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Journal Abstract Search

163 related items for PubMed ID: 18790721

  • 1. Array comparative genomic hybridization (aCGH) reveals the largest novel deletion in PCCA found in a Saudi family with propionic acidemia.
    Kaya N, Al-Owain M, Albakheet A, Colak D, Al-Odaib A, Imtiaz F, Coskun S, Al-Sayed M, Al-Hassnan Z, Al-Zaidan H, Meyer B, Ozand P.
    Eur J Med Genet; 2008; 51(6):558-65. PubMed ID: 18790721
    [Abstract] [Full Text] [Related]

  • 2. Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.
    Rodriguez-Pombo P, Pérez-Cerdá C, Desviat LR, Pérez B, Ugarte M, Rodríguez-Pombo P.
    Mol Genet Metab; 2002 Mar; 75(3):276-9. PubMed ID: 11914040
    [Abstract] [Full Text] [Related]

  • 3. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
    Pérez B, Desviat LR, Rodríguez-Pombo P, Clavero S, Navarrete R, Perez-Cerdá C, Ugarte M.
    Mol Genet Metab; 2003 Jan; 78(1):59-67. PubMed ID: 12559849
    [Abstract] [Full Text] [Related]

  • 4. Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.
    Chapman KA, Ostrovsky J, Rao M, Dingley SD, Polyak E, Yudkoff M, Xiao R, Bennett MJ, Falk MJ.
    J Inherit Metab Dis; 2018 Mar; 41(2):157-168. PubMed ID: 29159707
    [Abstract] [Full Text] [Related]

  • 5. Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.
    Richard E, Desviat LR, Pérez B, Pérez-Cerdá C, Ugarte M.
    Hum Genet; 1997 Nov; 101(1):93-6. PubMed ID: 9385377
    [Abstract] [Full Text] [Related]

  • 6. [Gene mutation analysis in patients with propionic acidemia].
    Hu YH, Han LS, Ye J, Qiu WJ, Zhang YF, Yang YL, Liu L, Ma HW, Gao XL, Gu XF.
    Zhonghua Er Ke Za Zhi; 2008 Jun; 46(6):416-20. PubMed ID: 19099776
    [Abstract] [Full Text] [Related]

  • 7. Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
    Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P, Desviat LR, Pérez B, Richard E, Muro S, Campeau E, Ohura T, Gravel RA.
    Hum Mutat; 1999 Jun; 14(4):275-82. PubMed ID: 10502773
    [Abstract] [Full Text] [Related]

  • 8. Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
    Rodríguez-Pombo P, Hoenicka J, Muro S, Pérez B, Pérez-Cerdá C, Richard E, Desviat LR, Ugarte M.
    Am J Hum Genet; 1998 Aug; 63(2):360-9. PubMed ID: 9683601
    [Abstract] [Full Text] [Related]

  • 9. An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
    Tahara T, Kraus JP, Rosenberg LE.
    Proc Natl Acad Sci U S A; 1990 Feb; 87(4):1372-6. PubMed ID: 2154743
    [Abstract] [Full Text] [Related]

  • 10. Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.
    Campeau E, Dupuis L, Leclerc D, Gravel RA.
    Hum Mol Genet; 1999 Jan; 8(1):107-13. PubMed ID: 9887338
    [Abstract] [Full Text] [Related]

  • 11. Metabolic perturbations mediated by propionyl-CoA accumulation in organs of mouse model of propionic acidemia.
    He W, Wang Y, Xie EJ, Barry MA, Zhang GF.
    Mol Genet Metab; 2021 Nov; 134(3):257-266. PubMed ID: 34635437
    [Abstract] [Full Text] [Related]

  • 12. Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli.
    Chloupková M, Ravn K, Schwartz M, Kraus JP.
    Mol Genet Metab; 2000 Dec; 71(4):623-32. PubMed ID: 11136555
    [Abstract] [Full Text] [Related]

  • 13. [Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?].
    Brosch S, Rauffeisen A, Baur M, Michels L, Trefz FK, Pfister M.
    HNO; 2008 Jan; 56(1):37-42. PubMed ID: 17415538
    [Abstract] [Full Text] [Related]

  • 14. Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.
    Al-Hamed MH, Imtiaz F, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Alamoudi MS, Faqeih E, Alfadhel M, Al-Asmari A, Saleh MM, Almutairi F, Moghrabi N, AlSayed M.
    Mol Genet Metab Rep; 2019 Mar; 18():22-29. PubMed ID: 30705822
    [Abstract] [Full Text] [Related]

  • 15. High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.
    Desviat LR, Sanchez-Alcudia R, Pérez B, Pérez-Cerdá C, Navarrete R, Vijzelaar R, Ugarte M.
    Mol Genet Metab; 2009 Apr; 96(4):171-6. PubMed ID: 19157943
    [Abstract] [Full Text] [Related]

  • 16. Two distinct mutations at the same site in the PCCB gene in propionic acidemia.
    Lamhonwah AM, Troxel CE, Schuster S, Gravel RA.
    Genomics; 1990 Oct; 8(2):249-54. PubMed ID: 2249848
    [Abstract] [Full Text] [Related]

  • 17. [Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
    Chen Z, Wen P, Wang G, Hu Y, Liu X, Chen L, Chen S, Wan L, Cui D, Shang Y, Li C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Feb; 32(1):26-30. PubMed ID: 25636094
    [Abstract] [Full Text] [Related]

  • 18. Propionic acidemia in the Arab World.
    Zayed H.
    Gene; 2015 Jun 15; 564(2):119-24. PubMed ID: 25865301
    [Abstract] [Full Text] [Related]

  • 19. Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit.
    Lamhonwah AM, Leclerc D, Loyer M, Clarizio R, Gravel RA.
    Genomics; 1994 Feb 15; 19(3):500-5. PubMed ID: 8188292
    [Abstract] [Full Text] [Related]

  • 20. Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.
    Yang Q, Xu H, Luo J, Li M, Yi S, Zhang Q, Geng G, Feng S, Fan X.
    BMC Med Genet; 2020 Apr 06; 21(1):72. PubMed ID: 32252659
    [Abstract] [Full Text] [Related]

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