221 related articles for article (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
[TBL] [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
[TBL] [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; 548(2):299-305. PubMed ID: 25034658
[TBL] [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; 85(12):811-5. PubMed ID: 15949396
[TBL] [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; 22(8):1615-24. PubMed ID: 23321058
[TBL] [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; 26(11):1037-41. PubMed ID: 16941715
[TBL] [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; 145(1):9-13. PubMed ID: 19411132
[TBL] [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; 36(5):412-4. PubMed ID: 10353789
[TBL] [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; 115(2-3):91-4. PubMed ID: 25956449
[TBL] [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; 38(3):143-6. PubMed ID: 12816687
[TBL] [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; 13(2):95-101. PubMed ID: 17114207
[TBL] [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; 400(1):69-77. PubMed ID: 20035706
[TBL] [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; 93(7):2411-2. PubMed ID: 19423106
[TBL] [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; 52():177-90. PubMed ID: 23275025
[TBL] [Abstract][Full Text] [Related]
15. [Preimplantation genetic diagnosis of monogenic diseases].
Moutou C; Viville S
Ann Biol Clin (Paris); 2003; 61(5):521-32. PubMed ID: 14671749
[TBL] [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; 127(2):132-137. PubMed ID: 31104889
[TBL] [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; 13(2):104-6. PubMed ID: 8688580
[TBL] [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; 20(5):465-8. PubMed ID: 16113575
[TBL] [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; 26(11):1029-36. PubMed ID: 16941716
[TBL] [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; 118(4):259-63. PubMed ID: 27216367
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
