



The synthetic aminoglycoside ELX-02 induces readthrough of G550X-CFTR producing super-functional protein that can be further enhanced by CFTR modulators.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Chen, Jianguo J; Thrasher, Kari K; Fu, Lianwu L; Wang, Wei W; Aghamohammadzadeh, Soheil S; Wen, Hui H; Tang, Liping L; Keeling, Kim M KM; Falk Libby, Emily E; Bedwell, David M DM; Rowe, Steven M SM
Publication Date: 2023-04-04

Variant appearance in text: CFTR: S466X
PubMed Link: 37014818
Variant Present in the following documents:
  • Main text
View BVdb publication page



Magnetic resonance imaging detects onset and association with lung disease severity of bronchial artery dilatation in cystic fibrosis.

Erj Open Research
Leutz-Schmidt, Patricia P; Optazaite, Daiva-Elzbieta DE; Sommerburg, Olaf O; Eichinger, Monika M; Wege, Sabine S; Steinke, Eva E; Graeber, Simon Y SY; Puderbach, Michael U MU; Schenk, Jens-Peter JP; Alrajab, Abdulsattar A; Triphan, Simon M F SMF; Kauczor, Hans-Ulrich HU; Stahl, Mirjam M; Mall, Marcus A MA; Wielpütz, Mark O MO
Publication Date: 2023-03

Variant appearance in text: CFTR: S466X
PubMed Link: 37009019
Variant Present in the following documents:
  • 00473-2022.SUPPLEMENT.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: CFTR: 1397C>G; Ser466Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].

Current Issues In Molecular Biology
Kondratyeva, Elena E; Bulatenko, Nataliya N; Melyanovskaya, Yuliya Y; Efremova, Anna A; Zhekaite, Elena E; Sherman, Viktoriya V; Voronkova, Anna A; Asherova, Irina I; Polyakov, Alexander A; Adyan, Tagui T; Kovalskaia, Valeriia V; Bukharova, Tatiana T; Goldshtein, Dmitry D; Kutsev, Sergey S
Publication Date: 2022-10-21

Variant appearance in text: CFTR: 1397C>G; S466X
PubMed Link: 36286063
Variant Present in the following documents:
  • Main text
  • cimb-44-00349.pdf
View BVdb publication page



Association between phenotypic and genotypic characteristics and disease severity in individuals with cystic fibrosis.

Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo
Carneiro, Gabriella Vieira GV; Oliveira, Fabiana Sodré de FS; Pereira, Leandro Alves LA; Rezende, Érica Rodrigues Mariano de Almeida ÉRMA; Gonçalves, Luciana Carneiro Pereira LCP; Azevedo, Vivian Mara Gonçalves de Oliveira VMGO
Publication Date: 2022

Variant appearance in text: CFTR: 1397C>G; S466X
PubMed Link: 36102402
Variant Present in the following documents:
  • Main text
  • 1984-0462-rpp-41-e2021286.pdf
View BVdb publication page



Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.

Journal Of Personalized Medicine
Sotnikova, Evgeniia A EA; Kiseleva, Anna V AV; Kutsenko, Vladimir A VA; Zharikova, Anastasia A AA; Ramensky, Vasily E VE; Divashuk, Mikhail G MG; Vyatkin, Yuri V YV; Klimushina, Marina V MV; Ershova, Alexandra I AI; Revazyan, Karina Z KZ; Skirko, Olga P OP; Zaicenoka, Marija M; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Kopylova, Oksana V OV; Glechan, Anush M AM; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2022-07-12

Variant appearance in text: rs121908805
PubMed Link: 35887629
Variant Present in the following documents:
  • Main text
  • jpm-12-01132.pdf
View BVdb publication page



Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases
Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X
Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1397C>G; S466X; rs121908805
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research
Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C
Publication Date: 2021-12

Variant appearance in text: CFTR: S466X
PubMed Link: 34857524
Variant Present in the following documents:
  • bmjresp-2021-000998supp001.pdf
View BVdb publication page



Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research
Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C
Publication Date: 2021-12

Variant appearance in text: CFTR: S466X
PubMed Link: 34857524
Variant Present in the following documents:
  • bmjresp-2021-000998supp001.pdf
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs121908805
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation.

Frontiers In Genetics
Petrova, Nika N; Balinova, Natalia N; Marakhonov, Andrey A; Vasilyeva, Tatyana T; Kashirskaya, Nataliya N; Galkina, Varvara V; Ginter, Evgeniy E; Kutsev, Sergey S; Zinchenko, Rena R
Publication Date: 2021

Variant appearance in text: CFTR: S466X
PubMed Link: 34220950
Variant Present in the following documents:
  • fgene-12-678374.pdf
  • Table_1.xlsx, sheet 1
View BVdb publication page



Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Human Mutation
Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S
Publication Date: 2021-09

Variant appearance in text: CFTR: 1397C>G; Ser466*
PubMed Link: 34196078
Variant Present in the following documents:
  • HUMU-42-1165-s002.xlsx, sheet 1
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: CFTR: 1397C>G; Ser466Ter; rs121908805
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier Parameters.

Diagnostics (Basel, Switzerland)
Zeyda, Maximilian M; Schanzer, Andrea A; Basek, Pavel P; Bauer, Vera V; Eber, Ernst E; Ellemunter, Helmut H; Kallinger, Margit M; Riedler, Josef J; Thir, Christina C; Wadlegger, Franz F; Zacharasiewicz, Angela A; Renner, Sabine S
Publication Date: 2021-02-13

Variant appearance in text: CFTR: S466X
PubMed Link: 33668470
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00299.pdf
View BVdb publication page



Cystic Fibrosis Polymorphic Variants in a Russian Population.

Pharmacogenomics And Personalized Medicine
Kiseleva, Anna A; Klimushina, Marina M; Sotnikova, Evgeniia E; Skirko, Olga O; Divashuk, Mikhail M; Kurilova, Olga O; Ershova, Alexandra A; Khlebus, Eleonora E; Zharikova, Anastasia A; Efimova, Irina I; Pokrovskaya, Maria M; Slominsky, Petr A PA; Shalnova, Svetlana S; Meshkov, Alexey A; Drapkina, Oxana O
Publication Date: 2020

Variant appearance in text: CFTR: 1397C>G; S466X; rs121908805
PubMed Link: 33623413
Variant Present in the following documents:
  • Main text
  • pgpm-13-679.pdf
View BVdb publication page



COVID-19 lockdown beneficial effects on lung function in a cohort of cystic fibrosis patients.

Italian Journal Of Pediatrics
Servidio, Alessia Giuseppina AG; Capata, Giulia G; Levantino, Laura L; Riccio, Guglielmo G; Contorno, Sarah S; Barbi, Egidio E; Maschio, Massimo M
Publication Date: 2021-01-18

Variant appearance in text: CFTR: S466X
PubMed Link: 33461569
Variant Present in the following documents:
  • Main text
  • 13052_2021_Article_970.pdf
View BVdb publication page



Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12

Variant appearance in text: CFTR: 1397C>G; Ser466X
PubMed Link: 33262486
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_741.pdf
View BVdb publication page



Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

International Journal Of Neonatal Screening
Sinclair, Graham G; McMahon, Vanessa V; Schellenberg, Amy A; Nelson, Tanya N TN; Chilvers, Mark M; Vallance, Hilary H
Publication Date: 2020-06

Variant appearance in text: CFTR: S466X
PubMed Link: 33073036
Variant Present in the following documents:
  • IJNS-06-00046-s001.xlsx, sheet 1
View BVdb publication page



A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal Of Personalized Medicine
Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2020-09-22

Variant appearance in text: CFTR: 1397C>G; S466*; rs121908805
PubMed Link: 32971794
Variant Present in the following documents:
  • jpm-10-00140-s001.pdf
View BVdb publication page



Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA
Publication Date: 2020-05-15

Variant appearance in text: CFTR: 1397C>G
PubMed Link: 32429104
Variant Present in the following documents:
  • Main text
  • genes-11-00554.pdf
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: CFTR: S466X
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 16
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: CFTR: 1397C>G; Ser466*; rs121908805
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.

Balkan Journal Of Medical Genetics : Bjmg
Terzic, M M; Jakimovska, M M; Fustik, S S; Jakovska, T T; Sukarova-Stefanovska, E E; Plaseska-Karanfilska, D D
Publication Date: 2019-06

Variant appearance in text: CFTR: S466X
PubMed Link: 31523618
Variant Present in the following documents:
  • Main text
  • bjmg-22-035.pdf
View BVdb publication page



Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Molecular Genetics & Genomic Medicine
Petrova, Guergana G; Yaneva, Nadezhda N; Hrbková, Jana J; Libik, Malgorzata M; Savov, Alexey A; Macek, Milan M
Publication Date: 2019-08

Variant appearance in text: CFTR: 1397C>G; Ser466X
PubMed Link: 31245908
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: CFTR: 1397C>G; Ser466Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Sequencing as a first-line methodology for cystic fibrosis carrier screening.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Beauchamp, Kyle A KA; Johansen Taber, Katherine A KA; Grauman, Peter V PV; Spurka, Lindsay L; Lim-Harashima, Jeraldine J; Svenson, Ashley A; Goldberg, James D JD; Muzzey, Dale D
Publication Date: 2019-11

Variant appearance in text: CFTR: 1397C>G; S466*
PubMed Link: 31036917
Variant Present in the following documents:
  • 41436_2019_525_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

Scientific Reports
Pereira, Stéphanie Villa-Nova SV; Ribeiro, José Dirceu JD; Ribeiro, Antônio Fernando AF; Bertuzzo, Carmen Sílvia CS; Marson, Fernando Augusto Lima FAL
Publication Date: 2019-04-17

Variant appearance in text: CFTR: Ser466Ter; rs121908805
PubMed Link: 30996306
Variant Present in the following documents:
  • Main text
View BVdb publication page



Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

Bmc Medical Genetics
Petrova, N V NV; Kashirskaya, N Y NY; Saydaeva, D K DK; Polyakov, A V AV; Adyan, T A TA; Simonova, O I OI; Gorinova, Y V YV; Kondratyeva, E I EI; Sherman, V D VD; Novoselova, O G OG; Vasilyeva, T A TA; Marakhonov, A V AV; Macek, M M; Ginter, E K EK; Zinchenko, R A RA
Publication Date: 2019-03-21

Variant appearance in text: CFTR: 1397C>G; S466X
PubMed Link: 30898088
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_785.pdf
View BVdb publication page



CFTR Mutation Analysis in Western Iran: Identification of Two Novel Mutations.

Journal Of Reproduction & Infertility
Karimi, Nasibeh N; Alibakhshi, Reza R; Almasi, Shekoufeh S
Publication Date: 2018

Variant appearance in text: CFTR: S466X
PubMed Link: 29850441
Variant Present in the following documents:
  • Main text
  • JRI-19-3.pdf
View BVdb publication page



Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Erj Open Research
Pranke, Iwona I; Bidou, Laure L; Martin, Natacha N; Blanchet, Sandra S; Hatton, Aurélie A; Karri, Sabrina S; Cornu, David D; Costes, Bruno B; Chevalier, Benoit B; Tondelier, Danielle D; Girodon, Emmanuelle E; Coupet, Matthieu M; Edelman, Aleksander A; Fanen, Pascale P; Namy, Olivier O; Sermet-Gaudelus, Isabelle I; Hinzpeter, Alexandre A
Publication Date: 2018-01

Variant appearance in text: CFTR: Ser466*
PubMed Link: 29497617
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system.

Bmc Genomics
Ivády, Gergely G; Madar, László L; Dzsudzsák, Erika E; Koczok, Katalin K; Kappelmayer, János J; Krulisova, Veronika V; Macek, Milan M; Horváth, Attila A; Balogh, István I
Publication Date: 2018-02-21

Variant appearance in text: CFTR: 1397C>G; S466X
PubMed Link: 29466940
Variant Present in the following documents:
  • Main text
  • 12864_2018_Article_4544.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs121908805
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics
Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M
Publication Date: 2017-09

Variant appearance in text: CFTR: 1397C>G; Ser466Ter; rs121908805
PubMed Link: 28957316
Variant Present in the following documents:
  • pgen.1006915.s002.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: CFTR: 1397C>G; Ser466Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Molecular Genetics & Genomic Medicine
Behar, Doron M DM; Inbar, Ori O; Shteinberg, Michal M; Gur, Michal M; Mussaffi, Huda H; Shoseyov, David D; Ashkenazi, Moshe M; Alkrinawi, Soliman S; Bormans, Concetta C; Hakim, Fahed F; Mei-Zahav, Meir M; Cohen-Cymberknoh, Malena M; Dagan, Adi A; Prais, Dario D; Sarouk, Ifat I; Stafler, Patrick P; Bar Aluma, Bat El BE; Akler, Gidon G; Picard, Elie E; Aviram, Micha M; Efrati, Ori O; Livnat, Galit G; Rivlin, Joseph J; Bentur, Lea L; Blau, Hannah H; Kerem, Eitan E; Singer, Amihood A
Publication Date: 2017-05

Variant appearance in text: CFTR: 1397C>G; Ser466*
PubMed Link: 28546993
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.

Journal Of Medical Biochemistry
Ivády, Gergely G; Koczok, Katalin K; Madar, Laszlo L; Gombos, Eva E; Toth, Izabella I; Gyori, Klaudia K; Balogh, István I
Publication Date: 2015-01

Variant appearance in text: CFTR: 1397C>G; S466X
PubMed Link: 28356823
Variant Present in the following documents:
  • Main text
  • jomb-2014-0055.pdf
View BVdb publication page



Growth assessment and risk factors of malnutrition in children with cystic fibrosis.

Saudi Medical Journal
Isa, Hasan M HM; Al-Ali, Lina F LF; Mohamed, Afaf M AM
Publication Date: 2016-03

Variant appearance in text: CFTR: 1397C>G
PubMed Link: 26905352
Variant Present in the following documents:
  • Main text
  • SaudiMedJ-37-293.pdf
View BVdb publication page



Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Molecular Genetics & Genomic Medicine
Trujillano, Daniel D; Weiss, Maximilian E R ME; Köster, Julia J; Papachristos, Efstathios B EB; Werber, Martin M; Kandaswamy, Krishna Kumar KK; Marais, Anett A; Eichler, Sabrina S; Creed, Jenny J; Baysal, Erol E; Jaber, Iqbal Yousuf IY; Mehaney, Dina Ahmed DA; Farra, Chantal C; Rolfs, Arndt A
Publication Date: 2015-09

Variant appearance in text: CFTR: 1397C>G; S466*; rs121908805
PubMed Link: 26436105
Variant Present in the following documents:
  • Main text
View BVdb publication page



Changing incidence of cystic fibrosis in Wisconsin, USA.

Pediatric Pulmonology
Parker-McGill, Katelyn K; Nugent, Melodee M; Bersie, Rachel R; Hoffman, Gary G; Rock, Michael M; Baker, Mei M; Farrell, Philip M PM; Simpson, Pippa P; Levy, Hara H
Publication Date: 2015-11

Variant appearance in text: CFTR: Ser466X
PubMed Link: 26258862
Variant Present in the following documents:
  • Main text
View BVdb publication page



The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg
Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M
Publication Date: 2016-04

Variant appearance in text: CFTR: 1397C>G; Ser466*
PubMed Link: 26014425
Variant Present in the following documents:
  • Main text
  • ejhg201599a.pdf
View BVdb publication page



A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)
Lucarelli, Marco M; Bruno, Sabina Maria SM; Pierandrei, Silvia S; Ferraguti, Giampiero G; Stamato, Antonella A; Narzi, Fabiana F; Amato, Annalisa A; Cimino, Giuseppe G; Bertasi, Serenella S; Quattrucci, Serena S; Strom, Roberto R
Publication Date: 2015-04-21

Variant appearance in text: CFTR: S466X
PubMed Link: 25910067
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM
Publication Date: 2016-03

Variant appearance in text: CFTR: 1397C>G; S466X
PubMed Link: 25674778
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation Analysis of Exons 10 and 17a of CFTR Gene in Patients with Cystic Fibrosis in Kermanshah Province, Western Iran.

Journal Of Reproduction & Infertility
Sahami, Abbas A; Alibakhshi, Reza R; Ghadiri, Keyghobad K; Sadeghi, Hamid H
Publication Date: 2014-01

Variant appearance in text: CFTR: S466x
PubMed Link: 24696795
Variant Present in the following documents:
  • Main text
  • JRI-15-49.pdf
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CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Plos One
Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M
Publication Date: 2014

Variant appearance in text: CFTR: 1397C>G; S466X
PubMed Link: 24586523
Variant Present in the following documents:
  • pone.0089094.pdf
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