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Journal Abstract Search

220 related items for PubMed ID: 22212319

  • 1. Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction.
    Kuo SJ, Ma GC, Chang SP, Wu HH, Chen CP, Chang TM, Lin WH, Wu SH, Lee MH, Hwu WL, Chen M.
    Taiwan J Obstet Gynecol; 2011 Dec; 50(4):468-73. PubMed ID: 22212319
    [Abstract] [Full Text] [Related]

  • 2. Aromatic L-amino acid decarboxylase deficiency in Taiwan.
    Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ.
    Eur J Paediatr Neurol; 2009 Mar; 13(2):135-40. PubMed ID: 18567514
    [Abstract] [Full Text] [Related]

  • 3. Validating a rapid, real-time, PCR-based direct mutation detection assay for preimplantation genetic diagnosis.
    Chen HF, Chang SP, Wu SH, Lin WH, Lee YC, Ni YH, Chen CA, Ma GC, Ginsberg NA, You EM, Tsai FP, Chen M.
    Gene; 2014 Sep 15; 548(2):299-305. PubMed ID: 25034658
    [Abstract] [Full Text] [Related]

  • 4. [Successful preimplantation genetic diagnosis for beta-thalassemia using multiplex nested polymerase chain reaction].
    Deng J, Zhuang GL, Peng WL, Zhou CQ, Li J, Liang XY, Deng MF, Zeng YH, Sun HY.
    Zhonghua Yi Xue Za Zhi; 2005 Mar 30; 85(12):811-5. PubMed ID: 15949396
    [Abstract] [Full Text] [Related]

  • 5. S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.
    Montioli R, Oppici E, Cellini B, Roncador A, Dindo M, Voltattorni CB.
    Hum Mol Genet; 2013 Apr 15; 22(8):1615-24. PubMed ID: 23321058
    [Abstract] [Full Text] [Related]

  • 6. Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene.
    Moutou C, Machev N, Gardes N, Viville S.
    Prenat Diagn; 2006 Nov 15; 26(11):1037-41. PubMed ID: 16941715
    [Abstract] [Full Text] [Related]

  • 7. Preimplantation genetic diagnosis: state of the art.
    Basille C, Frydman R, El Aly A, Hesters L, Fanchin R, Tachdjian G, Steffann J, LeLorc'h M, Achour-Frydman N.
    Eur J Obstet Gynecol Reprod Biol; 2009 Jul 15; 145(1):9-13. PubMed ID: 19411132
    [Abstract] [Full Text] [Related]

  • 8. Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.
    Muro S, Perez-Cerdá C, Roddríguez-Pombo P, Pérez B, Briones P, Ribes A, Ugarte M.
    J Med Genet; 1999 May 15; 36(5):412-4. PubMed ID: 10353789
    [Abstract] [Full Text] [Related]

  • 9. Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma.
    Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH.
    Mol Genet Metab; 2015 May 15; 115(2-3):91-4. PubMed ID: 25956449
    [Abstract] [Full Text] [Related]

  • 10. [Successful preimplantation genetic diagnosis for beta-thalassemia using primer extension preamplification].
    Jiao ZX, Zhuang GL, Zhou CQ, Shu YM, Li J, Liang XY, Zhang MF, Deng MF.
    Zhonghua Fu Chan Ke Za Zhi; 2003 Mar 15; 38(3):143-6. PubMed ID: 12816687
    [Abstract] [Full Text] [Related]

  • 11. Strategies and outcomes of PGD of familial adenomatous polyposis.
    Moutou C, Gardes N, Nicod JC, Viville S.
    Mol Hum Reprod; 2007 Feb 15; 13(2):95-101. PubMed ID: 17114207
    [Abstract] [Full Text] [Related]

  • 12. Preimplantation genetic diagnosis of beta-thalassemia using real-time polymerase chain reaction with fluorescence resonance energy transfer hybridization probes.
    Hung CC, Chen SU, Lin SY, Fang MY, Chang LJ, Tsai YY, Lin LT, Yang YS, Lee CN, Su YN.
    Anal Biochem; 2010 May 01; 400(1):69-77. PubMed ID: 20035706
    [Abstract] [Full Text] [Related]

  • 13. One-step multiplex polymerase chain reaction for preimplantation genetic diagnosis of Huntington disease.
    Peciña A, Lozano Arana MD, García-Lozano JC, Borrego S, Antiñolo G.
    Fertil Steril; 2010 May 01; 93(7):2411-2. PubMed ID: 19423106
    [Abstract] [Full Text] [Related]

  • 14. Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency.
    Lee NC, Shieh YD, Chien YH, Tzen KY, Yu IS, Chen PW, Hu MH, Hu MK, Muramatsu S, Ichinose H, Hwu WL.
    Neurobiol Dis; 2013 Apr 01; 52():177-90. PubMed ID: 23275025
    [Abstract] [Full Text] [Related]

  • 15. [Preimplantation genetic diagnosis of monogenic diseases].
    Moutou C, Viville S.
    Ann Biol Clin (Paris); 2003 Apr 01; 61(5):521-32. PubMed ID: 14671749
    [Abstract] [Full Text] [Related]

  • 16. A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.
    Montioli R, Battini R, Paiardini A, Tolve M, Bertoldi M, Carducci C, Leuzzi V, Borri Voltattorni C.
    Mol Genet Metab; 2019 Jun 01; 127(2):132-137. PubMed ID: 31104889
    [Abstract] [Full Text] [Related]

  • 17. Reduced allele dropout in single-cell analysis for preimplantation genetic diagnosis of cystic fibrosis.
    Ray PF, Winston RM, Handyside AH.
    J Assist Reprod Genet; 1996 Feb 01; 13(2):104-6. PubMed ID: 8688580
    [Abstract] [Full Text] [Related]

  • 18. Preimplantation genetic diagnosis of Canavan disease.
    Yaron Y, Schwartz T, Mey-Raz N, Amit A, Lessing JB, Malcov M.
    Fetal Diagn Ther; 2005 Feb 01; 20(5):465-8. PubMed ID: 16113575
    [Abstract] [Full Text] [Related]

  • 19. Experience in preimplantation genetic diagnosis for exclusion of homozygous alpha degrees thalassemia.
    Chan V, Ng EH, Yam I, Yeung WS, Ho PC, Chan TK.
    Prenat Diagn; 2006 Nov 01; 26(11):1029-36. PubMed ID: 16941716
    [Abstract] [Full Text] [Related]

  • 20. 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
    Chien YH, Chen PW, Lee NC, Hsieh WS, Chiu PC, Hwu WL, Tsai FJ, Lin SP, Chu SY, Jong YJ, Chao MC.
    Mol Genet Metab; 2016 Aug 01; 118(4):259-63. PubMed ID: 27216367
    [Abstract] [Full Text] [Related]

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