BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

220 related articles for article (PubMed ID: 22156145)

  • 1. The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis.
    Peleg L; Karpati M; Bronstein S; Berkenstadt M; Frydman M; Yonath H; Pras E
    J Med Screen; 2011; 18(4):169-72. PubMed ID: 22156145
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cystic fibrosis mutations with widely variable phenotype: the D1152H example.
    Mussaffi H; Prais D; Mei-Zahav M; Blau H
    Pediatr Pulmonol; 2006 Mar; 41(3):250-4. PubMed ID: 16429425
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Non-classic cystic fibrosis associated with D1152H CFTR mutation.
    Burgel PR; Fajac I; Hubert D; Grenet D; Stremler N; Roussey M; Siret D; Languepin J; Mely L; Fanton A; Labbé A; Domblides P; Vic P; Dagorne M; Reynaud-Gaubert M; Counil F; Varaigne F; Bienvenu T; Bellis G; Dusser D
    Clin Genet; 2010 Apr; 77(4):355-64. PubMed ID: 19843100
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene.
    Brugnon F; Bilan F; Heraud MC; Grizard G; Janny L; Creveaux I
    Fertil Steril; 2008 Nov; 90(5):2004.e23-6. PubMed ID: 18703181
    [TBL] [Abstract][Full Text] [Related]  

  • 5. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
    Thauvin-Robinet C; Munck A; Huet F; de Becdelièvre A; Jimenez C; Lalau G; Gautier E; Rollet J; Flori J; Nové-Josserand R; Soufir JC; Haloun A; Hubert D; Houssin E; Bellis G; Rault G; David A; Janny L; Chiron R; Rives N; Hairion D; Collignon P; Valeri A; Karsenty G; Rossi A; Audrézet MP; Férec C; Leclerc J; Georges Md; Claustres M; Bienvenu T; Gérard B; Boisseau P; Cabet-Bey F; Cheillan D; Feldmann D; Clavel C; Bieth E; Iron A; Simon-Bouy B; Izard V; Steffann J; Viville S; Costa C; Drouineaud V; Fauque P; Binquet C; Bonithon-Kopp C; Morris MA; Faivre L; Goossens M; Roussey M; Girodon E;
    J Med Genet; 2013 Apr; 50(4):220-7. PubMed ID: 23378603
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.
    Kornreich R; Ekstein J; Edelmann L; Desnick RJ
    Genet Med; 2004; 6(5):415-20. PubMed ID: 15371906
    [TBL] [Abstract][Full Text] [Related]  

  • 7. CFTR DeltaF508 mutation detection from dried blood samples in the first trimester of pregnancy: a possible routine prenatal screening strategy for cystic fibrosis?
    Konialis CP; Hagnefelt B; Kazamia C; Karapanou S; Pangalos C
    Fetal Diagn Ther; 2007; 22(1):41-4. PubMed ID: 17003555
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prevalence of cystic fibrosis mutations in Israeli Jews.
    Orgad S; Neumann S; Loewenthal R; Netanelov-Shapira I; Gazit E
    Genet Test; 2001; 5(1):47-52. PubMed ID: 11336401
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.
    Alibakhshi R; Kianishirazi R; Cassiman JJ; Zamani M; Cuppens H
    J Cyst Fibros; 2008 Mar; 7(2):102-9. PubMed ID: 17662673
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene.
    Diana A; Tesse R; Polizzi AM; Santostasi T; Manca A; Leonetti G; Seia M; Porcaro L; Cavallo L
    Gene; 2012 Apr; 497(1):90-2. PubMed ID: 22310382
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Carrier screening for cystic fibrosis.
    Dungan JS
    Obstet Gynecol Clin North Am; 2010 Mar; 37(1):47-59, Table of Contents. PubMed ID: 20494257
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. An update on cystic fibrosis screening.
    Goetzinger KR; Cahill AG
    Clin Lab Med; 2010 Sep; 30(3):533-43. PubMed ID: 20638569
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A 10-year large-scale cystic fibrosis carrier screening in the Italian population.
    Picci L; Cameran M; Marangon O; Marzenta D; Ferrari S; Frigo AC; Scarpa M
    J Cyst Fibros; 2010 Jan; 9(1):29-35. PubMed ID: 19897426
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cystic fibrosis in Jews: frequency and mutation distribution.
    Kerem B; Chiba-Falek O; Kerem E
    Genet Test; 1997; 1(1):35-9. PubMed ID: 10464623
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes].
    Schwartz M
    Ugeskr Laeger; 2003 Feb; 165(9):912-6. PubMed ID: 12661515
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Frequency and clinical significance of the S1235R mutation in the cystic fibrosis transmembrane conductance regulator gene: results from a collaborative study.
    Monaghan KG; Feldman GL; Barbarotto GM; Manji S; Desai TK; Snow K
    Am J Med Genet; 2000 Dec; 95(4):361-5. PubMed ID: 11186891
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Population-based carrier screening for cystic fibrosis in Victoria: the first three years experience.
    Massie J; Petrou V; Forbes R; Curnow L; Ioannou L; Dusart D; Bankier A; Delatycki M
    Aust N Z J Obstet Gynaecol; 2009 Oct; 49(5):484-9. PubMed ID: 19780730
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization.
    Wong LJ; Alper OM; Hsu E; Woo MS; Margetis MF
    Fertil Steril; 2004 Oct; 82(4):947-9. PubMed ID: 15482777
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.