-
1
-
-
7844233084
-
Slawen und Awaren auf rumänischen Boden, thre Beziehungen zu der bodenständigen romanischen und spateren fruhrumanischen Bevolkerung in Die Volker Sudosteuropas im 6. bis 8
-
Munchen-Berlin
-
Comsa M (1987) Slawen und Awaren auf rumänischen Boden, thre Beziehungen zu der bodenständigen romanischen und spateren fruhrumanischen Bevolkerung in Die Volker Sudosteuropas im 6. bis 8. Jahrhundert, Sudosteuropa Jahrbuch. Munchen-Berlin 17:219-230.
-
(1987)
Jahrhundert, Sudosteuropa Jahrbuch
, vol.17
, pp. 219-230
-
-
Comsa, M.1
-
2
-
-
0029932011
-
Molecular basis of non-PKU hyperphenylalaninemia in Spain: Prevalence of A403V, a mutation with high residual activity
-
Desviat LR, Perez B, Ugarte M (1987) Molecular basis of non-PKU hyperphenylalaninemia in Spain: Prevalence of A403V, a mutation with high residual activity. J Inher Metab Dis 2:227-230.
-
(1987)
J Inher Metab Dis
, vol.2
, pp. 227-230
-
-
Desviat, L.R.1
Perez, B.2
Ugarte, M.3
-
3
-
-
0025729944
-
PCR detection of the BglII RFLP at the human phenylalanine hydroxylase (PAH) locus
-
Dworniczak B, Wedemeyer N, Horst J (1991a) PCR detection of the BglII RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res 19:1958.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 1958
-
-
Dworniczak, B.1
Wedemeyer, N.2
Horst, J.3
-
4
-
-
0025729944
-
PCR detection of the PvuII(Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus
-
Dworniczak B, Wedemeyer N, Eigel A, Horst J (1991b) PCR detection of the PvuII(Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res 19.1958.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 1958
-
-
Dworniczak, B.1
Wedemeyer, N.2
Eigel, A.3
Horst, J.4
-
6
-
-
0026740026
-
Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) Locus
-
Eisensmith R, Woo SLC (1992) Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) Locus. Am J Hum Genet 51:1445-1448.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1445-1448
-
-
Eisensmith, R.1
Woo, S.L.C.2
-
7
-
-
0028885340
-
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans
-
Eisensmith RC, Goltsov A, O'Neill C, Tyfield L, Schwarz E, Kuzmin A, Baranovskaya S, Tsukerman G, Treacy E, Scriver C, Guttler F, Guldberg P, Eiken H, Apold J, Svensson E, Naaaughten E, Cahalane S, Croke D, Cockburn F, Woo SLC (1995) Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans. Am J Hum Genet 56:278-286.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 278-286
-
-
Eisensmith, R.C.1
Goltsov, A.2
O'Neill, C.3
Tyfield, L.4
Schwarz, E.5
Kuzmin, A.6
Baranovskaya, S.7
Tsukerman, G.8
Treacy, E.9
Scriver, C.10
Guttler, F.11
Guldberg, P.12
Eiken, H.13
Apold, J.14
Svensson, E.15
Naaaughten, E.16
Cahalane, S.17
Croke, D.18
Cockburn, F.19
Woo, S.L.C.20
more..
-
9
-
-
0026674882
-
Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene
-
Goltsov AA, Eisensmith RC, Konecki DS, Lichter-Konecki U, Woo SLC (1992b) Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene. Am J Hum Genet 51:627-636
-
(1992)
Am J Hum Genet
, vol.51
, pp. 627-636
-
-
Goltsov, A.A.1
Eisensmith, R.C.2
Konecki, D.S.3
Lichter-Konecki, U.4
Woo, S.L.C.5
-
10
-
-
0028178619
-
Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients
-
Guldberg P, Henriksen KF, Thony B, Blau N, Guttler F (1994) Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients. Genomics 21:453-455.
-
(1994)
Genomics
, vol.21
, pp. 453-455
-
-
Guldberg, P.1
Henriksen, K.F.2
Thony, B.3
Blau, N.4
Guttler, F.5
-
11
-
-
0029895020
-
Phenylalanine Hydroxylase Gene Mutations in the United States: Report from the Maternal PKU Collaborative Study
-
Guldberg P, Levy H, Hanley WB, Koch R, Matalon R, Rouse B, Trefz F, de la Cruz F, Henriksen KF, Guttler F (1996a) Phenylalanine Hydroxylase Gene Mutations in the United States: Report from the Maternal PKU Collaborative Study. Am J Hum Genet 59:84-94.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 84-94
-
-
Guldberg, P.1
Levy, H.2
Hanley, W.B.3
Koch, R.4
Matalon, R.5
Rouse, B.6
Trefz, F.7
De La Cruz, F.8
Henriksen, K.F.9
Guttler, F.10
-
12
-
-
0030064981
-
Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: Implications for diagnosis and genetic counselling
-
Guldberg P, Levy H, Henriksen KF, Guttler F (1996b) Three prevalent mutations in a patient with phenylalanine hydroxylase deficiency: implications for diagnosis and genetic counselling. J Med Genet 33:161-164.
-
(1996)
J Med Genet
, vol.33
, pp. 161-164
-
-
Guldberg, P.1
Levy, H.2
Henriksen, K.F.3
Guttler, F.4
-
13
-
-
0027248421
-
Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninemias
-
Guttler F, Guldberg P, Henncksen KF, Mikkelsen I, Olsen B, Lou H (1993) Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninemias. J Inherit Metab Dis 16:602-604
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 602-604
-
-
Guttler, F.1
Guldberg, P.2
Henncksen, K.F.3
Mikkelsen, I.4
Olsen, B.5
Lou, H.6
-
15
-
-
3042863211
-
PAH mutation analysis consortium database: A database for disease-producing and other allelic variation at the human PAH locus
-
Hoang L, Byck S, Prevost L, Scriver CR (1986) PAH mutation analysis consortium database: A database for disease-producing and other allelic variation at the human PAH locus. Nucleic Acids Res 24:127-131.
-
(1986)
Nucleic Acids Res
, vol.24
, pp. 127-131
-
-
Hoang, L.1
Byck, S.2
Prevost, L.3
Scriver, C.R.4
-
18
-
-
0027032213
-
A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria
-
Jaruzelska J, Melle D, Matuszak R, Borski K, Munnich A (1992) A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria. Hum Mol Genet 9:763-764.
-
(1992)
Hum Mol Genet
, vol.9
, pp. 763-764
-
-
Jaruzelska, J.1
Melle, D.2
Matuszak, R.3
Borski, K.4
Munnich, A.5
-
19
-
-
0027232724
-
Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian Kinship with phenylketonuria
-
Kleiman S, Li J, Schwartz G, Eisensmith RC, Woo SLC, Shiloh Y (1993) Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian Kinship with phenylketonuria. Hum Mol Genet 5:605-606
-
(1993)
Hum Mol Genet
, vol.5
, pp. 605-606
-
-
Kleiman, S.1
Li, J.2
Schwartz, G.3
Eisensmith, R.C.4
Woo, S.L.C.5
Shiloh, Y.6
-
20
-
-
0027018199
-
A 22-hp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab Family
-
Kleiman S, Schwartz G, Woo SLC, Shiloh Y (1992) A 22-hp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab Family. Hum Mutat 1:344-346.
-
(1992)
Hum Mutat
, vol.1
, pp. 344-346
-
-
Kleiman, S.1
Schwartz, G.2
Woo, S.L.C.3
Shiloh, Y.4
-
21
-
-
0025862159
-
The phenylketonuria locus. Current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations
-
Konecki DS, Lichter-Konecki U (1991) The phenylketonuria locus. Current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations. Hum Genet 87.377-388.
-
(1991)
Hum Genet
, vol.87
, pp. 377-388
-
-
Konecki, D.S.1
Lichter-Konecki, U.2
-
22
-
-
0030727361
-
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: Identification of four novel mutations
-
Kozak L, Blazkova M, Kuhrova V, Pijackova A, Ruzickova S, Stastna S (1997) Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: Identification of four novel mutations. J Med Genet 34:893-898.
-
(1997)
J Med Genet
, vol.34
, pp. 893-898
-
-
Kozak, L.1
Blazkova, M.2
Kuhrova, V.3
Pijackova, A.4
Ruzickova, S.5
Stastna, S.6
-
23
-
-
0027288399
-
Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia
-
Kozak L, Dvorakova D, Pijackova A, Kamaryt J (1993) Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia. J Inher Metab Dis 16:451-456.
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 451-456
-
-
Kozak, L.1
Dvorakova, D.2
Pijackova, A.3
Kamaryt, J.4
-
24
-
-
0029102236
-
Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families
-
Kozak L, Kuhrova V, Blazkova M, Romano V, Fajkusova L, Dvorakova D, Pijackova A (1995) Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families. Hum Genet 96:472-476.
-
(1995)
Hum Genet
, vol.96
, pp. 472-476
-
-
Kozak, L.1
Kuhrova, V.2
Blazkova, M.3
Romano, V.4
Fajkusova, L.5
Dvorakova, D.6
Pijackova, A.7
-
25
-
-
0029080007
-
Complete spectrum of PAII mutations in Tataria: Presence of Slavic, Turkic and Scandinavian mutations
-
Kuzmin A, Eisensmith R, Goltsov A, Sergeeva N, Schwartz E, Woo SLC (1995) Complete spectrum of PAII mutations in Tataria: Presence of Slavic, Turkic and Scandinavian mutations. Eur J Hum Genet 3:246-255.
-
(1995)
Eur J Hum Genet
, vol.3
, pp. 246-255
-
-
Kuzmin, A.1
Eisensmith, R.2
Goltsov, A.3
Sergeeva, N.4
Schwartz, E.5
Woo, S.L.C.6
-
26
-
-
0021918515
-
Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydioxylase
-
Kwok S, Ledley FD, DiLella AG, Robson K, Woo SLC (1985) Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydioxylase. Biochemistry 24:556-561.
-
(1985)
Biochemistry
, vol.24
, pp. 556-561
-
-
Kwok, S.1
Ledley, F.D.2
DiLella, A.G.3
Robson, K.4
Woo, S.L.C.5
-
27
-
-
0026080111
-
A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
-
Lahiri D, Numberger J (1990) A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 19:5444
-
(1990)
Nucleic Acids Res
, vol.19
, pp. 5444
-
-
Lahiri, D.1
Numberger, J.2
-
30
-
-
0031020421
-
Sequence variation at the phenylalanine hydroxylase gene in the British Isles
-
Tyfield LA, Stephenson A, Cockburn F, Harvie A, Bidwell JL, Wood NAP, Pilz DT, Harper P, Smith I (1997) Sequence variation at the phenylalanine hydroxylase gene in the British Isles. Am J Hum Genet 60:388-386.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 388-1386
-
-
Tyfield, L.A.1
Stephenson, A.2
Cockburn, F.3
Harvie, A.4
Bidwell, J.L.5
Wood, N.A.P.6
Pilz, D.T.7
Harper, P.8
Smith, I.9
-
31
-
-
0025865433
-
PCR detection of the MspI(Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus
-
Wedemeyer N, Dworniczak B, Horst J (1991) PCR detection of the MspI(Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus. Nucleic Acids Res 19:1959.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 1959
-
-
Wedemeyer, N.1
Dworniczak, B.2
Horst, J.3
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