-
1
-
-
0033986264
-
PAHdb: a locus -specific knowledgebase
-
Scriver C.R., Waters P.J., Sarkission C., Ryan S., Prevost L., Cote D., Novak J., Teebi S., and Nowacki P.M. PAHdb: a locus -specific knowledgebase. Hum Genet. 15 (2000) 99-104
-
(2000)
Hum Genet.
, vol.15
, pp. 99-104
-
-
Scriver, C.R.1
Waters, P.J.2
Sarkission, C.3
Ryan, S.4
Prevost, L.5
Cote, D.6
Novak, J.7
Teebi, S.8
Nowacki, P.M.9
-
2
-
-
33749512960
-
-
C.R. Scriver, S. Kaufman, Hyperphenylalaninemia; phenylalanine hydroxylase deficiency, in: C.R. Scriver, A. Beaudet, W.S. Sly, D. Walle (Eds.), B. Childs, K.W. Kinzler, B. Vogelstein (Assoc Eds.), The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, 2001, pp. 1667-1724.
-
-
-
-
3
-
-
33749519976
-
-
J. Dunlon, H.L. Levy, C.R. Scriver, Hyperphenylalaninemia; phenylalanine hydroxylase deficiency. Chapter 77 Online. http://genetics.accessmedicine.com/.
-
-
-
-
4
-
-
33749528948
-
-
C.R. Scriver, A. Beaudet, W.S. Sly, D. Walle, in: B. Childs, K.W. Kinzler, B. Vogelstein (Assoc Eds.), The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill Book Co., New York, 2005.
-
-
-
-
5
-
-
0035020939
-
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (DHPLC): major implications for genetic counseling
-
Le Marechal C., Audrezet M.P., Quere I., Raguenes O., Langonne S., and Ferec C. Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (DHPLC): major implications for genetic counseling. Hum Genet. 15 1 (2000) 290-298
-
(2000)
Hum Genet.
, vol.15
, Issue.1
, pp. 290-298
-
-
Le Marechal, C.1
Audrezet, M.P.2
Quere, I.3
Raguenes, O.4
Langonne, S.5
Ferec, C.6
-
6
-
-
2642695719
-
BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics
-
Wagner T.M., Moslinger R.A., Muhr D., Langbauer G., Hirtenlehner K., Concin H., Doeller W., Haid A., Lang A.H., Mayer P., Ropp E., Kubista E., Amirimani B., Helbich T., Becherer A., Scheiner O., Breiteneder H., Borg A., Devilee P., Oefner P., and Zielinski C. BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. Int. J. Cancer 77 (1998) 354-366
-
(1998)
Int. J. Cancer
, vol.77
, pp. 354-366
-
-
Wagner, T.M.1
Moslinger, R.A.2
Muhr, D.3
Langbauer, G.4
Hirtenlehner, K.5
Concin, H.6
Doeller, W.7
Haid, A.8
Lang, A.H.9
Mayer, P.10
Ropp, E.11
Kubista, E.12
Amirimani, B.13
Helbich, T.14
Becherer, A.15
Scheiner, O.16
Breiteneder, H.17
Borg, A.18
Devilee, P.19
Oefner, P.20
Zielinski, C.21
more..
-
7
-
-
0033054176
-
Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations
-
Wagner T.M., Hirtenlehner K., Shen P., Moeslinger R., Muhr D., Fleischmann E., Concin H., Doller W., Haid A., Lang A.H., Mayer P., Petru E., Ropp E., Langbauer G., Kubista E., Ssheiner O., Underhill P., Mountain J., Stierer M., Zielinski C., and Oefner P. Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. Hum. Mol. Genet. 8 3 (1999) 413-423
-
(1999)
Hum. Mol. Genet.
, vol.8
, Issue.3
, pp. 413-423
-
-
Wagner, T.M.1
Hirtenlehner, K.2
Shen, P.3
Moeslinger, R.4
Muhr, D.5
Fleischmann, E.6
Concin, H.7
Doller, W.8
Haid, A.9
Lang, A.H.10
Mayer, P.11
Petru, E.12
Ropp, E.13
Langbauer, G.14
Kubista, E.15
Ssheiner, O.16
Underhill, P.17
Mountain, J.18
Stierer, M.19
Zielinski, C.20
Oefner, P.21
more..
-
8
-
-
0037340760
-
DHPLC mutation analysis of phenylketonuria
-
Brautigam S., Kujat A., Kirst P., Seidel J., Lüleyap H.U., and Froster U.G. DHPLC mutation analysis of phenylketonuria. Mol. Genet. Metabol. 78 (2003) 205-210
-
(2003)
Mol. Genet. Metabol.
, vol.78
, pp. 205-210
-
-
Brautigam, S.1
Kujat, A.2
Kirst, P.3
Seidel, J.4
Lüleyap, H.U.5
Froster, U.G.6
-
10
-
-
11244321832
-
The Drosophila U1-70K protein is required for viability, but its arginine-rich domain is dispensable
-
Salz H.K., Mancebo R.S., Nagengast A.A., Speck O., Psotka M., and Mount S.M. The Drosophila U1-70K protein is required for viability, but its arginine-rich domain is dispensable. Genetics 168 4 (2004) 2059-2065
-
(2004)
Genetics
, vol.168
, Issue.4
, pp. 2059-2065
-
-
Salz, H.K.1
Mancebo, R.S.2
Nagengast, A.A.3
Speck, O.4
Psotka, M.5
Mount, S.M.6
-
11
-
-
3242892659
-
Nuclear receptor recruitment of histone-modifying enzymes to target gene promoters
-
Tsai C.C., and Fondell J.D. Nuclear receptor recruitment of histone-modifying enzymes to target gene promoters. Vitam. Horm. 68 (2004) 93-122
-
(2004)
Vitam. Horm.
, vol.68
, pp. 93-122
-
-
Tsai, C.C.1
Fondell, J.D.2
-
12
-
-
15744389218
-
A unique sequence motif in the 54-kDa subunit of the chloroplast signal recognition particle mediates binding to the 43-kDa subunit
-
Funke S., Knechten T., Ollesch J., and Schünemann D. A unique sequence motif in the 54-kDa subunit of the chloroplast signal recognition particle mediates binding to the 43-kDa subunit. J. Biol. Chem. 280 10 (2005) 8912-8917
-
(2005)
J. Biol. Chem.
, vol.280
, Issue.10
, pp. 8912-8917
-
-
Funke, S.1
Knechten, T.2
Ollesch, J.3
Schünemann, D.4
-
13
-
-
0026650421
-
Analysis of the importance of arginine 102 in neutral endopeptidase (enkephalinase) catalysis
-
Kim A.Y., Shriver B., Quay T., and Hersh L.B. Analysis of the importance of arginine 102 in neutral endopeptidase (enkephalinase) catalysis. J. Biol. Chem. 267 17 (1992) 12330-12335
-
(1992)
J. Biol. Chem.
, vol.267
, Issue.17
, pp. 12330-12335
-
-
Kim, A.Y.1
Shriver, B.2
Quay, T.3
Hersh, L.B.4
-
14
-
-
33645070833
-
The critical role of arginine residues in the binding of human monoclonal antibodies to cardiolipin
-
Giles I., Lambrianides N., Latchman D., Chen P., Chukwuocha R., Isenberg D., and Rahman A. The critical role of arginine residues in the binding of human monoclonal antibodies to cardiolipin. Arthritis. Res. Ther. 7 (2005) R47-R56
-
(2005)
Arthritis. Res. Ther.
, vol.7
-
-
Giles, I.1
Lambrianides, N.2
Latchman, D.3
Chen, P.4
Chukwuocha, R.5
Isenberg, D.6
Rahman, A.7
-
15
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl. Acids Res. 16 (1988) 1215
-
(1988)
Nucl. Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
16
-
-
0031472356
-
Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations
-
Kayaalp E., Treacy E., Waters P.J., Byck S., Nowacki P., and Scriver C.R. Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations. Am. J. Hum. Genet. 61 (1997) 1309-1317
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 1309-1317
-
-
Kayaalp, E.1
Treacy, E.2
Waters, P.J.3
Byck, S.4
Nowacki, P.5
Scriver, C.R.6
-
17
-
-
0028888322
-
Molecular genetics of phenylketenuria: from molecular anthropology to gene therapy
-
Eisensmith R.C., and Woo S.L. Molecular genetics of phenylketenuria: from molecular anthropology to gene therapy. Adv. Genet. 32 (1995) 199-271
-
(1995)
Adv. Genet.
, vol.32
, pp. 199-271
-
-
Eisensmith, R.C.1
Woo, S.L.2
-
18
-
-
0037237526
-
Phenyketonuria mutations in Europa
-
Zschocke J. Phenyketonuria mutations in Europa. Hum. Mutat. 21 4 (2003) 345-356
-
(2003)
Hum. Mutat.
, vol.21
, Issue.4
, pp. 345-356
-
-
Zschocke, J.1
-
19
-
-
0030922785
-
The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples
-
Cali F., Dianzani I., Desviat L.R., Perez B., Ugarte M., Ozguc M., Seyrantepe V., Shiloh Y., Giannattasio S., Carducci C., Bosco P., De Leo G., Piazza A., and Romano V. The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples. Hum. Genet. 100 3/4 (1997) 350-355
-
(1997)
Hum. Genet.
, vol.100
, Issue.3-4
, pp. 350-355
-
-
Cali, F.1
Dianzani, I.2
Desviat, L.R.3
Perez, B.4
Ugarte, M.5
Ozguc, M.6
Seyrantepe, V.7
Shiloh, Y.8
Giannattasio, S.9
Carducci, C.10
Bosco, P.11
De Leo, G.12
Piazza, A.13
Romano, V.14
-
20
-
-
0027450544
-
Mutation analysis in Turkish phenylketanuria patients
-
Ozguc M., Ozalp I., Coskun T., Yilmaz E., Erdem H., and Ayter S. Mutation analysis in Turkish phenylketanuria patients. J. Med. Genet. 30 (1993) 129-130
-
(1993)
J. Med. Genet.
, vol.30
, pp. 129-130
-
-
Ozguc, M.1
Ozalp, I.2
Coskun, T.3
Yilmaz, E.4
Erdem, H.5
Ayter, S.6
-
21
-
-
0028067345
-
Genetic history of phenylketonuria mutations in Italy
-
Dianzoni I., Giannatsio S., de L., Sanctis M.E., Ponzone A., Camaschella C., and Piazza A. Genetic history of phenylketonuria mutations in Italy. Am. J. Hum. Genet. 55 (1994) 851-853
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 851-853
-
-
Dianzoni, I.1
Giannatsio, S.2
de, L.3
Sanctis, M.E.4
Ponzone, A.5
Camaschella, C.6
Piazza, A.7
-
22
-
-
0027377157
-
Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninaemia in Southern Europa
-
Guldberg P., Romona V., Ceratto N., Bosco P., Ciuna M., Indelicato A., Mollica F., Meli C., Giovannini M., Riva E., Biasucci G., Henriksen K.F., and Guntler F. Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninaemia in Southern Europa. Hum. Mol. Genet. 2 (1993) 1703-1707
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1703-1707
-
-
Guldberg, P.1
Romona, V.2
Ceratto, N.3
Bosco, P.4
Ciuna, M.5
Indelicato, A.6
Mollica, F.7
Meli, C.8
Giovannini, M.9
Riva, E.10
Biasucci, G.11
Henriksen, K.F.12
Guntler, F.13
-
23
-
-
0031025977
-
Analysis of the phenylalanine hydroxylase gene in the Spanish population. Mutation profile and association with intragenic polymorphic markers
-
Perez B., Desviat L.R., and Ugarte M. Analysis of the phenylalanine hydroxylase gene in the Spanish population. Mutation profile and association with intragenic polymorphic markers. Am. J. Hum. Genet. 60 (1997) 95-102
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 95-102
-
-
Perez, B.1
Desviat, L.R.2
Ugarte, M.3
-
24
-
-
0031979714
-
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal
-
Rivera L., Leandro P., Lichter U.K., Tavares de Almeida L., and Lechner M.C. Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal. J. Med. Genet. 35 (1998) 301-304
-
(1998)
J. Med. Genet.
, vol.35
, pp. 301-304
-
-
Rivera, L.1
Leandro, P.2
Lichter, U.K.3
Tavares de Almeida, L.4
Lechner, M.C.5
-
25
-
-
0023530323
-
Consanquineous marriages in Turkey and its effects on infant mortality
-
Ulusoy M., and Tunçbilek E. Consanquineous marriages in Turkey and its effects on infant mortality. Nufusbil Derg. 9 (1987) 7-26
-
(1987)
Nufusbil Derg.
, vol.9
, pp. 7-26
-
-
Ulusoy, M.1
Tunçbilek, E.2
-
26
-
-
0030908409
-
Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations
-
Byck S., Tyfield L., Carter K., and Scriver C.R. Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations. Hum. Mutat. 9 4 (1997) 316-321
-
(1997)
Hum. Mutat.
, vol.9
, Issue.4
, pp. 316-321
-
-
Byck, S.1
Tyfield, L.2
Carter, K.3
Scriver, C.R.4
-
27
-
-
0037242864
-
A role for overdominant selection in phenylketonuria? Evidence from molecular data
-
Krawczak M., and Zschocke J. A role for overdominant selection in phenylketonuria? Evidence from molecular data. Hum. Mutat. 21 4 (2003) 394-397
-
(2003)
Hum. Mutat.
, vol.21
, Issue.4
, pp. 394-397
-
-
Krawczak, M.1
Zschocke, J.2
-
28
-
-
0032169998
-
Rhyme or reason: RNA-arginine interactions and the genetic code
-
Knight R.D., and Landweber L.F. Rhyme or reason: RNA-arginine interactions and the genetic code. Chem. Biol. 5 9 (1998) R215-R220
-
(1998)
Chem. Biol.
, vol.5
, Issue.9
-
-
Knight, R.D.1
Landweber, L.F.2
-
29
-
-
0028999716
-
Catalytic role of an arginine residue in the highly conserved and unique sequence of phosphoenolpyruvate carboxylase
-
Yano M., Terada K., Umiji K., and Izui K. Catalytic role of an arginine residue in the highly conserved and unique sequence of phosphoenolpyruvate carboxylase. J. Biochem. (Tokyo) 117 6 (1995) 1196-1200
-
(1995)
J. Biochem. (Tokyo)
, vol.117
, Issue.6
, pp. 1196-1200
-
-
Yano, M.1
Terada, K.2
Umiji, K.3
Izui, K.4
|