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 *

152 related articles for article (PubMed ID: 20512161)

  • 1. Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.
    de Becdelièvre A; Costa C; LeFloch A; Legendre M; Jouannic JM; Vigneron J; Bresson JL; Gobin S; Martin J; Goossens M; Girodon E
    Eur J Hum Genet; 2010 Oct; 18(10):1166-9. PubMed ID: 20512161
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.
    de Becdelièvre A; Costa C; Jouannic JM; LeFloch A; Giurgea I; Martin J; Médina R; Boissier B; Gameiro C; Muller F; Goossens M; Alberti C; Girodon E
    Hum Genet; 2011 Apr; 129(4):387-96. PubMed ID: 21184098
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases.
    Muller F; Simon-Bouy B; Girodon E; Monnier N; Malinge MC; Serre JL;
    Am J Med Genet; 2002 Jun; 110(2):109-15. PubMed ID: 12116247
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive
    Mekki C; Aissat A; Mirlesse V; Mayer Lacrosniere S; Eche E; Le Floch A; Whalen S; Prud'Homme C; Remus C; Funalot B; Castaigne V; Fanen P; de Becdelièvre A
    Genes (Basel); 2021 Apr; 12(5):. PubMed ID: 33946859
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Incidence and Carrier Frequency of CFTR Gene Mutations in Pregnancies With Echogenic Bowel in Nova Scotia and Prince Edward Island.
    Miller ME; Allen VM; Brock JK
    J Obstet Gynaecol Can; 2018 Jul; 40(7):896-902. PubMed ID: 29503250
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mid-trimester hyperechogenic bowel in a fetus of Japanese origin carrying a new mutation of CFTR gene (L548Q).
    Yamamoto M; Molina-Gomes D; Girodon-Boulandet E; Moulis M; Leroy B; Simon-Bouy B; Selva J; Ville Y
    Prenat Diagn; 2006 Jan; 26(1):6-8. PubMed ID: 16378323
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study.
    Tomaiuolo R; Sangiuolo F; Bombieri C; Bonizzato A; Cardillo G; Raia V; D'Apice MR; Bettin MD; Pignatti PF; Castaldo G; Novelli G
    J Cyst Fibros; 2008 Sep; 7(5):347-51. PubMed ID: 18280224
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Hyperechogenic fetal bowel as a marker of fetal cystic fibrosis].
    Sukupová M; Dhaifalah I; Adamík Z; Havalová J
    Ceska Gynekol; 2015 Jan; 80(1):20-4. PubMed ID: 25723074
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mid-trimester hyperechogenic bowel in a fetus of Turkish origin carrying a rarely seen mutation of cystic fibrosis.
    Kazandi M; Turan V; Selvi Demirtas G; Akercan F; Aykut A; Ozkinay F
    Arch Iran Med; 2012 Jul; 15(7):449-51. PubMed ID: 22724884
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.
    Hantash FM; Redman JB; Starn K; Anderson B; Buller A; McGinniss MJ; Quan F; Peng M; Sun W; Strom CM
    Hum Genet; 2006 Mar; 119(1-2):126-36. PubMed ID: 16362824
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis.
    Duguépéroux I; Scotet V; Audrézet MP; Saliou AH; Collet M; Blayau M; Schmitt S; Kitzis A; Fresquet F; Müller F; Férec C
    Prenat Diagn; 2012 Jan; 32(1):21-8. PubMed ID: 22052729
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Prenatal molecular diagnosis of cystic fibrosis. Report of 3 cases].
    Morales-Machín A; Borjas-Fajardo L; Pineda-Del Villar L; Prieto-Carrasquero M; González S; Gutiérrez M; Delgado-Luengo W; Alvarez F; Barrera-Saldaña H
    Invest Clin; 1997 Sep; 38(3):145-53. PubMed ID: 9376420
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hyperechogenic fetal bowel: counseling difficulties.
    Marcus-Soekarman D; Offermans J; Van den Ouweland AM; Mulder AL; Muntjewerff N; Vossen M; Kleijer W; Schrander-Stumpel C; Dooijes D
    Eur J Med Genet; 2005; 48(4):421-5. PubMed ID: 16378926
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population.
    Casals T; Gimenez J; Ramos MD; Nunes V; Estivill X
    Prenat Diagn; 1996 Mar; 16(3):215-22. PubMed ID: 8710774
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.
    Comeau AM; Parad RB; Dorkin HL; Dovey M; Gerstle R; Haver K; Lapey A; O'Sullivan BP; Waltz DA; Zwerdling RG; Eaton RB
    Pediatrics; 2004 Jun; 113(6):1573-81. PubMed ID: 15173476
    [TBL] [Abstract][Full Text] [Related]  

  • 16. New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma.
    Bustamante-Aragones A; Gallego-Merlo J; Trujillo-Tiebas MJ; de Alba MR; Gonzalez-Gonzalez C; Glover G; Diego-Alvarez D; Ayuso C; Ramos C
    J Cyst Fibros; 2008 Nov; 7(6):505-10. PubMed ID: 18573697
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Frequency of large CFTR gene rearrangements in Italian CF patients.
    Bombieri C; Bonizzato A; Castellani C; Assael BM; Pignatti PF
    Eur J Hum Genet; 2005 May; 13(5):687-9. PubMed ID: 15741992
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular basis of cystic fibrosis in Lithuania: incomplete CFTR mutation detection by PCR-based screening protocols.
    Giannattasio S; Bobba A; Jurgelevicius V; Vacca RA; Lattanzio P; Merafina RS; Utkus A; Kucinskas V; Marra E
    Genet Test; 2006; 10(3):169-73. PubMed ID: 17020467
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity.
    Debrand E; Lykoudi A; Bradshaw E; Allen SK
    PLoS One; 2015; 10(11):e0142729. PubMed ID: 26561302
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A simple, fast and inexpensive method for mutation scanning of CFTR gene.
    Figueredo Lago JE; Armas Cayarga A; González González YJ; Collazo Mesa T
    BMC Med Genet; 2017 May; 18(1):58. PubMed ID: 28545452
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.