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Annals of Human Biology Volume 39, 2012 - Issue 1
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Research papers

Cystic fibrosis transmembrane conductance regulator mutations and polymorphisms associated with congenital bilateral absence of vas deferens in a restricted group of patients from North Africa

M. BoudayaLaboratoire de Biochimie et de Biologie Moléculaire-Hôpital d'enfants de Tunis, Tunis, Tunisia
,
S. Hadj FredjLaboratoire de Biochimie et de Biologie Moléculaire-Hôpital d'enfants de Tunis, Tunis, Tunisia
,
R. Bel HajLaboratoire de Biochimie et de Biologie Moléculaire-Hôpital d'enfants de Tunis, Tunis, Tunisia
,
M. KhroufCentre Ibn Zohr Tunis, Tunis, Tunisia
,
A. BoukerClinique Ettaoufik Tunis, Tunis, Tunisia
,
L. HalouaniClinique les Jasmins Tunis, Tunis, Tunisia
&
T. MessaoudLaboratoire de Biochimie et de Biologie Moléculaire-Hôpital d'enfants de Tunis, Tunis, TunisiaCorrespondence[email protected]
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Pages 76-79 | Received 21 Jun 2011, Accepted 17 Nov 2011, Published online: 08 Dec 2011

Citations (16)

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M. S. Kutuk, B. Balta, S. Doganay, M. Guzel & M. T. Ozgun. (2015) Prenatal diagnosis of intestinal volvulus in a foetus with homozygous M470V cystic fibrosis gene polymorphism. Journal of Obstetrics and Gynaecology 35:5, pages 522-523.
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Articles from other publishers (15)

Sónia Zacarias, Marta S. P. Batista, Sofia S. Ramalho, Bruno L. Victor & Carlos M. Farinha. (2023) Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction. International Journal of Molecular Sciences 24:4, pages 3211.
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Marta Molina Romero, Alberto Yoldi Chaure, Miguel Gañán Parra, Purificación Navas Bastida, José Luis del Pico Sánchez, Ángel Vaquero Argüelles, Paloma de la Fuente Vaquero, Juan Pablo Ramírez López & José Antonio Castilla Alcalá. (2022) Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?. Journal of Assisted Reproduction and Genetics 39:2, pages 341-355.
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Rachel Wong, Kaien Gu, Yool Ko & Premal Patel. (2020) Congenital absence of the vas deferens: Cystic fibrosis transmembrane regulatory gene mutations. Best Practice & Research Clinical Endocrinology & Metabolism 34:6, pages 101476.
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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.
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Bente L. Aalbers, Yasmin Yaakov, Nico Derichs, Nicholas J. Simmonds, Elke De Wachter, Paola Melotti, Kris De Boeck, Teresinha Leal, Burkhart Tümmler, Michael Wilschanski & Inez Bronsveld. (2020) Nasal potential difference in suspected cystic fibrosis patients with 5T polymorphism. Journal of Cystic Fibrosis 19:4, pages 627-631.
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I. Wahabi, S. Hadj Fredj, C. Sahli, R. Dabboubi, H. Siala, I. Bel Hadj, K. Bousetta & T. Messaoud. (2019) Analysis of IVS8 CFTR gene polymorphism in asthmatic children in a Tunisian population. Revue Française d'Allergologie 59:5, pages 363-368.
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Ivan Radosavljevic, Bojan Stojanovic, Marko Spasic, Slobodan Jankovic & Natasa Djordjevic. (2018) CFTR IVS8 Poly-T Variation Affects Severity of Acute Pancreatitis in Women. Journal of Gastrointestinal Surgery 23:5, pages 975-981.
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Imen Wahabi, Sondess Hadj Fredj, Malek Nefzi, Rym Dabboubi, Hajer Siala, Fatma Khalsi, Khedija Bousetta & Taieb Messaoud. (2019) Association of M470V polymorphism of CFTR gene with variability of clinical expression of asthma: Case-report study. Allergologia et Immunopathologia 47:2, pages 159-165.
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D. A. S. de Souza, F. R. Faucz, L. Pereira-Ferrari, V. S. Sotomaior & S. Raskin. (2018) Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling. Andrology 6:1, pages 127-135.
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Chen Yan, Qin Lang, Liao Huijuan, Xie Jiang, Yang Ming, Sun Huaqin & Xu Wenming. (2016) CFTR Deletion in Mouse Testis Induces VDAC1 Mediated Inflammatory Pathway Critical for Spermatogenesis. PLOS ONE 11:8, pages e0158994.
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Andrea D. Praticò, Elena R. Praticò, Novella Rotolo, Stefania Salafia, Chiara Franzonello & Salvatore Leonardi. (2015) Isolated liver disease in a patient with a CFTR genotype F508del/12TG-5T and 470MV: A new face of an old disease. Annals of Hepatology 14:6, pages 933-936.
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M. Nefzi, S. Hadj Fredj, N. Tebib, S. Barsaoui, K. Boussetta, H. Siala & T. Messaoud. (2015) Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population. Pathologie Biologie 63:4-5, pages 169-174.
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Matthew N. Hurley, Tricia M. McKeever, Andrew P. Prayle, Andrew W. Fogarty & Alan R. Smyth. (2014) Rate of improvement of CF life expectancy exceeds that of general population—Observational death registration study. Journal of Cystic Fibrosis 13:4, pages 410-415.
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Xuting Xu, Jufen Zheng, Qi Liao, Huiqing Zhu, Hongyan Xie, Huijuan Shi & Shiwei Duan. (2014) Meta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens. Journal of Clinical Bioinformatics 4:1, pages 11.
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Qiang Du, Zheng Li, Yongfeng Pan, Xiaoliang Liu, Bochen Pan & Bin Wu. (2014) The CFTR M470V, Intron 8 Poly-T, and 8 TG-Repeats Detection in Chinese Males with Congenital Bilateral Absence of the Vas Deferens. BioMed Research International 2014, pages 1-7.
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