Publications:

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The Association between CFTR Gene Mutation Heterozygosity and Asthma Development: A Systematic Review.

Journal Of Clinical Medicine

Koumpagioti, Despoina D; Moriki, Dafni D; Boutopoulou, Barbara B; Matziou, Vasiliki V; Loukou, Ioanna I; Priftis, Kostas N KN; Douros, Konstantinos K

Publication Date: 2023-03-21

Variant appearance in text: CFTR: L997F

PubMed Link: 36983403

Variant Present in the following documents:

• Main text
• jcm-12-02403.pdf

View BVdb publication page

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CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24.

International Journal Of Molecular Sciences

Kleinfelder, Karina K; Somenza, Elena E; Farinazzo, Alessia A; Conti, Jessica J; Lotti, Virginia V; Latorre, Roberta Valeria RV; Rodella, Luca L; Massella, Arianna A; Tomba, Francesco F; Bertini, Marina M; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2023-03-08

Variant appearance in text: CFTR: L997F

PubMed Link: 36982273

Variant Present in the following documents:

• ijms-24-05199.pdf

View BVdb publication page

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Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)

Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2022-12-20

Variant appearance in text: CFTR: L997F

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

View BVdb publication page

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Transcriptome analyses in infertile men reveal germ cell-specific expression and splicing patterns.

Life Science Alliance

Siebert-Kuss, Lara M LM; Krenz, Henrike H; Tekath, Tobias T; Wöste, Marius M; Di Persio, Sara S; Terwort, Nicole N; Wyrwoll, Margot J MJ; Cremers, Jann-Frederik JF; Wistuba, Joachim J; Dugas, Martin M; Kliesch, Sabine S; Schlatt, Stefan S; Tüttelmann, Frank F; Gromoll, Jörg J; Neuhaus, Nina N; Laurentino, Sandra S

Publication Date: 2023-02

Variant appearance in text: CFTR: 2991G>C; Leu997Phe

PubMed Link: 36446526

Variant Present in the following documents:

• LSA-2022-01633_review_history.pdf
• LSA-2022-01633.pdf

View BVdb publication page

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Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis.

Plos One

Berke, Gergő G; Gede, Noémi N; Szadai, Letícia L; Ocskay, Klementina K; Hegyi, Péter P; Sahin-Tóth, Miklós M; Hegyi, Eszter E

Publication Date: 2022

Variant appearance in text: CFTR: L997F

PubMed Link: 36264955

Variant Present in the following documents:

• Main text
• pone.0276397.pdf

View BVdb publication page

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Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report.

Respiratory Medicine Case Reports

Tkemaladze, Tinatin T; Kvaratskhelia, Eka E; Ghughunishvili, Mariam M; Lentze, Michael J MJ; Abzianidze, Elene E; Skrahina, Volha V; Rolfs, Arndt A

Publication Date: 2022

Variant appearance in text: CFTR: Leu997Phe

PubMed Link: 36238659

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.

International Journal Of Neonatal Screening

Bianchimani, Chiara C; Dolce, Daniela D; Centrone, Claudia C; Campana, Silvia S; Ravenni, Novella N; Orioli, Tommaso T; Camera, Erica E; Mergni, Gianfranco G; Fevola, Cristina C; Bonomi, Paolo P; Taccetti, Giovanni G; Terlizzi, Vito V

Publication Date: 2022-08-03

Variant appearance in text: CFTR: L997F

PubMed Link: 35997436

Variant Present in the following documents:

• Main text
• IJNS-08-00046.pdf

View BVdb publication page

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Expanding ACMG variant classification guidelines into a general framework.

Human Genomics

Masson, Emmanuelle E; Zou, Wen-Bin WB; Génin, Emmanuelle E; Cooper, David N DN; Le Gac, Gerald G; Fichou, Yann Y; Pu, Na N; Rebours, Vinciane V; Férec, Claude C; Liao, Zhuan Z; Chen, Jian-Min JM

Publication Date: 2022-08-16

Variant appearance in text: CFTR: L997F

PubMed Link: 35974416

Variant Present in the following documents:

• 40246_2022_Article_407.pdf

View BVdb publication page

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Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

Diagnostics (Basel, Switzerland)

Almes, Marion M; Spraul, Anne A; Ruiz, Mathias M; Girard, Muriel M; Roquelaure, Bertrand B; Laborde, Nolwenn N; Gottrand, Fréderic F; Turquet, Anne A; Lamireau, Thierry T; Dabadie, Alain A; Bonneton, Marjorie M; Thebaut, Alice A; Rohmer, Babara B; Lacaille, Florence F; Broué, Pierre P; Fabre, Alexandre A; Mention-Mulliez, Karine K; Bouligand, Jérôme J; Jacquemin, Emmanuel E; Gonzales, Emmanuel E

Publication Date: 2022-05-07

Variant appearance in text: CFTR: 2991G>C; Leu997Phe

PubMed Link: 35626323

Variant Present in the following documents:

• Main text
• diagnostics-12-01169.pdf

View BVdb publication page

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Downregulation of epithelial sodium channel (ENaC) activity in cystic fibrosis cells by epigenetic targeting.

Cellular And Molecular Life Sciences : Cmls

Blaconà, Giovanna G; Raso, Roberto R; Castellani, Stefano S; Pierandrei, Silvia S; Del Porto, Paola P; Ferraguti, Giampiero G; Ascenzioni, Fiorentina F; Conese, Massimo M; Lucarelli, Marco M

Publication Date: 2022-04-25

Variant appearance in text: CFTR: L997F

PubMed Link: 35462606

Variant Present in the following documents:

• 18_2022_Article_4190.pdf

View BVdb publication page

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Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology

Anglès, Frédéric F; Wang, Chao C; Balch, William E WE

Publication Date: 2022-04-13

Variant appearance in text: CFTR: L997F

PubMed Link: 35418593

Variant Present in the following documents:

• Main text
• 42003_2022_Article_3302.pdf

View BVdb publication page

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Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis.

Molecular Genetics & Genomic Medicine

Persico, Ilaria I; Feresin, Agnese A; Faleschini, Michela M; Fontana, Giorgia G; Sirchia, Fabio F; Faletra, Flavio F; La Bianca, Martina M; Suergiu, Sarah S; Morgutti, Marcello M; Maschio, Massimo M; D'Adamo, Adamo Pio AP; Raraigh, Karen S KS; Savoia, Anna A; Bottega, Roberta R

Publication Date: 2022-06

Variant appearance in text: CFTR: L997F

PubMed Link: 35348309

Variant Present in the following documents:

• MGG3-10-e1926.pdf

View BVdb publication page

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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: 2991G>C; Leu997Phe; rs1800111

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CFTR: L997F; rs1800111

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.

Cells

Angyal, Dora D; Bijvelds, Marcel J C MJC; Bruno, Marco J MJ; Peppelenbosch, Maikel P MP; de Jonge, Hugo R HR

Publication Date: 2021-12-24

Variant appearance in text: CFTR: L997F

PubMed Link: 35011616

Variant Present in the following documents:

• Main text
• cells-11-00054.pdf

View BVdb publication page

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Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.

Cells

Angyal, Dora D; Bijvelds, Marcel J C MJC; Bruno, Marco J MJ; Peppelenbosch, Maikel P MP; de Jonge, Hugo R HR

Publication Date: 2021-12-24

Variant appearance in text: CFTR: L997F

PubMed Link: 35011616

Variant Present in the following documents:

• Main text
• cells-11-00054.pdf

View BVdb publication page

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The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Balkan Medical Journal

Erdoğan, Murat M; Köse, Mehmet M; Pekcan, Sevgi S; Hangül, Melih M; Balta, Burhan B; Kiraz, Aslıhan A; Akıncı Gönen, Gizem G; Zamani, Ayşe Gül AG; Yıldırım, Mahmut Selam MS; Ramaslı Gürsoy, Tuğba T; Ezgu, Fatih F; Şişmanlar Eyüpoğlu, Tuğba T; Tana Aslan, Ayse A

Publication Date: 2021-11

Variant appearance in text: CFTR: 2991G>C; rs1800111

PubMed Link: 34860163

Variant Present in the following documents:

• bmj-38-6-357.pdf

View BVdb publication page

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CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family.

Asian Journal Of Andrology

Ghouchanatigh, Mahdieh Daliri MD; Khan, Ranjha R; Mojarrad, Majid M; Hameed, Uzma U; Zubair, Muhammad M; Waqas, Ahmed A; Jalali, Mohsen M; Kalantari, Mahmoudreza M; Shamsa, Ali A; Zhang, Huan H; Shi, Qing-Hua QH

Publication Date: 2022

Variant appearance in text: CFTR: 2991G>C; L997F; rs1800111

PubMed Link: 34755701

Variant Present in the following documents:

• Main text
• AJA-24-416.pdf

View BVdb publication page

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs1800111

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs1800111

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

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Association of the CFTR gene with asthma and airway mucus hypersecretion.

Plos One

Crespo-Lessmann, Astrid A; Bernal, Sara S; Del Río, Elisabeth E; Rojas, Ester E; Martínez-Rivera, Carlos C; Marina, Nuria N; Pallarés-Sanmartín, Abel A; Pascual, Silvia S; García-Rivero, Juan Luis JL; Padilla-Galo, Alicia A; Curto, Elena E; Cisneros, Carolina C; Serrano, José J; Baiget, Montserrat M; Plaza, Vicente V; ,

Publication Date: 2021

Variant appearance in text: CFTR: 2991G>C; Leu997Phe

PubMed Link: 34086689

Variant Present in the following documents:

• Main text
• pone.0251881.pdf

View BVdb publication page

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Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.

Genes

Wertheim-Tysarowska, Katarzyna K; Oracz, Grzegorz G; Rygiel, Agnieszka Magdalena AM

Publication Date: 2021-05-20

Variant appearance in text: CFTR: Leu997Phe

PubMed Link: 34065437

Variant Present in the following documents:

• Main text
• genes-12-00785.pdf

View BVdb publication page

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Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?

Genes

Mekki, Chadia C; Aissat, Abdel A; Mirlesse, Véronique V; Mayer Lacrosniere, Sophie S; Eche, Elsa E; Le Floch, Annick A; Whalen, Sandra S; Prud'Homme, Cecile C; Remus, Christelle C; Funalot, Benoit B; Castaigne, Vanina V; Fanen, Pascale P; de Becdelièvre, Alix A

Publication Date: 2021-04-29

Variant appearance in text: CFTR: 2991G>C; Leu997Phe; rs1800111

PubMed Link: 33946859

Variant Present in the following documents:

• Main text

View BVdb publication page

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Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.

Antibiotics (Basel, Switzerland)

Girón Moreno, Rosa María RM; García-Clemente, Marta M; Diab-Cáceres, Layla L; Martínez-Vergara, Adrián A; Martínez-García, Miguel Ángel MÁ; Gómez-Punter, Rosa Mar RM

Publication Date: 2021-04-23

Variant appearance in text: CFTR: L997F

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology

Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R

Publication Date: 2021

Variant appearance in text: CFTR: 2991G>C; Leu997Phe

PubMed Link: 33747920

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 6

View BVdb publication page

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Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.

Disease Markers

Cambraia, Amanda A; Junior, Mario Campos MC; Zembrzuski, Verônica Marques VM; Junqueira, Ricardo Magrani RM; Cabello, Pedro Hernán PH; de Cabello, Giselda Maria Kalil GMK

Publication Date: 2021

Variant appearance in text: CFTR: 2991G>C; Leu997Phe; rs1800111

PubMed Link: 33613790

Variant Present in the following documents:

• Main text

View BVdb publication page

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Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes

Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A

Publication Date: 2021-01-31

Variant appearance in text: CFTR: L997F

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.pdf

View BVdb publication page

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CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?

Diagnostics (Basel, Switzerland)

Terlizzi, Vito V; Padoan, Rita R; Claut, Laura L; Colombo, Carla C; Fabrizzi, Benedetta B; Lucarelli, Marco M; Bruno, Sabina Maria SM; Castaldo, Alice A; Bonomi, Paolo P; Taccetti, Giovanni G; Tosco, Antonella A

Publication Date: 2020-12-12

Variant appearance in text: CFTR: L997F

PubMed Link: 33322690

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: L997F

PubMed Link: 33262486

Variant Present in the following documents:

• Main text

View BVdb publication page

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Extensive CFTR Gene Analysis Revealed a Higher Occurrence of Cystic Fibrosis Transmembrane Regulator-Related Disorders (CFTR-RD) among CF Carriers.

Journal Of Clinical Medicine

Esposito, Maria Valeria MV; Aveta, Achille A; Comegna, Marika M; Cernera, Gustavo G; Iacotucci, Paola P; Carnovale, Vincenzo V; Taccetti, Giovanni G; Terlizzi, Vito V; Castaldo, Giuseppe G

Publication Date: 2020-11-27

Variant appearance in text: CFTR: L997F

PubMed Link: 33260873

Variant Present in the following documents:

• Main text
• jcm-09-03853.pdf

View BVdb publication page

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The histopathology of SPINK1-associated chronic pancreatitis.

Pancreatology : Official Journal Of The International Association Of Pancreatology (Iap) ... [Et Al.]

Jones, Terrell E TE; Bellin, Melena D MD; Yadav, Dhiraj D; Freeman, Martin L ML; Schwarzenberg, Sarah J SJ; Slivka, Adam A; Chennat, Jennifer S JS; Beilman, Gregory J GJ; Chinnakotla, Srinath S; Pruett, Timothy L TL; Kirchner, Varvara V; Humar, Abhinav A; Wijkstrom, Martin M; Zureikat, Amer H AH; Nikiforova, Marina N MN; Wald, Abigail I AI; Whitcomb, David C DC; Singhi, Aatur D AD

Publication Date: 2020-12

Variant appearance in text: CFTR: L997F

PubMed Link: 33097431

Variant Present in the following documents:

• Main text

View BVdb publication page

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Intestinal current measurement and nasal potential difference to make a diagnosis of cases with inconclusive CFTR genetics and sweat test.

Bmj Open Respiratory Research

Minso, Rebecca R; Schulz, Angela A; Dopfer, Christian C; Alfeis, Nadine N; Barneveld, Andrea van AV; Makartian-Gyulumyan, Lena L; Hansen, Gesine G; Junge, Sibylle S; Müller, Carsten C; Ringshausen, Felix C C FCC; Sauer-Heilborn, Annette A; Stanke, Frauke F; Stolpe, Cornelia C; Tamm, Stephanie S; Welte, Tobias T; Dittrich, Anna-Maria AM; Tümmler, Burkhard B

Publication Date: 2020-10

Variant appearance in text: CFTR: Leu997Phe

PubMed Link: 33020115

Variant Present in the following documents:

• Main text

View BVdb publication page

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Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.

Journal Of The American Heart Association

Jiang, Xuan X; Shao, Yanqiu Y; Araj, Faris G FG; Amin, Alpesh A AA; Greenberg, Benjamin M BM; Drazner, Mark H MH; Xing, Chao C; Mammen, Pradeep P A PPA

Publication Date: 2020-10-20

Variant appearance in text: CFTR: Leu997Phe; rs1800111

PubMed Link: 33003980

Variant Present in the following documents:

• JAH3-9-e016799-s001.pdf
• JAH3-9-e016799.pdf

View BVdb publication page

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Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.

Diagnostics (Basel, Switzerland)

Castaldo, Alice A; Cimbalo, Chiara C; Castaldo, Raimondo J RJ; D'Antonio, Marcella M; Scorza, Manuela M; Salvadori, Laura L; Sepe, Angela A; Raia, Valeria V; Tosco, Antonella A

Publication Date: 2020-08-08

Variant appearance in text: CFTR: L997F

PubMed Link: 32784480

Variant Present in the following documents:

• Main text
• diagnostics-10-00570.pdf

View BVdb publication page

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Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center.

Frontiers In Pediatrics

Santos Silva, Ermelinda E; Almeida, Alexandra A; Frutuoso, Simão S; Martins, Esmeralda E; Valente, Maria João MJ; Santos-Silva, Alice A; Lopes, Ana Isabel AI

Publication Date: 2020

Variant appearance in text: CFTR: 2991G>C

PubMed Link: 32695736

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy.

Diagnostics (Basel, Switzerland)

Taccetti, Giovanni G; Botti, Matteo M; Terlizzi, Vito V; Cavicchi, Maria Chiara MC; Neri, Anna Silvia AS; Galici, Valeria V; Mergni, Gianfranco G; Centrone, Claudia C; Peroni, Diego G DG; Festini, Filippo F

Publication Date: 2020-07-01

Variant appearance in text: CFTR: L997F

PubMed Link: 32630227

Variant Present in the following documents:

• diagnostics-10-00446.pdf

View BVdb publication page

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Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.

Genes

Bienvenu, Thierry T; Lopez, Maureen M; Girodon, Emmanuelle E

Publication Date: 2020-06-04

Variant appearance in text: CFTR: 2991G>C; L997F

PubMed Link: 32512765

Variant Present in the following documents:

• Main text
• genes-11-00619.pdf

View BVdb publication page

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.

Emc. Pediatria

Noël, S S; Sermet-Gaudelus, I I

Publication Date: 2020-03

Variant appearance in text: CFTR: 2991G>C; L997F

PubMed Link: 32288518

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Abstracts from the 25th Italian Congress of Cystic Fibrosis and the 15th National Congress of Cystic Fibrosis Italian Society : Assago, Milan. 10 - 12 October 2019.

Italian Journal Of Pediatrics

Publication Date: 2020-04-01

Variant appearance in text: CFTR: L997F

PubMed Link: 32234058

Variant Present in the following documents:

• Main text

View BVdb publication page

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Essential oils against bacterial isolates from cystic fibrosis patients by means of antimicrobial and unsupervised machine learning approaches.

Scientific Reports

Ragno, Rino R; Papa, Rosanna R; Patsilinakos, Alexandros A; Vrenna, Gianluca G; Garzoli, Stefania S; Tuccio, Vanessa V; Fiscarelli, ErsiliaVita E; Selan, Laura L; Artini, Marco M

Publication Date: 2020-02-14

Variant appearance in text: CFTR: L997F

PubMed Link: 32060344

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Plos One

Ivey, Gabrianne G; Youker, Robert T RT

Publication Date: 2020

Variant appearance in text: CFTR: L997F

PubMed Link: 31978131

Variant Present in the following documents:

• Main text
• pone.0227668.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: CFTR: 2991G>C; Leu997Phe; rs1800111

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Chronic pancreatitis in children: treat like an adult?

Bmj Case Reports

Pereira, Miguel Paiva MP; Santos, Filipa F; Neto, Ana Serrão AS; Canena, Jorge J

Publication Date: 2019-11-21

Variant appearance in text: CFTR: 2991G>C; Leu997Phe

PubMed Link: 31753827

Variant Present in the following documents:

• Main text

View BVdb publication page

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