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 *

166 related articles for article (PubMed ID: 10447268)

  • 41. Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases.
    Sharon D; Yamamoto H; McGee TL; Rabe V; Szerencsei RT; Winkfein RJ; Prinsen CF; Barnes CS; Andreasson S; Fishman GA; Schnetkamp PP; Berson EL; Dryja TP
    Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1971-9. PubMed ID: 12037007
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.
    Desviat LR; Pérez-Cerdá C; Pérez B; Esparza-Gordillo J; Rodríguez-Pombo P; Peñalva MA; Rodríguez De Córdoba S; Ugarte M
    Mol Genet Metab; 2003 Nov; 80(3):315-20. PubMed ID: 14680978
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.
    Lamhonwah AM; Barankiewicz TJ; Willard HF; Mahuran DJ; Quan F; Gravel RA
    Proc Natl Acad Sci U S A; 1986 Jul; 83(13):4864-8. PubMed ID: 3460076
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.
    Dobson CM; Gradinger A; Longo N; Wu X; Leclerc D; Lerner-Ellis J; Lemieux M; Belair C; Watkins D; Rosenblatt DS; Gravel RA
    Mol Genet Metab; 2006 Aug; 88(4):327-33. PubMed ID: 16697227
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
    Loyer M; Leclerc D; Gravel RA
    Hum Mol Genet; 1995 Jun; 4(6):1035-9. PubMed ID: 7655456
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Seven novel mutations in mut methylmalonic aciduria.
    Adjalla CE; Hosack AR; Gilfix BM; Lamothe E; Sun S; Chan A; Evans S; Matiaszuk NV; Rosenblatt DS
    Hum Mutat; 1998; 11(4):270-4. PubMed ID: 9554742
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Clinical characteristics and mutation analysis of propionic acidemia in Thailand.
    Vatanavicharn N; Liammongkolkul S; Sakamoto O; Kamolsilp M; Sathienkijkanchai A; Wasant P
    World J Pediatr; 2014 Feb; 10(1):64-8. PubMed ID: 24464666
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Mutations in MYOC gene of Indian primary open angle glaucoma patients.
    Mukhopadhyay A; Acharya M; Mukherjee S; Ray J; Choudhury S; Khan M; Ray K
    Mol Vis; 2002 Nov; 8():442-8. PubMed ID: 12447164
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene.
    Mahajan A; Chavali S; Kabra M; Chowdhury MR; Bharadwaj D
    Haematologica; 2004 Dec; 89(12):1498-503. PubMed ID: 15590401
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.
    Gómez-Zaera M; Strom TM; Rodríguez B; Estivill X; Meitinger T; Nunes V
    Mol Genet Metab; 2001 Jan; 72(1):72-81. PubMed ID: 11161832
    [TBL] [Abstract][Full Text] [Related]  

  • 52. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 53. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.
    García-Consuegra I; Rubio JC; Nogales-Gadea G; Bautista J; Jiménez S; Cabello A; Lucía A; Andreu AL; Arenas J; Martin MA
    J Med Genet; 2009 Mar; 46(3):198-202. PubMed ID: 19251976
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Propionic acidemia identified in twin siblings conceived by in vitro fertilization (IVF) with parents who were unknown carriers of a PCCA mutation.
    Tian Y; Wang G; Shi W; Bai X
    BMC Pregnancy Childbirth; 2020 Nov; 20(1):689. PubMed ID: 33183246
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
    Monnot S; Serre V; Chadefaux-Vekemans B; Aupetit J; Romano S; De Lonlay P; Rival JM; Munnich A; Steffann J; Bonnefont JP
    Hum Mutat; 2009 May; 30(5):734-40. PubMed ID: 19306334
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
    Gao HZ; Kobayashi K; Tabata A; Tsuge H; Iijima M; Yasuda T; Kalkanoglu HS; Dursun A; Tokatli A; Coskun T; Trefz FK; Skladal D; Mandel H; Seidel J; Kodama S; Shirane S; Ichida T; Makino S; Yoshino M; Kang JH; Mizuguchi M; Barshop BA; Fuchinoue S; Seneca S; Zeesman S; Knerr I; Rodés M; Wasant P; Yoshida I; De Meirleir L; Abdul Jalil M; Begum L; Horiuchi M; Katunuma N; Nakagawa S; Saheki T
    Hum Mutat; 2003 Jul; 22(1):24-34. PubMed ID: 12815590
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
    Rivera-Barahona A; Navarrete R; García-Rodríguez R; Richard E; Ugarte M; Pérez-Cerda C; Pérez B; Gámez A; Desviat LR
    Mol Genet Metab; 2018 Nov; 125(3):266-275. PubMed ID: 30274917
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
    Yorifuji T; Kawai M; Muroi J; Mamada M; Kurokawa K; Shigematsu Y; Hirano S; Sakura N; Yoshida I; Kuhara T; Endo F; Mitsubuchi H; Nakahata T
    Hum Genet; 2002 Aug; 111(2):161-5. PubMed ID: 12189489
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes.
    Chapman KA; Collado MS; Figler RA; Hoang SA; Armstrong AJ; Cui W; Purdy M; Simmers MB; Yazigi NA; Summar ML; Wamhoff BR; Dash A
    Mol Genet Metab; 2016 Mar; 117(3):355-362. PubMed ID: 26740382
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.