196 related articles for article (PubMed ID: 1968617)
1. A single origin of phenylketonuria in Yemenite Jews.
Avigad S; Cohen BE; Bauer S; Schwartz G; Frydman M; Woo SL; Niny Y; Shiloh Y
Nature; 1990 Mar; 344(6262):168-70. PubMed ID: 1968617
[TBL] [Abstract][Full Text] [Related]
2. A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.
Bercovich D; Elimelech A; Yardeni T; Korem S; Zlotogora J; Gal N; Goldstein N; Vilensky B; Segev R; Avraham S; Loewenthal R; Schwartz G; Anikster Y
Ann Hum Genet; 2008 May; 72(Pt 3):305-9. PubMed ID: 18294361
[TBL] [Abstract][Full Text] [Related]
3. RFLP discordance in a PKU family due to a deletion in the PAH gene.
Bosco P; Ceratto N; Cali F; Goltsov AA; Eisensmith RC; Novelli G; Dalla Piccola B; Romano V
Turk J Pediatr; 1996; 38(4):497-504. PubMed ID: 8993180
[TBL] [Abstract][Full Text] [Related]
4. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.
DiLella AG; Marvit J; Brayton K; Woo SL
Nature; 1987 May 28-Jun 3; 327(6120):333-6. PubMed ID: 2884570
[TBL] [Abstract][Full Text] [Related]
5. [Phenylketonuria as a model system for DNA diagnosis of hereditary disorders].
Meijer H; Hekking M; van den Enden AT; Jongbloed RJ; Schrander-Stumpel CT; Geraedts JP
Ned Tijdschr Geneeskd; 1990 Oct; 134(40):1954-8. PubMed ID: 1978255
[TBL] [Abstract][Full Text] [Related]
6. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.
Auslender N; Sharon D; Abbasi AH; Garzozi HJ; Banin E; Ben-Yosef T
Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5431-8. PubMed ID: 18055789
[TBL] [Abstract][Full Text] [Related]
7. Predicting a clinical/biochemical phenotype for PKU/MHP patients with PAH gene mutations.
Kasnauskiene J; Cimbalistiene L; Kucinskas V
Genetika; 2008 Oct; 44(10):1397-403. PubMed ID: 19062537
[TBL] [Abstract][Full Text] [Related]
8. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
Dobrowolski SF; Borski K; Ellingson CC; Koch R; Levy HL; Naylor EW
J Hum Genet; 2009 Jun; 54(6):335-9. PubMed ID: 19444284
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Modern techniques of differentiating the various phenotypes of phenylketonuria.
Guttler F
Postgrad Med J; 1989; 65 Suppl 2():S2-6. PubMed ID: 2576129
[TBL] [Abstract][Full Text] [Related]
11. [Mutation in the structure of exon 7 of the phenylalanine hydroxylase in phenylketonuria patients from the Novosibirsk area].
Smagulova FO; Maslennikov AB; Morozov IV; Kitaĭnik GP
Genetika; 2000 Jun; 36(6):849-52. PubMed ID: 10923269
[TBL] [Abstract][Full Text] [Related]
12. [Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].
Song F; Jin YW; Wang H; Yang YL; Zhang YM; Zhang T
Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2003 Apr; 25(2):142-4. PubMed ID: 12905706
[TBL] [Abstract][Full Text] [Related]
13. A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.
Weinstein M; Eisensmith RC; Abadie V; Avigad S; Lyonnet S; Schwartz G; Munnich A; Woo SL; Shiloh Y
Hum Genet; 1993 Feb; 90(6):645-9. PubMed ID: 8095248
[TBL] [Abstract][Full Text] [Related]
14. The PAH gene, phenylketonuria, and a paradigm shift.
Scriver CR
Hum Mutat; 2007 Sep; 28(9):831-45. PubMed ID: 17443661
[TBL] [Abstract][Full Text] [Related]
15. The molecular basis of phenylalanine hydroxylase deficiency in Croatia.
Zschocke J; Preusse A; Sarnavka V; Fumic K; Mardesic D; Hoffmann GF; Baric I
Hum Mutat; 2003 Apr; 21(4):399. PubMed ID: 12655552
[TBL] [Abstract][Full Text] [Related]
16. Molecular analysis of the phenylalanine hydroxylase gene in Mexican phenylketonuric patients.
Nicolini H; Cruz C; Camarena B; Fernanda Merino M; Bilbao G; Vela M; Velázquez A; Pérez B; Desviat L; Ugarte M
Arch Med Res; 1995; 26(1):53-7. PubMed ID: 7711448
[TBL] [Abstract][Full Text] [Related]
17. Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Acosta A; Silva W; Carvalho T; Gomes M; Zago M
Hum Mutat; 2001 Feb; 17(2):122-30. PubMed ID: 11180595
[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. Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).
Haefele MJ; White G; McDonald JD
Mol Genet Metab; 2001 Jan; 72(1):27-30. PubMed ID: 11161825
[TBL] [Abstract][Full Text] [Related]
20. [Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].
Zhang J; Meng J; Zhai X; Fang G; Gao J; Shi M; Wang Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr; 22(2):134-7. PubMed ID: 15793771
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
