37 related articles for article (PubMed ID: 19946181)
1. [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]
2. Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing.
Tendi EA; Morello G; Guarnaccia M; La Cognata V; Petralia S; Messina MA; Meli C; Fiumara A; Ruggieri M; Cavallaro S
Biomedicines; 2023 Jul; 11(7):. PubMed ID: 37509538
[TBL] [Abstract][Full Text] [Related]
3. Analysis of EX5del4232ins268 and EX5del955
Pampukha V; Nechyporenko M; Livshyts L
Genes Dis; 2017 Jun; 4(2):108-110. PubMed ID: 30258912
[TBL] [Abstract][Full Text] [Related]
4. Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.
Vieira Neto E; Laranjeira F; Quelhas D; Ribeiro I; Seabra A; Mineiro N; D M Carvalho L; Lacerda L; G Ribeiro M
Mol Genet Genomic Med; 2018 May; 6(4):575-91. PubMed ID: 29749107
[TBL] [Abstract][Full Text] [Related]
5. First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.
Soltani Z; Karami F; Yassaee V; Hashemi Gorji F; Talebzadeh M; Miryounesi M
Iran Red Crescent Med J; 2016 Feb; 18(2):e21633. PubMed ID: 27175306
[TBL] [Abstract][Full Text] [Related]
6. Carrier screening for spinal muscular atrophy in Italian population.
Calì F; Ruggeri G; Chiavetta V; Scuderi C; Bianca S; Barone C; Ragalmuto A; Schinocca P; Vitello GA; Romano V; Musumeci S
J Genet; 2014 Apr; 93(1):179-81. PubMed ID: 24840836
[No Abstract] [Full Text] [Related]
7. Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.
Cali F; Ragalmuto A; Chiavetta V; Calabrese G; Fichera M; Vinci M; Ruggeri G; Schinocca P; Sturnio M; Romano S; Romano V; Elia M
Exp Mol Med; 2010 Dec; 42(12):842-8. PubMed ID: 21072004
[TBL] [Abstract][Full Text] [Related]
8. Mutations in the phenylalanine hydroxylase gene: methods for their characterization.
Guldberg P; Güttler F
Acta Paediatr Suppl; 1994 Dec; 407():27-33. PubMed ID: 7766950
[TBL] [Abstract][Full Text] [Related]
9. Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.
Cali F; Ruggeri G; Vinci M; Meli C; Carducci C; Leuzzi V; Pozzessere S; Schinocca P; Ragalmuto A; Chiavetta V; Micciche S; Romano V
Exp Mol Med; 2010 Feb; 42(2):81-6. PubMed ID: 19946181
[TBL] [Abstract][Full Text] [Related]
10. Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.
Birk Møller L; Nygren AO; Scott P; Hougaard P; Bieber Nielsen J; Hartmann C; Güttler F; Tyfield L; Zschocke J
Hum Mutat; 2007 Feb; 28(2):207. PubMed ID: 17221866
[TBL] [Abstract][Full Text] [Related]
11. [Mutation analysis of phenylalanine hydroxylase gene in 55 patients with phenylketonuria from Hebei province].
Lu CX; Gao X; Wang JW; Zhang M; Zhu HW; Sun J; Xiao JF; Yang W; Zhao XL; Qi Z; Zhang X
Zhonghua Yi Xue Za Zhi; 2011 Nov; 91(42):2971-6. PubMed ID: 22333022
[TBL] [Abstract][Full Text] [Related]
12. Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.
Lee YW; Lee DH; Kim ND; Lee ST; Ahn JY; Choi TY; Lee YK; Kim SH; Kim JW; Ki CS
Exp Mol Med; 2008 Oct; 40(5):533-40. PubMed ID: 18985011
[TBL] [Abstract][Full Text] [Related]
13. Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants.
Yan Y; Zhang C; Jin X; Zhang Q; Zheng L; Feng X; Hao S; Gao H; Ma X
Metab Brain Dis; 2019 Jun; 34(3):733-745. PubMed ID: 30747360
[TBL] [Abstract][Full Text] [Related]
14. Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis.
Desviat LR; Pérez B; Ugarte M
Clin Chim Acta; 2006 Nov; 373(1-2):164-7. PubMed ID: 16875683
[TBL] [Abstract][Full Text] [Related]
15.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
16.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
17.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
18.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
