HuGE Literature Finder
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| The relationship between common mutations in CFTR, AR genes, Y chromosome microdeletions and karyotyping abnormalities with very severe oligozoospermia in Iranian men. Genes & genomics 2022 Aug . Jafari Leyla, Safinejad Kyumars, Nasiri Mahboobeh, Heidari Mansour, Houshmand Masso |
| Severe Genotype, Pancreatic Insufficiency and Low Dose of Pancreatic Enzymes Associate with Abnormal Serum Sterol Profile in Cystic Fibrosis. Biomolecules 2021 Feb 11 (2): . Drzyma?a-Czy? S?awomira, Krzy?anowska-Jankowska Patrycja, Dziedzic Krzysztof, Lisowska Aleksandra, Kurek Szymon, Go?dzik-Spychalska Joanna, Kononets Victoria, Wo?niak Dagmara, M?dry Edyta, Walkowiak Jaros? |
| Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed? Genes 2021 5 12 (5): . Mekki Chadia, Aissat Abdel, Mirlesse Véronique, Mayer Lacrosniere Sophie, Eche Elsa, Le Floch Annick, Whalen Sandra, Prud'Homme Cecile, Remus Christelle, Funalot Benoit, Castaigne Vanina, Fanen Pascale, de Becdelièvre Al |
| Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients. Human reproduction (Oxford, England) 2020 12 36 (3): 551-559. Rudnik-Schöneborn S, Messner M, Vockel M, Wirleitner B, Pinggera G-M, Witsch-Baumgartner M, Murtinger M, Kliesch S, Swoboda M, Sänger N, Zschocke J, Tüttelmann |
| Delayed age at menarche in chronic respiratory diseases. European journal of clinical investigation 2020 11 51 (5): e13461. Gaudino Rossella, Dal Ben Sarah, Cavarzere Paolo, Volpi Sonia, Piona Claudia, Boner Attilio, Antoniazzi Franco, Piacentini Giorg |
| Serum-Based Proteomics Profiling in Adult Patients with Cystic Fibrosis. International journal of molecular sciences 2020 10 21 (19): . Benabdelkamel Hicham, Alamri Hanadi, Okla Meshail, Masood Afshan, Abdel Jabar Mai, Alanazi Ibrahim O, Alfadda Assim A, Nizami Imran, Dasouki Majed, Abdel Rahman Anas |
| CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep . Cai Hongcai, Qing Xingrong, Niringiyumukiza Jean Damascene, Zhan Xuxin, Mo Dunsheng, Zhou Yuanzhong, Shang Xuej |
| Continuous glucose monitoring to evaluate glycaemic abnormalities in cystic fibrosis. Archives of disease in childhood 2018 1 103 (6): 592-596. Zorrón Mei Hsia Pu Mariana, Gonçalves Aline Cristina, Minnicucci Walter José, Morcillo André Moreno, Ribeiro José Dirceu, Ribeiro Antonio Fernan |
| Primary sclerosing cholangitis is associated with abnormalities in CFTR. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 5 17 (5): 666-671. Werlin Steven, Scotet Virginie, Uguen Kevin, Audrezet Marie-Pierre, Cohen Michael, Yaakov Yasmin, Safadi Rifaat, Ilan Yaron, Konikoff Fred, Galun Eitan, Mizrahi Meir, Slae Mordechai, Sayag Shirley, Cohen-Cymberknoh Malena, Wilschanski Michael, Ferec Clau |
| Determinants of Serum Glycerophospholipid Fatty Acids in Cystic Fibrosis. International journal of molecular sciences 2017 Jan 18 (1): . Drzyma?a-Czy? S?awomira, Krzy?anowska Patrycja, Koletzko Berthold, Nowak Jan, Mi?kiewicz-Chotnicka Anna, Moczko Jerzy A, Lisowska Aleksandra, Walkowiak Jaros? |
| Early-Life Pseudomonas aeruginosa Infection in Cystic Fibrosis and Lung Disease Progression. Global pediatric health 2017 11 4 2333794X17738465. Petrocheilou Argyri, Papagrigoriou-Theodoridou Maria, Michos Athanasios, Doudounakis Stavros-Eleftherios, Loukou Ioanna, Kaditis Athanasi |
| [Genetic aspects of male infertility]. Georgian medical news 2014 Apr (229): 21-5. Authors are not available |
| [Andrological description of a population of azoospermic men with agenesis of the vas deferens]. Progrès en urologie : journal de l'Association française d'urologie et de la Société française d'urologie 2014 Feb 24 (2): 132-7. Bouyé S, Marcelli F, Ghoneim T, Lemaitre L, Robin G, Mitchell V, Lalau G, Rigot J |
| Clinical and prognostic importance of chromosomal abnormalities, Y chromosome microdeletions, and CFTR gene mutations in individuals with azoospermia or severe oligospermia. Turkish journal of medical sciences 2014 44 (2): 347-51. Ocak Zeynep, Üyetüork U?ur, Dinçer Muhammet Mur |
| Genetic prevalence and characteristics in children with recurrent pancreatitis. Journal of pediatric gastroenterology and nutrition 2012 May 54 (5): 645-50. Sultan Mutaz, Werlin Steven, Venkatasubramani Narayan |
| The need for vigilance: the case of a false-negative newborn screen for cystic fibrosis. Pediatrics 2011 Aug 128 (2): e446-9. Dunn Christina T, Skrypek Mary M, Powers Amy L R, Laguna Theresa |
| Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks. Biochemical and biophysical research communications 2009 Mar 380 (3): 548-53. Sato Naoyuki, Nakayama Tomohiro, Mizutani Yoshihiro, Yuzawa Mitsu |
| Asthma and pulmonary function abnormalities in heterozygotes for cystic fibrosis transmembrane regulator gene mutations. International journal of clinical and experimental medicine 2008 1 (4): 345-9. Douros Konstantinos, Loukou Ioanna, Doudounakis Stavros, Tzetis Maria, Priftis Kostas N, Kanavakis Emmanu |
| Primary sclerosing cholangitis in childhood is associated with abnormalities in cystic fibrosis-mediated chloride channel function. The Journal of pediatrics 2007 Sep 151 (3): 255-9. Pall Harpreet, Zielenski Julian, Jonas Maureen M, DaSilva Deborah A, Potvin Kimberly M, Yuan Xiao-Wei, Huang Qiuju, Freedman Steven |
| The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. Human genetics 2005 Dec 118 (3-4): 372-81. Bishop Michele D, Freedman Steven D, Zielenski Julian, Ahmed Najma, Dupuis Annie, Martin Sheelagh, Ellis Lynda, Shea Julie, Hopper Isobel, Corey Mary, Kortan Paul, Haber Gregory, Ross Christine, Tzountzouris John, Steele Leslie, Ray Peter N, Tsui Lap-Chee, Durie Peter |
| Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. The New England journal of medicine 2003 Oct 349 (15): 1433-41. Wilschanski Michael, Yahav Yaacov, Yaacov Yasmin, Blau Hannah, Bentur Lea, Rivlin Joseph, Aviram Micha, Bdolah-Abram Tali, Bebok Zsuzsa, Shushi Liat, Kerem Batsheva, Kerem Eit |
| Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis. Human genetics 2003 Aug 113 (3): 286-92. Sheth Sunil, Shea Julie C, Bishop Michele D, Chopra Sanjiv, Regan Meredith M, Malmberg Emily, Walker Carolyn, Ricci Ryan, Tsui Lap-Chee, Durie Peter R, Zielenski Julian, Freedman Steven |
| Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland. Human mutation 2003 Jul 22 (1): 105. Scotet Virginie, Barton David E, Watson James B G, Audrézet Marie-Pierre, McDevitt Trudi, McQuaid Shirley, Shortt Cathy, De Braekeleer Marc, Férec Claude, Le Maréchal Cédr |
| Molecular diagnosis of cystic fibrosis in Indian patients--a preliminary report. The Journal of the Association of Physicians of India 2003 Apr 51 (): 345-8. Ashavaid T F, Dherai A J, Kondkar A A, Raghavan R, Udani S V, Udwadia Z F, Desai |
| Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene. Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2002 Sep 50 (5): 247S-255S. Cohn Jonathan A, Noone Peadar G, Jowell Paul |
| Relation between the anatomical genital phenotype and cystic fibrosis transmembrane conductance regulator gene mutations in the absence of the vas deferens. Fertility and sterility 2002 May 77 (5): 889-96. Robert François, Bey-Omar Faïza, Rollet Jacques, Lapray Jean François, Morel Yv |
| Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Human reproduction (Oxford, England) 2002 Jan 17 (1): 13-6. Dohle G R, Halley D J J, Van Hemel J O, van den Ouwel A M W, Pieters M H E C, Weber R F A, Govaerts L C |
| Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype. Journal of andrology 0 29 (1): 35-40. Radpour Ramin, Gourabi Hamid, Gilani Mohamad Ali Sadighi, Dizaj Ahmad Vosou |
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- Page last updated:Mar 22, 2023
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