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| Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation. Journal of the Endocrine Society 2023 1 7 (3): bvac182. Son Rachel G, Kandasamy Balamurugan, Bowden Tiana, Azzam Ruba K, Oakes Scott A, Philipson Louis H, Greeley Siri Atma |
| Beyond the Local Basic Panel: Full CFTR Gene Analysis Identifies Novel CF Mutation Missed on Standard Testing in an Arabic Child. Cureus 2023 2 15 (1): e33337. Francis Nader, Yavuz Sinan, Elnazir Bas |
| CHARACTERISTICS OF CHRONIC RHINOSINUSITIS PHENOTYPES IN PATIENTS UNDERGOING FUNCTIONAL ENDOSCOPIC SINUS SURGERY: AN OBSERVATIONAL COHORT RETROSPECTIVE STUDY. Acta clinica Croatica 2023 2 61 (2): 342-348. Radeti? Martina, Mattar Jeffry, Košec Andro, Bacan Filip, Baudoin Tomisl |
| Characterization of CFTR mutations in people with cystic fibrosis and severe liver disease who are not eligible for CFTR modulators. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2023 2 . Colombo Carla, Ramm Grant A, Lindblad Anders, Corti Fabiola, Porcaro Luigi, Alghisi Federico, Asherova Irina, Evans Helen, Kashirskaya Nataliya, Kondratyeva Elena, Lewindon Peter J, de Monestrol Isabelle, Oliver Mark, Ooi Chee Y, Padoan Rita, Shankar Sahana, Alicandro Gianfran |
| Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China. Scientific reports 2023 1 13 (1): 64. Qu Xiaowei, Li Lingyi, Cui Chenchen, Feng Ke, Xia Yanqing, Wan Feng, Zhang Cuilian, Guo Haib |
| Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia. Current opinion in lipidology 2023 2 34 (2): 59-69. Hang Shyann M T, Hegele Robert A, Berberich Amanda |
| Genetics and epigenetics of chronic rhinosinusitis. The Journal of allergy and clinical immunology 2023 2 . Lal Devyani, Brar Tripti, Ramkumar Shreya Pusapadi, Li Jingyun, Kato Atsushi, Zhang L |
| Lower Expression of CFTR Is Associated with Higher Mortality in a Meta-Analysis of Individuals with Colorectal Cancer. Cancers 2023 2 15 (3): . Scott Patricia, Wang Shuo, Onyeaghala Guillaume, Pankratz Nathan, Starr Timothy, Prizment Anna |
| Prevalence of CFTR variants in PID patients with bronchiectasis - an important modifying co-factor. The Journal of allergy and clinical immunology 2023 2 . Lawless Dylan, Allen Hana Lango, Thaventhiran James E D, Goddard Sarah, Burren Oliver S, Robson Evie, , Peckham Daniel, Smith Kenneth G C, Savic Sini |
| The coexistence of TRPV6 variants with other pancreatitis-associated genes affects pediatric-onset pancreatitis. Journal of pediatric gastroenterology and nutrition 2023 1 . Hirai Saeko, Suzuki Mitsuyoshi, Sakurai Yumiko, Nakano Satoshi, Minowa Kei, Eguchi Hidetake, Okazaki Yasushi, Shimizu Toshia |
| The inequity of targeted cystic fibrosis reproductive carrier screening tests in Australia. Prenatal diagnosis 2022 Dec . Shum Bennett O V, Sng Letitia M F, Ruseckaite Rasa, Henner Ilya, Twine Natalie, Bauer Denis C, Wilgen Urs, Pretorius Carel, Barahona Paulette, Ungerer Jacobus P J, Bennett Gle |
| False negatives in the newborn screening for Cystic Fibrosis in Western Andalusia: Results from a 10- year experience. Pediatric pulmonology 2022 Oct . Escudero-Ávila Rocío, Pecellín Carmen Delgado, Valera María José Moreno, Hernández Laura Carrasco, Gallego María Esther Quintana, Pecellín Isabel Delga |
| Identification of risk genes in Chinese nonobstructive azoospermia patients based on whole-exome sequencing. Asian journal of andrology 2022 Oct . Liu Yu-Jun, Zhuang Xin-Jie, An Jian-Ting, Jiang Hui, Li Rong, Qiao Jie, Yan Li-Ying, Zhi |
| Frequencies of pathogenic CFTR variants in Greek cystic fibrosis patients with allergic bronchopulmonary aspergillosis and Aspergillus fumigatus chronic colonization: A retrospective cohort study. Journal de mycologie medicale 2022 Aug 33 (1): 101326. Noni Maria, Katelari Anna, Poulou Myrto, Ioannidis Diomidis, Kapasouri Efthymia-Maria, Tzetis Maria, Doudounakis Stavros-Eleftherios, Kanaka-Gantenbein Christina, Spoulou Va |
| Assessing the health risk of living near composting facilities on lung health, fungal and bacterial disease in cystic fibrosis: a UK CF Registry study. Environmental health : a global access science source 2022 12 21 (1): 130. Khan Muhammad Saleem, Douglas Philippa, Hansell Anna L, Simmonds Nicholas J, Piel Frédéric |
| Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis. PloS one 2022 17 (10): e0276397. Berke Gerg?, Gede Noémi, Szadai Letícia, Ocskay Klementina, Hegyi Péter, Sahin-Tóth Miklós, Hegyi Eszt |
| Case report of a pediatric Chinese cystic fibrosis patient with the c.1521_1523delCTT/c.3874-4522A>G genotype. Pediatric pulmonology 2022 11 58 (2): 556-558. Su Yanyan, Tang Yu, Tang Xiaolei, Shen Yuel |
| Clinical efficacy of elexacaftor-tezacaftor-ivacaftor in an adolescent with homozygous G85E cystic fibrosis. Respiratory medicine case reports 2022 11 40 101775. Stekolchik Elena, Saul David, Chidekel Aar |
| Congenital absence of the vas deferens with hypospadias or without hypospadias: Phenotypic findings and genetic considerations. Frontiers in genetics 2022 11 13 1035468. Fang Jianzheng, Wang Xiaoyi, Sun Xueping, Cui Yugui, Diao Feiyang, Yang Xiao |
| Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry. Annals of the American Thoracic Society 2022 11 . Salinas Danieli B, Wee Choo Phei, Bailey Barbara, Raraigh Karen, Conrad Dougl |
| Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems. Balkan journal of medical genetics : BJMG 2022 10 24 (2): 25-31. Tanriverdi S, Polat M, Onay |
| Elevated Levels of Toxic Bile Acids in Serum of Cystic Fibrosis Patients with CFTR Mutations Causing Pancreatic Insufficiency. International journal of molecular sciences 2022 10 23 (20): . Tabori Harold, Schneider Jochen, Lüth Stefan, Zagoya Carlos, Barucha Anton, Lehmann Thomas, Kauf Eberhard, Barth Astrid, Mainz Jochen |
| High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification. HGG advances 2022 11 4 (1): 100156. Mastromatteo Scott, Chen Angela, Gong Jiafen, Lin Fan, Thiruvahindrapuram Bhooma, Sung Wilson W L, Whitney Joe, Wang Zhuozhi, Patel Rohan V, Keenan Katherine, Halevy Anat, Panjwani Naim, Avolio Julie, Wang Cheng, Côté-Maurais Guillaume, Bégin Stéphanie, Adam Damien, Brochiero Emmanuelle, Bjornson Candice, Chilvers Mark, Price April, Parkins Michael, van Wylick Richard, Mateos-Corral Dimas, Hughes Daniel, Smith Mary Jane, Morrison Nancy, Tullis Elizabeth, Stephenson Anne L, Wilcox Pearce, Quon Bradley S, Leung Winnie M, Solomon Melinda, Sun Lei, Ratjen Felix, Strug Lisa |
| Identification of cystic fibrosis transmembrane conductance regulator as a prognostic marker for juvenile myelomonocytic leukemia via the whole-genome bisulfite sequencing of monozygotic twins and data mining. Translational pediatrics 2022 10 11 (9): 1521-1533. Yi Tian-Tian, Yu Jie-Ming, Liang Yi-Yang, Wang Si-Qi, Lin Guan-Chuan, Wu Xue-Do |
| Multicenter Surveillance of Cystic Fibrosis in Korean Children. Allergy, asthma & immunology research 2022 9 14 (5): 494-504. Kim Hyung Young, Hong Soo-Jong, Ahn Kangmo, Suh Dong In, Noh Shin Hye, Kim Soo Yeon, Yu Jinho, Ko Jung Min, Lee Min Goo, Kim Kyung W |
| Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis. American journal of human genetics 2022 10 109 (10): 1894-1908. Aksit Melis A, Ling Hua, Pace Rhonda G, Raraigh Karen S, Onchiri Frankline, Faino Anna V, Pagel Kymberleigh, Pugh Elizabeth, Stilp Adrienne M, Sun Quan, Blue Elizabeth E, Wright Fred A, Zhou Yi-Hui, Bamshad Michael J, Gibson Ronald L, Knowles Michael R, Cutting Garry R, Blackman Scott M, |
| Rate of Lung Function Decline in People with Cystic Fibrosis Having a Residual Function Gene Mutation. Pulmonary therapy 2022 11 8 (4): 385-395. Sawicki Gregory S, Konstan Michael W, McKone Edward F, Moss Richard B, Lubarsky Barry, Suthoff Ellison, Millar Stefanie J, Pasta David J, Mayer-Hamblett Nicole, Goss Christopher H, Morgan Wayne J, Duncan Margaret E, Yang Yooju |
| Screening by high-throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies. Journal of cellular and molecular medicine 2022 11 26 (23): 5943-5947. de Melo Ana Cristina Vieira, de Souza Karla Simone Costa, da Silva Heglayne Pereira Vital, Maia Jussara Melo de Cerqueira, Dantas Vera Maria, Bezerra João Felipe, de Rezende Adriana Augus |
| Targeted Locus Amplification and Haplotyping. Methods in molecular biology (Clifton, N.J.) 2022 11 2590 31-48. Lefferts Juliet W, Boersma Vera, Hagemeijer Marne C, Hajo Karima, Beekman Jeffrey M, Splinter Er |
| Vitamin Status in Children with Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutation. Nutrients 2022 11 14 (21): . Wysocka-Wojakiewicz Paulina, Wo? Halina, Wielkoszy?ski Tomasz, Pyziak-Skupie? Aleksandra, Grzybowska-Chlebowczyk Urszu |
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 22, 2023
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