-
2
-
-
84987044642
-
Type Ia glycogen storage disease with focal nodular hyperplasia in siblings
-
2 Takamura M, Mugishima H, Oowada M, Harada K, Uchida T. Type Ia glycogen storage disease with focal nodular hyperplasia in siblings. Acta Paediatr. Jpn. 1995; 37: 510-13.
-
(1995)
Acta Paediatr. Jpn.
, vol.37
, pp. 510-513
-
-
Takamura, M.1
Mugishima, H.2
Oowada, M.3
Harada, K.4
Uchida, T.5
-
3
-
-
0023240297
-
Type ia glycogen storage disease with hepatoblastoma in siblings
-
3 Ito E, Sato Y, Kawauchi K et al. Type Ia glycogen storage disease with hepatoblastoma in siblings. Cancer 1987; 59: 1776-80 (Erratum: Cancer 1987; 60: 723).
-
(1987)
Cancer
, vol.59
, pp. 1776-1780
-
-
Ito, E.1
Sato, Y.2
Kawauchi, K.3
-
5
-
-
0027154217
-
Glycogen storage disease 1 and hepatocellular tumours
-
5 Bianchi L. Glycogen storage disease 1 and hepatocellular tumours. Eur. J. Pediatr. 1993; 152: S63-70.
-
(1993)
Eur. J. Pediatr.
, vol.152
-
-
Bianchi, L.1
-
6
-
-
77956998242
-
Enzymes of glycogen degradation in biopsy material
-
6 Hers HG, Hoof FV. Enzymes of glycogen degradation in biopsy material. Methods Enzymol. 1965; 8: 525-32.
-
(1965)
Methods Enzymol.
, vol.8
, pp. 525-532
-
-
Hers, H.G.1
Hoof, F.V.2
-
8
-
-
0027381941
-
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
-
8 Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. Science 1993; 262: 580-3.
-
(1993)
Science
, vol.262
, pp. 580-583
-
-
Lei, K.J.1
Shelly, L.L.2
Pan, C.J.3
Sidbury, J.B.4
Chou, J.Y.5
-
9
-
-
0028040051
-
Stepwise participation of p53 gene mutation during dedifferentiation of human thyroid carcinomas
-
9 Dobashi Y, Sugimura H, Sakamoto A et al. Stepwise participation of p53 gene mutation during dedifferentiation of human thyroid carcinomas. Diag. Mol. Pathol. 1994; 3: 9-14.
-
(1994)
Diag. Mol. Pathol.
, vol.3
, pp. 9-14
-
-
Dobashi, Y.1
Sugimura, H.2
Sakamoto, A.3
-
10
-
-
0028324633
-
Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type Ia
-
10 Lei KJ, Pan CJ, Shelly LL, Liu JL, Chou JY. Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type Ia. J. Clin. Invest. 1994; 93: 1994-9.
-
(1994)
J. Clin. Invest.
, vol.93
, pp. 1994-1999
-
-
Lei, K.J.1
Pan, C.J.2
Shelly, L.L.3
Liu, J.L.4
Chou, J.Y.5
-
11
-
-
0029135422
-
Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan
-
11 Kajihara S, Matsuhashi S, Yamamoto K et al. Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan. Am. J. Hum. Genet. 1995; 57: 549-55.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 549-555
-
-
Kajihara, S.1
Matsuhashi, S.2
Yamamoto, K.3
-
13
-
-
0029121574
-
Genetic basis of glycogen storage disease type 1a: Prevalent mutations at the glucose-6-phosphatase locus
-
13 Lei KJ, Chen YT, Chen H et al. Genetic basis of glycogen storage disease type 1a: Prevalent mutations at the glucose-6-phosphatase locus. Am. J. Hum. Genet. 1995; 57: 766-71.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 766-771
-
-
Lei, K.J.1
Chen, Y.T.2
Chen, H.3
-
14
-
-
0029815386
-
Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP)
-
14 Parvari R, Hershkovitz E, Carmi R, Moses S. Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP). Prenat. Diagn. 1996; 16: 862-5.
-
(1996)
Prenat. Diagn.
, vol.16
, pp. 862-865
-
-
Parvari, R.1
Hershkovitz, E.2
Carmi, R.3
Moses, S.4
-
15
-
-
0014446269
-
Hepatorenal glycogenosis (type 1 glycogenosis) and carcinoma of the liver
-
15 Zangench F, Limbeck GA, Brown BI. Hepatorenal glycogenosis (type 1 glycogenosis) and carcinoma of the liver. J. Pediatr. 1969; 74: 73-83.
-
(1969)
J. Pediatr.
, vol.74
, pp. 73-83
-
-
Zangench, F.1
Limbeck, G.A.2
Brown, B.I.3
-
16
-
-
9044250487
-
Germ line mutation at BRCA1 affects the histoprognostic grade in hereditary breast cancer
-
16 Eisinger F, Stoppa-Lyonnet D, Longy M et al. Germ line mutation at BRCA1 affects the histoprognostic grade in hereditary breast cancer. Cancer Res. 1996; 56: 471-4.
-
(1996)
Cancer Res.
, vol.56
, pp. 471-474
-
-
Eisinger, F.1
Stoppa-Lyonnet, D.2
Longy, M.3
-
17
-
-
0029742035
-
Genotype-phenotype correlation in von Hippel-Lindau disease: Identification of a mutation associated with VHL type 2A
-
17 Chen F, Slife L, Kishida T, Mulvihill J, Tisherman SE, Zbar B. Genotype-phenotype correlation in von Hippel-Lindau disease: Identification of a mutation associated with VHL type 2A. J. Med. Genet. 1996; 33: 716-17.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 716-717
-
-
Chen, F.1
Slife, L.2
Kishida, T.3
Mulvihill, J.4
Tisherman, S.E.5
Zbar, B.6
-
18
-
-
0031891357
-
Genotype-phenotype correlations in familial hypertrophie cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes (see comments)
-
18 Charron P, Dubourg O, Desnos M et al. Genotype-phenotype correlations in familial hypertrophie cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes (see comments). Eur. Heart J. 1998; 19; 139-45.
-
(1998)
Eur. Heart J.
, vol.19
, pp. 139-145
-
-
Charron, P.1
Dubourg, O.2
Desnos, M.3
-
19
-
-
0031940021
-
A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a
-
19 Keller KM, Schutz M, Podskarbi T, Bindl L, Lentze MJ, Shin YS. A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a. J. Pediatr. 1998; 132: 360-1.
-
(1998)
J. Pediatr.
, vol.132
, pp. 360-361
-
-
Keller, K.M.1
Schutz, M.2
Podskarbi, T.3
Bindl, L.4
Lentze, M.J.5
Shin, Y.S.6
-
20
-
-
0028982642
-
Accumulation of genetic changes during development and progression of hepatocellular carcinoma: Loss of heterozygosity of chromosome arm 1p occurs at an early stage of hepatocarcinogenesis
-
20 Kuroki T, Fujiwara Y, Tsuchiya E et al. Accumulation of genetic changes during development and progression of hepatocellular carcinoma: Loss of heterozygosity of chromosome arm 1p occurs at an early stage of hepatocarcinogenesis. Genes Chromosom. Cancer 1995; 13: 163-7.
-
(1995)
Genes Chromosom. Cancer
, vol.13
, pp. 163-167
-
-
Kuroki, T.1
Fujiwara, Y.2
Tsuchiya, E.3
-
21
-
-
0029129209
-
Evidence for the presence of two tumour-suppressor genes for hepatocellular carcinoma on chromosome 13q
-
21 Kuroki T, Fujiwara Y, Nakamori S, Imaoka S, Kanematsu T, Nakamura Y. Evidence for the presence of two tumour-suppressor genes for hepatocellular carcinoma on chromosome 13q. Br. J. Cancer 1995; 72: 383-5.
-
(1995)
Br. J. Cancer
, vol.72
, pp. 383-385
-
-
Kuroki, T.1
Fujiwara, Y.2
Nakamori, S.3
Imaoka, S.4
Kanematsu, T.5
Nakamura, Y.6
-
22
-
-
0030934236
-
Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers
-
22 Okubo M, Aoyama Y, Kishimoto M, Shishiba Y, Murase T. Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers. Clin. Genet. 1997; 51: 179-83.
-
(1997)
Clin. Genet.
, vol.51
, pp. 179-183
-
-
Okubo, M.1
Aoyama, Y.2
Kishimoto, M.3
Shishiba, Y.4
Murase, T.5
-
23
-
-
0028957250
-
Characterization of the mutations in the glucose-6-phosphatase gene in israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab
-
23 Parvari R, Moses S, Hershkovitz E, Carmi R, Bashan N. Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. J. Inherit. Metab. Dis. 1995; 18: 21-7.
-
(1995)
J. Inherit. Metab. Dis.
, vol.18
, pp. 21-27
-
-
Parvari, R.1
Moses, S.2
Hershkovitz, E.3
Carmi, R.4
Bashan, N.5
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