These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
88 related articles for article (PubMed ID: 8993180)
1. 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]
2. 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]
3. 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]
4. [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]
5. 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]
6. Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles. Popescu T; Blazkova M; Kozak L; Jebeleanu G; Popescu A Hum Mutat; 1998; 12(5):314-9. PubMed ID: 9792407 [TBL] [Abstract][Full Text] [Related]
7. [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]
8. 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]
9. 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]
10. 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]
12. Typing of families with classical phenylketonuria using three alleles of the Hindiii linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe. Family typing for PKU by linked HindIII RFLP. Speer A; Dahl HH; Riess O; Cobet G; Hanke R; Cotton RG; Coutelle C Clin Genet; 1986 Jun; 29(6):491-5. PubMed ID: 3017615 [TBL] [Abstract][Full Text] [Related]
13. Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement. Kozak L; Hrabincova E; Kintr J; Horky O; Zapletalova P; Blahakova I; Mejstrik P; Prochazkova D Mol Genet Metab; 2006 Dec; 89(4):300-9. PubMed ID: 16931086 [TBL] [Abstract][Full Text] [Related]
14. [Molecular genetic analysis of phenylketonuria in Bashkiria]. Viktorova TV; Murzabaeva SSh; Karunas AU; Magzhanov RV; Khusnutdinova EK Genetika; 1997 Jul; 33(7):992-5. PubMed ID: 9378295 [TBL] [Abstract][Full Text] [Related]
15. [New polymorphic sites in the structure of the human phenylalanine hydroxylase gene]. Smagulova FO; Morozov IV Genetika; 2000 Dec; 36(12):1716-8. PubMed ID: 11190481 [TBL] [Abstract][Full Text] [Related]
16. [Screening for mutations in the PAH gene in Chinese: a new splice and a novel polymorphic mutation]. Xu L; Miao S; Liu G Zhonghua Yi Xue Za Zhi; 1996 Jun; 76(6):451-4. PubMed ID: 9275491 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Molecular analysis of phenylketonuria (PKU) in newborns from Texas. Yang Y; Drummond-Borg M; Garcia-Heras J Hum Mutat; 2001 Jun; 17(6):523. PubMed ID: 11385716 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. [The power of linkage analysis on PAH gene in prenatal gene diagnosis is improved with three additional short tandem repeat markers]. Yao FX; Guo H; Han JJ; Meng Y; Sun NH; Huang SZ Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):382-6. PubMed ID: 17680525 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]