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Nader Francis, Sinan Yavuz & Basil Elnazir. (2023) Beyond the Local Basic Panel: Full CFTR Gene Analysis Identifies Novel CF Mutation Missed on Standard Testing in an Arabic Child. Cureus.
Crossref
Crossref
Andrea Rossi & Zacharias Kontarakis. (2021) Beyond Mendelian Inheritance: Genetic Buffering and Phenotype Variability. Phenomics 2:2, pages 79-87.
Crossref
Crossref
Sophie Gohy, Alexandra Moeremans, Charles Pilette & Amandine Collin. (2021) Immunoglobulin A Mucosal Immunity and Altered Respiratory Epithelium in Cystic Fibrosis. Cells 10:12, pages 3603.
Crossref
Crossref
Christine M. Bojanowski, Shiping Lu & Jay K. Kolls. (2021) Mucosal Immunity in Cystic Fibrosis. The Journal of Immunology 207:12, pages 2901-2912.
Crossref
Crossref
Lăcrămioara Ionela Butnariu, Elena Țarcă, Elena Cojocaru, Cristina Rusu, Ștefana Maria Moisă, Maria-Magdalena Leon Constantin, Eusebiu Vlad Gorduza & Laura Mihaela Trandafir. (2021) Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine. Journal of Clinical Medicine 10:24, pages 5821.
Crossref
Crossref
Joice de Faria Poloni, Thaiane Rispoli, Maria Lucia Rossetti, Cristiano Trindade & José Eduardo Vargas. (2021) Cystic Fibrosis: Systems Biology Analysis from Homozygous p.Phe508del Variant Patients’ Samples Reveals Perturbations in Tissue-Specific Pathways. BioMed Research International 2021, pages 1-16.
Crossref
Crossref
Shafaq Ramzan, Stephanie Tennstedt, Muhammad Tariq, Sheraz Khan, Hafiza Noor Ul Ayan, Aamir Ali, Matthias Munz, Holger Thiele, Asad Aslam Korejo, Abdul Razzaq Mughal, Syed Zahid Jamal, Peter Nürnberg, Shahid Mahmood Baig, Jeanette Erdmann & Ilyas Ahmad. (2021) A Novel Missense Mutation in TNNI3K Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani Family. Genes 12:8, pages 1282.
Crossref
Crossref
Aubrey Milunsky & Jeff M. MilunskyJeff M. Milunsky. 2021. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus
572
610
.
Ameneh Sharifi & Nejat Mahdieh. (2020)
HBB
mutations and HbA2 level: Escaping the carrier screening programs
. Clinical Case Reports 9:2, pages 973-977.
Crossref
Crossref
Ichcha Manipur, Maurizio Giordano, Marina Piccirillo, Seetharaman Parashuraman & Lucia Maddalena. (2021) Community Detection in Protein-Protein Interaction Networks and Applications. IEEE/ACM Transactions on Computational Biology and Bioinformatics, pages 1-1.
Crossref
Crossref
Noam Auslander, Daniel M Ramos, Ivette Zelaya, Hiren Karathia, Thomas O. Crawford, Alejandro A Schäffer, Charlotte J Sumner & Eytan Ruppin. (2020) The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases. Molecular Systems Biology 16:12.
Crossref
Crossref
Shruti V Palakuzhiyil, Rita Christopher & Sadanandavalli Retnaswami Chandra. (2020) Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy. World Journal of Biological Chemistry 11:3, pages 99-111.
Crossref
Crossref
Marta Molina, Alberto Yoldi, Purificación Navas, Miguel Gañán, Ángel Vaquero, Jose L. del Pico, Juan P. Ramírez & Jose A. Castilla. (2020) Carriers of cystic fibrosis among sperm donors: complete CFTR gene analysis versus CFTR genotyping. Fertility and Sterility 114:3, pages 524-534.
Crossref
Crossref
Saman Zeeshan, Ruoyun Xiong, Bruce T Liang & Zeeshan Ahmed. (2020) 100 Years of evolving gene–disease complexities and scientific debutants. Briefings in Bioinformatics 21:3, pages 885-905.
Crossref
Crossref
Rebecca A S Palu, Elaine Ong, Kaitlyn Stevens, Shani Chung, Katie G Owings, Alan G Goodman & Clement Y Chow. (2019)
Natural Genetic Variation Screen in
Drosophila
Identifies Wnt Signaling, Mitochondrial Metabolism, and Redox Homeostasis Genes as Modifiers of Apoptosis
. G3 Genes|Genomes|Genetics 9:12, pages 3995-4005.
Crossref
Crossref
Matthias Welsner, Svenja Straßburg, Christian Taube & Sivagurunathan Sutharsan. (2019) Use of ivacaftor in late diagnosed cystic fibrosis monozygotic twins heterozygous for F508del and R117H-7T – a case report. BMC Pulmonary Medicine 19:1.
Crossref
Crossref
Franca Anglani, Lisa Gianesello, Lada Beara‐Lasic & John Lieske. (2019) Dent disease: A window into calcium and phosphate transport. Journal of Cellular and Molecular Medicine 23:11, pages 7132-7142.
Crossref
Crossref
Barry J. Maron, Martin S. Maron, Bradley A. Maron & Joseph Loscalzo. (2019) Moving Beyond the Sarcomere to Explain Heterogeneity in Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology 73:15, pages 1978-1986.
Crossref
Crossref
Dominique Debray, Harriet Corvol & Chantal Housset. (2019) Modifier genes in cystic fibrosis-related liver disease. Current Opinion in Gastroenterology 35:2, pages 88-92.
Crossref
Crossref
Guillermo Carvajal, Nicolás Gastón Brukman, Mariana Weigel Muñoz, María A. Battistone, Vanesa A. Guazzone, Masahito Ikawa, Miyata Haruhiko, Livia Lustig, Sylvie Breton & Patricia S. Cuasnicu. (2018) Impaired male fertility and abnormal epididymal epithelium differentiation in mice lacking CRISP1 and CRISP4. Scientific Reports 8:1.
Crossref
Crossref
A. V. Goryainova, P. V. Shumilov, N. Yu. KashirskayaS. Yu. Semykin. (2018) THE ROLE OF CONNECTIVE TISSUE DYSPLASIA IN CHILDREN’S CYSTIC FIBROSIS. CLINICAL AND GENETIC ASPECTS. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 63:5, pages 20-28.
Crossref
Crossref
Richard F. Campbell, Patrick T. McGrath & Annalise B. Paaby. (2018) Analysis of Epistasis in Natural Traits Using Model Organisms. Trends in Genetics 34:11, pages 883-898.
Crossref
Crossref
Abdulrahman AlsultanAhmed M. Al-SulimanAamer AleemFarjah H. AlGahtaniMajid Alfadhel. (2018) Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease. Genetic Testing and Molecular Biomarkers 22:9, pages 561-567.
Crossref
Crossref
Shubhrajit Roy, Prosenjit Pal, Sampurna Ghosh, Sreyashi Bhattacharya, Shyamal Kumar Das, Prasanta Kumar Gangopadhyay, Ashish Bavdekar, Kunal Ray, Mainak Sengupta & Jharna Ray. (2018) Potential Role of Brain-Derived Neurotrophic Factor and Dopamine Receptor D2 Gene Variants as Modifiers for the Susceptibility and Clinical Course of Wilson’s Disease. NeuroMolecular Medicine 20:3, pages 401-408.
Crossref
Crossref
Wanda K. O'NealMichael R. Knowles. (2018) Cystic Fibrosis Disease Modifiers: Complex Genetics Defines the Phenotypic Diversity in a Monogenic Disease. Annual Review of Genomics and Human Genetics 19:1, pages 201-222.
Crossref
Crossref
Rebecca A. S. Palu & Clement Y. Chow. (2018) Baldspot/ELOVL6 is a conserved modifier of disease and the ER stress response. PLOS Genetics 14:8, pages e1007557.
Crossref
Crossref
Mariana Weigel Muñoz, María A Battistone, Guillermo Carvajal, Julieta A Maldera, Ludmila Curci, Pablo Torres, Daniel Lombardo, Omar P Pignataro, Vanina G Da Ros & Patricia S Cuasnicú. (2018) Influence of the genetic background on the reproductive phenotype of mice lacking Cysteine-Rich Secretory Protein 1 (CRISP1)†. Biology of Reproduction 99:2, pages 373-383.
Crossref
Crossref
Elena Sánchez, Luis J. Azcona & Coro Paisán-Ruiz. (2018) Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways. Molecular Neurobiology 55:8, pages 6734-6754.
Crossref
Crossref
Stephanie V. N. Pereira, Jose D. Ribeiro, Carmen S. Bertuzzo & Fernando A. L. Marson. (2018)
Interaction among variants in the
SLC
gene family (
SLC6A14
,
SLC26A9
,
SLC11A1
, and
SLC9A3
) and
CFTR
mutations with clinical markers of cystic fibrosis
. Pediatric Pulmonology 53:7, pages 888-900.
Crossref
Crossref
Gillian S. Townend, Friederike Ehrhart, Henk J. van Kranen, Mark Wilkinson, Annika Jacobsen, Marco Roos, Egon L. Willighagen, David van Enckevort, Chris T. Evelo & Leopold M. G. Curfs. (2018)
MECP2
variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases
. Human Mutation 39:7, pages 914-924.
Crossref
Crossref
Amber R. Philp, Texia T. Riquelme, Pamela Millar-Büchner, Rodrigo González, Francisco V. Sepúlveda, L. Pablo Cid & Carlos A. Flores. (2018) Kcnn4 is a modifier gene of intestinal cystic fibrosis preventing lethality in the Cftr-F508del mouse. Scientific Reports 8:1.
Crossref
Crossref
Fernando A.L. Marson. (2018) Disease-modifying genetic factors in cystic fibrosis. Current Opinion in Pulmonary Medicine 24:3, pages 296-308.
Crossref
Crossref
C. Deltas. (2018) Digenic inheritance and genetic modifiers. Clinical Genetics 93:3, pages 429-438.
Crossref
Crossref
Friederike Ehrhart, Nasim B. Sangani & Leopold M.G. Curfs. (2018) Current developments in the genetics of Rett and Rett-like syndrome. Current Opinion in Psychiatry 31:2, pages 103-108.
Crossref
Crossref
Katherine Drabiak. (2021) Untangling the Promises of Human Genome Editing. Journal of Law, Medicine & Ethics 46:4, pages 991-1009.
Crossref
Crossref
Philippe Klee, Mirjam Dirlewanger, Vanessa Lavallard, Valerie A. McLin, Anne Mornand, Nadine Pernin, Laetitia-Marie Petit, Paola M. Soccal, Barbara E. Wildhaber, Urs Zumsteg, Jean-Louis Blouin, Thierry Berney & Valerie M. Schwitzgebel. (2018) Combined Pancreatic Islet-Lung-Liver Transplantation in a Pediatric Patient with Cystic Fibrosis-Related Diabetes. Hormone Research in Paediatrics 90:4, pages 270-274.
Crossref
Crossref
Milena Magalhães, Isabelle Rivals, Mireille Claustres, Jessica Varilh, Mélodie Thomasset, Anne Bergougnoux, Laurent Mely, Sylvie Leroy, Harriet Corvol, Loïc Guillot, Marlène Murris, Emmanuelle Beyne, Davide Caimmi, Isabelle Vachier, Raphaël Chiron & Albertina De Sario. (2017) DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosis. Clinical Epigenetics 9:1.
Crossref
Crossref
Carlos Eduardo G. Amorim, Ziyue Gao, Zachary Baker, José Francisco Diesel, Yuval B. Simons, Imran S. Haque, Joseph Pickrell & Molly Przeworski. (2017) The population genetics of human disease: The case of recessive, lethal mutations. PLOS Genetics 13:9, pages e1006915.
Crossref
Crossref
Stéphanie Villa-Nova Pereira, José Dirceu Ribeiro, Carmen Sílvia Bertuzzo & Fernando Augusto Lima Marson. (2017) Association of clinical severity of cystic fibrosis with variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1 and SLC9A3). Gene 629, pages 117-126.
Crossref
Crossref
Michael S. D. Kormann, Alexander Dewerth, Felizitas Eichner, Praveen Baskaran, Andreas Hector, Nicolas Regamey, Dominik Hartl, Rupert Handgretinger & Justin S. Antony. (2017) Transcriptomic profile of cystic fibrosis patients identifies type I interferon response and ribosomal stalk proteins as potential modifiers of disease severity. PLOS ONE 12:8, pages e0183526.
Crossref
Crossref
Ching-Wan Lam, Ka-Sing Wong, Ho-Wan Leung & Chun-Yiu Law. (2016) Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations. European Journal of Human Genetics 25:2, pages 192-199.
Crossref
Crossref
Ileena Mitra, Alinoë Lavillaureix, Erika Yeh, Michela Traglia, Kathryn Tsang, Carrie E. Bearden, Katherine A. Rauen & Lauren A. Weiss. (2017) Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders. PLOS Genetics 13:1, pages e1006516.
Crossref
Crossref
Jonas Eckrich, Ulrich M. Zissler, Friederike Serve, Patricia Leutz, Christina Smaczny, Sabina Schmitt-Grohé, Daniela Fussbroich, Ralf Schubert, Stefan Zielen & Olaf Eickmeier. (2017) Airway inflammation in mild cystic fibrosis. Journal of Cystic Fibrosis 16:1, pages 107-115.
Crossref
Crossref
Nauman Chaudary & Michael S. Schechter. 2017. Treatment of Cystic Fibrosis and Other Rare Lung Diseases. Treatment of Cystic Fibrosis and Other Rare Lung Diseases
3
20
.
Michael D. Waller & Nicholas J. Simmonds. (2016) Phenotypic variability of R117H-CFTR expression within monozygotic twins. Paediatric Respiratory Reviews 20, pages 21-23.
Crossref
Crossref
Larissa Lazzarini Furlan, Fernando Augusto Lima Marson, José Dirceu Ribeiro, Carmen Sílvia Bertuzzo, João Batista Salomão Junior & Dorotéia Rossi Silva Souza. (2016) IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability. Human Genetics 135:8, pages 881-894.
Crossref
Crossref
Stephanie Demeyer, Kris De Boeck, Peter Witters & Katrien Cosaert. (2016) Beyond pancreatic insufficiency and liver disease in cystic fibrosis. European Journal of Pediatrics 175:7, pages 881-894.
Crossref
Crossref
Guido Veit, Kathryn Oliver, Pirjo M. Apaja, Doranda Perdomo, Aurélien Bidaud-Meynard, Sheng-Ting Lin, Jingyu Guo, Mert Icyuz, Eric J. Sorscher, John L. Hartman & Gergely L. Lukacs. (2016) Ribosomal Stalk Protein Silencing Partially Corrects the ΔF508-CFTR Functional Expression Defect. PLOS Biology 14:5, pages e1002462.
Crossref
Crossref
Yuelin Shen, Jinrong Liu, Lili Zhong, Peter J. MogayzelJr.Jr., Pamela L. Zeitlin, Patrick R. Sosnay & Shunying Zhao. (2016) Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children. The Journal of Pediatrics 171, pages 269-276.e1.
Crossref
Crossref
Hitoshi Sakimoto, Masayuki Nakamura, Omi Nagata, Izumi Yokoyama & Akira Sano. (2016) Phenotypic abnormalities in a chorea-acanthocytosis mouse model are modulated by strain background. Biochemical and Biophysical Research Communications 472:1, pages 118-124.
Crossref
Crossref
Clement Y. Chow, Keegan J.P. Kelsey, Mariana F. Wolfner & Andrew G. Clark. (2016)
Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in
Drosophila
. Human Molecular Genetics 25:4, pages 651-659.
Crossref
Crossref
Jillian McKee, Joseph Majure, Hans Georg Bock & George Moll. (2016) CF Patient’s Pneumothoraxes Unique Genes. Global Pediatric Health 3, pages 2333794X1665482.
Crossref
Crossref
Carmen A. Argmann, Sander M. Houten, Jun Zhu & Eric E. Schadt. (2016) A Next Generation Multiscale View of Inborn Errors of Metabolism. Cell Metabolism 23:1, pages 13-26.
Crossref
Crossref
Davide Visigalli, Patrizio Castagnola, Giovanna Capodivento, Alessandro Geroldi, Emilia Bellone, Gianluigi Mancardi, Davide Pareyson, Angelo Schenone & Lucilla Nobbio. (2016)
Alternative Splicing in the Human
PMP22
Gene: Implications in CMT1A Neuropathy
. Human Mutation 37:1, pages 98-109.
Crossref
Crossref
Aubrey Milunsky, Clinton Baldwin & Jeff Milunsky. 2015. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus
380
418
.
Wayne W. Grody. 2015. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus
700
717
.
. (2015) Genetic pathways explored for role in cystic fibrosis. American Journal of Medical Genetics Part A 167:6, pages ix-x.
Crossref
Crossref
Su Ru Lin, Chi-Jiunn Pan, Brian C. Mansfield & Janice Yang Chou. (2015) Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency. Molecular Genetics and Metabolism 114:1, pages 41-45.
Crossref
Crossref