These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

138 related articles for article (PubMed ID: 30627177)

  • 21. A Survey of the Common Mutations and IVS8-Tn Polymorphism of Cystic Fibrosis Transmembrane Conductance Regulator Gene in Infertile Men with Nonobstructive Azoospermia and CBAVD in Iranian Population.
    Asadi F; Mirfakhraie R; Mirzajani F; Khedri A
    Iran Biomed J; 2019 Mar; 23(2):92-8. PubMed ID: 29986553
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
    Claustres M; Guittard C; Bozon D; Chevalier F; Verlingue C; Ferec C; Girodon E; Cazeneuve C; Bienvenu T; Lalau G; Dumur V; Feldmann D; Bieth E; Blayau M; Clavel C; Creveaux I; Malinge MC; Monnier N; Malzac P; Mittre H; Chomel JC; Bonnefont JP; Iron A; Chery M; Georges MD
    Hum Mutat; 2000; 16(2):143-56. PubMed ID: 10923036
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.
    De Braekeleer M; Férec C
    Mol Hum Reprod; 1996 Sep; 2(9):669-77. PubMed ID: 9239681
    [TBL] [Abstract][Full Text] [Related]  

  • 24. CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease.
    Bonadia LC; de Lima Marson FA; Ribeiro JD; Paschoal IA; Pereira MC; Ribeiro AF; Bertuzzo CS
    Gene; 2014 May; 540(2):183-90. PubMed ID: 24583165
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Lumacaftor/ivacaftor combination for cystic fibrosis patients homozygous for Phe508del-CFTR.
    Zhang W; Zhang X; Zhang YH; Strokes DC; Naren AP
    Drugs Today (Barc); 2016 Apr; 52(4):229-37. PubMed ID: 27252987
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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.
    Boudaya M; Fredj SH; Haj RB; Khrouf M; Bouker A; Halouani L; Messaoud T
    Ann Hum Biol; 2012 Jan; 39(1):76-9. PubMed ID: 22148899
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.
    Petrova NV; Kashirskaya NY; Saydaeva DK; Polyakov AV; Adyan TA; Simonova OI; Gorinova YV; Kondratyeva EI; Sherman VD; Novoselova OG; Vasilyeva TA; Marakhonov AV; Macek M; Ginter EK; Zinchenko RA
    BMC Med Genet; 2019 Mar; 20(1):44. PubMed ID: 30898088
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mutation and new polymorphisms insight in introns 11 to 14a of CFTR gene of northern Iranian cystic fibrosis patients.
    Esmaeili Dooki MR; Tabaripour R; Rahimi R; Akhavan-Niaki H
    Gene; 2015 Jun; 564(2):193-6. PubMed ID: 25824381
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.
    Kerem E; Rave-Harel N; Augarten A; Madgar I; Nissim-Rafinia M; Yahav Y; Goshen R; Bentur L; Rivlin J; Aviram M; Genem A; Chiba-Falek O; Kraemer MR; Simon A; Branski D; Kerem B
    Am J Respir Crit Care Med; 1997 Jun; 155(6):1914-20. PubMed ID: 9196095
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling.
    Daudin M; Bieth E; Bujan L; Massat G; Pontonnier F; Mieusset R
    Fertil Steril; 2000 Dec; 74(6):1164-74. PubMed ID: 11119745
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Clinical phenotype of cystic fibrosis patients with the G551D mutation.
    Comer DM; Ennis M; McDowell C; Beattie D; Rendall J; Hall V; Elborn JS
    QJM; 2009 Nov; 102(11):793-8. PubMed ID: 19734299
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Frequency of common CFTR gene mutations in Venezuelan patients with cystic fibrosis.
    Sánchez K; Arcia O; Matute X; Mindiola L; Chaustre I; Takiff H
    Invest Clin; 2014 Mar; 55(1):44-54. PubMed ID: 24758101
    [TBL] [Abstract][Full Text] [Related]  

  • 33. R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series.
    Villalona S; Glover-López G; Ortega-García JA; Moya-Quiles R; Mondejar-López P; Martínez-Romero MC; Rigabert-Montiel M; Pastor-Vivero MD; Sánchez-Solís M
    J Med Case Rep; 2017 Feb; 11(1):42. PubMed ID: 28196530
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens.
    Radpour R; Gourabi H; Gilani MA; Dizaj AV; Rezaee M; Mollamohamadi S
    Mol Hum Reprod; 2006 Nov; 12(11):717-21. PubMed ID: 16973827
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.
    Banjar H; Al-Mogarri I; Nizami I; Al-Haider S; AlMaghamsi T; Alkaf S; Al-Enazi A; Moghrabi N
    Int J Pediatr Adolesc Med; 2021 Mar; 8(1):25-28. PubMed ID: 33718573
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens.
    Radpour R; Gourabi H; Gilani MA; Dizaj AV
    J Androl; 2007; 28(4):541-7. PubMed ID: 17314234
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
    Terlizzi V; Castaldo G; Salvatore D; Lucarelli M; Raia V; Angioni A; Carnovale V; Cirilli N; Casciaro R; Colombo C; Di Lullo AM; Elce A; Iacotucci P; Comegna M; Scorza M; Lucidi V; Perfetti A; Cimino R; Quattrucci S; Seia M; Sofia VM; Zarrilli F; Amato F
    J Med Genet; 2017 Apr; 54(4):224-235. PubMed ID: 27738188
    [TBL] [Abstract][Full Text] [Related]  

  • 38. VX-659-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and One or Two Phe508del Alleles.
    Davies JC; Moskowitz SM; Brown C; Horsley A; Mall MA; McKone EF; Plant BJ; Prais D; Ramsey BW; Taylor-Cousar JL; Tullis E; Uluer A; McKee CM; Robertson S; Shilling RA; Simard C; Van Goor F; Waltz D; Xuan F; Young T; Rowe SM;
    N Engl J Med; 2018 Oct; 379(17):1599-1611. PubMed ID: 30334693
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients.
    Alibakhshi R; Zamani M
    Iran J Allergy Asthma Immunol; 2006 Mar; 5(1):3-8. PubMed ID: 17242497
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Changing incidence of cystic fibrosis in Wisconsin, USA.
    Parker-McGill K; Nugent M; Bersie R; Hoffman G; Rock M; Baker M; Farrell PM; Simpson P; Levy H
    Pediatr Pulmonol; 2015 Nov; 50(11):1065-1072. PubMed ID: 26258862
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.