189 related articles for article (PubMed ID: 29317692)
1. Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma.
Ye J; Chen C; Yuan Y; Han L; Wang Y; Qiu W; Zhang H; Asan ; Gu X
Sci Rep; 2018 Jan; 8(1):161. PubMed ID: 29317692
[TBL] [Abstract][Full Text] [Related]
2. Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.
Peng D; Ganye Z; Gege S; Yanjie X; Ning L; Xiangdong K
BMC Med Genomics; 2021 Dec; 14(1):294. PubMed ID: 34920737
[TBL] [Abstract][Full Text] [Related]
3. A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood.
Wang W; Yuan Y; Zheng H; Wang Y; Zeng D; Yang Y; Yi X; Xia Y; Zhu C
Genet Test Mol Biomarkers; 2017 Jul; 21(7):433-439. PubMed ID: 28537755
[TBL] [Abstract][Full Text] [Related]
4. Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing.
Ma D; Ge H; Li X; Jiang T; Chen F; Zhang Y; Hu P; Chen S; Zhang J; Ji X; Xu X; Jiang H; Chen M; Wang W; Xu Z
Gene; 2014 Jul; 544(2):252-8. PubMed ID: 24768736
[TBL] [Abstract][Full Text] [Related]
5. DNA haplotype analyses of patients with hyperphenylalaninemia.
Di Silvestre D; Pandya A; Koch R; Groffen J
Am J Hum Genet; 1990 Oct; 47(4):706-11. PubMed ID: 2220810
[TBL] [Abstract][Full Text] [Related]
6. Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria.
Daiger SP; Lidsky AS; Chakraborty R; Koch R; Güttler F; Woo SL
Lancet; 1986 Feb; 1(8475):229-32. PubMed ID: 2868252
[TBL] [Abstract][Full Text] [Related]
7. Prenatal diagnosis of Chinese families with phenylketonuria.
Liu N; Kong XD; Zhao DH; Wu QH; Li XL; Guo HF; Cui LX; Jiang M; Shi HR
Genet Mol Res; 2015 Nov; 14(4):14615-28. PubMed ID: 26600521
[TBL] [Abstract][Full Text] [Related]
8. Non‑invasive prenatal diagnosis of thalassemia through multiplex PCR, target capture and next‑generation sequencing.
Yang X; Ye Y; Fan D; Lin S; Li M; Hou H; Zhang J; Yang X
Mol Med Rep; 2020 Aug; 22(2):1547-1557. PubMed ID: 32627040
[TBL] [Abstract][Full Text] [Related]
9. Haplotype-Based noninvasive prenatal diagnosis for duchenne muscular dystrophy: A pilot study in South China.
Chen M; Chen C; Li Y; Yuan Y; Lai Z; Guo F; Wang Y; Huang X; Li S; Wu R; Peng Z; Sun J; Chen D
Eur J Obstet Gynecol Reprod Biol; 2019 Sep; 240():15-22. PubMed ID: 31207536
[TBL] [Abstract][Full Text] [Related]
10. Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases.
Hui WW; Jiang P; Tong YK; Lee WS; Cheng YK; New MI; Kadir RA; Chan KC; Leung TY; Lo YM; Chiu RW
Clin Chem; 2017 Feb; 63(2):513-524. PubMed ID: 27932412
[TBL] [Abstract][Full Text] [Related]
11. Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma.
Xu Y; Li X; Ge HJ; Xiao B; Zhang YY; Ying XM; Pan XY; Wang L; Xie WW; Ni L; Chen SP; Jiang WT; Liu P; Ye H; Cao Y; Zhang JM; Liu Y; Yang ZJ; Chen YW; Chen F; Jiang H; Ji X
Genet Med; 2015 Nov; 17(11):889-96. PubMed ID: 25654318
[TBL] [Abstract][Full Text] [Related]
12. Non-invasive prenatal testing of pregnancies at risk for phenylketonuria.
Duan H; Liu N; Zhao Z; Liu Y; Wang Y; Li Z; Xu M; Cram DS; Kong X
Arch Dis Child Fetal Neonatal Ed; 2019 Jan; 104(1):F24-F29. PubMed ID: 29353259
[TBL] [Abstract][Full Text] [Related]
13. [Analysis of PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria].
Chai Y; Ning H; Xia J; Wang Y; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jun; 41(6):702-707. PubMed ID: 38818554
[TBL] [Abstract][Full Text] [Related]
14. [The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].
Yan Y; Hao S; Yao F; Sun Q; Zheng L; Zhang Q; Zhang C; Yang T; Huang S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Dec; 31(6):686-92. PubMed ID: 25449068
[TBL] [Abstract][Full Text] [Related]
15. DNA methylated alleles of the phenylalanine hydroxylase promoter remodeled at elevated phenylalanine levels in newborns with hyperphenylalaninemia.
Item CB; Farhadi S; Schanzer A; Greber-Platzer S
Clin Biochem; 2017 Aug; 50(12):729-732. PubMed ID: 28389235
[TBL] [Abstract][Full Text] [Related]
16. Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.
Zeevi DA; Altarescu G; Weinberg-Shukron A; Zahdeh F; Dinur T; Chicco G; Herskovitz Y; Renbaum P; Elstein D; Levy-Lahad E; Rolfs A; Zimran A
J Clin Invest; 2015 Oct; 125(10):3757-65. PubMed ID: 26426075
[TBL] [Abstract][Full Text] [Related]
17. Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
Svensson E; Eisensmith RC; Dworniczak B; von Döbeln U; Hagenfeldt L; Horst J; Woo SL
Hum Mutat; 1992; 1(2):129-37. PubMed ID: 1301200
[TBL] [Abstract][Full Text] [Related]
18. Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.
Hofman KJ; Antonarakis SE; Missiou-Tsangaraki S; Boehm CD; Valle D
Mol Biol Med; 1989 Jun; 6(3):245-50. PubMed ID: 2615649
[TBL] [Abstract][Full Text] [Related]
19. Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.
Cao YY; Qu YJ; Song F; Zhang T; Bai JL; Jin YW; Wang H
Mol Genet Metab; 2014 Dec; 113(4):261-6. PubMed ID: 25456745
[TBL] [Abstract][Full Text] [Related]
20. Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia.
Lam KW; Jiang P; Liao GJ; Chan KC; Leung TY; Chiu RW; Lo YM
Clin Chem; 2012 Oct; 58(10):1467-75. PubMed ID: 22896714
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
