-
1
-
-
0029848854
-
Mutation update: Glucocerebrosidase (Gaucher disease)
-
E Beutler T Gelbart Mutation update: Glucocerebrosidase (Gaucher disease) Hum Mutat 8 1996 207 213
-
(1996)
Hum Mutat
, vol.8
, pp. 207-213
-
-
Beutler, E1
Gelbart, T2
-
4
-
-
85119797055
-
-
Beutler, E, Grabowski, G, A, Gaucher disease, Scriver, C, RBeaudet, A, LSly, W, SValle, D, The Metabolic and Molecular Bases of Inherited Disease, New York, McGraw-Hill Publishing Company, 2641, 2670, 1995
-
-
-
-
5
-
-
0028875475
-
The clinical course of treated and untreated Gaucher disease. A study of 45 patients
-
E Beutler A Demina K Laubscher The clinical course of treated and untreated Gaucher disease. A study of 45 patients Blood Cells Mol Dis 21 1995 86 108
-
(1995)
Blood Cells Mol Dis
, vol.21
, pp. 86-108
-
-
Beutler, E1
Demina, A2
Laubscher, K3
-
6
-
-
0031038563
-
Gaucher disease
-
E Beutler Gaucher disease Curr Opin Hematol 4 1997 19 23
-
(1997)
Curr Opin Hematol
, vol.4
, pp. 19-23
-
-
Beutler, E1
-
7
-
-
0028852471
-
Gaucher disease
-
E Beutler Gaucher disease Adv Genet 32 1995 17 49
-
(1995)
Adv Genet
, vol.32
, pp. 17-49
-
-
Beutler, E1
-
8
-
-
0029160892
-
Recent advances in diagnosis and therapy in Gaucher's disease
-
D Elstein A Zimran Recent advances in diagnosis and therapy in Gaucher's disease Isr J Med Sci 31 1995 505 509
-
(1995)
Isr J Med Sci
, vol.31
, pp. 505-509
-
-
Elstein, D1
Zimran, A2
-
9
-
-
0029652072
-
Morbus Gaucher. Diagnose und Therapie
-
PE Petrides Morbus Gaucher. Diagnose und Therapie Dtsch Med Wochenschr 120 1995 1177 1182
-
(1995)
Dtsch Med Wochenschr
, vol.120
, pp. 1177-1182
-
-
Petrides, PE1
-
11
-
-
0030633019
-
New perspectives in type 2 Gaucher disease
-
E Sidransky New perspectives in type 2 Gaucher disease Adv Pediatr 44 1997 73 107
-
(1997)
Adv Pediatr
, vol.44
, pp. 73-107
-
-
Sidransky, E1
-
12
-
-
0022345601
-
Molecular cloning and nucleotide sequence of the human glucocerebrosidase gene
-
J Sorge C West B Westwood E Beutler Molecular cloning and nucleotide sequence of the human glucocerebrosidase gene Proc Natl Acad Sci USA 82 1985 7289 7293
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 7289-7293
-
-
Sorge, J1
West, C2
Westwood, B3
Beutler, E4
-
13
-
-
0029797046
-
Mutation nomenclature: Nicknames, systematic names, and unique identifiers
-
E Beutler VA McKusick AG Motulsky CR Scriver F Hutchinson Mutation nomenclature: Nicknames, systematic names, and unique identifiers Hum Mutat 8 1996 203 206
-
(1996)
Hum Mutat
, vol.8
, pp. 203-206
-
-
Beutler, E1
McKusick, VA2
Motulsky, AG3
Scriver, CR4
Hutchinson, F5
-
16
-
-
0027474810
-
Identification of six new Gaucher disease mutations
-
E Beutler T Gelbart C West Identification of six new Gaucher disease mutations Genomics 15 1993 203 205
-
(1993)
Genomics
, vol.15
, pp. 203-205
-
-
Beutler, E1
Gelbart, T2
West, C3
-
17
-
-
0025831078
-
Identification of the second common Jewish Gaucher disease mutation makes possible population based screening for the heterozygous state
-
E Beutler T Gelbart W Kuhl J Sorge C West Identification of the second common Jewish Gaucher disease mutation makes possible population based screening for the heterozygous state Proc Natl Acad Sci USA 88 1991 10544 10547
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 10544-10547
-
-
Beutler, E1
Gelbart, T2
Kuhl, W3
Sorge, J4
West, C5
-
18
-
-
0031968178
-
Molecular analysis and clinical findings in the Spanish Gaucher disease population. Putative haplotype of the N370S ancestral chromosome
-
B Cormand D Grinberg L Gort A Chabas L Vilageliu Molecular analysis and clinical findings in the Spanish Gaucher disease population. Putative haplotype of the N370S ancestral chromosome Hum Mutat 1998
-
(1998)
Hum Mutat
-
-
Cormand, B1
Grinberg, D2
Gort, L3
Chabas, A4
Vilageliu, L5
-
19
-
-
0026594203
-
Mutations in Jewish patients with Gaucher disease
-
E Beutler T Gelbart W Kuhl A Zimran C West Mutations in Jewish patients with Gaucher disease Blood 79 1992 1662 1666
-
(1992)
Blood
, vol.79
, pp. 1662-1666
-
-
Beutler, E1
Gelbart, T2
Kuhl, W3
Zimran, A4
West, C5
-
20
-
-
0031049440
-
Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient
-
F YM Choy ML Humphries P Ferreira Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient Am J Med Genet 68 1997 211 215
-
(1997)
Am J Med Genet
, vol.68
, pp. 211-215
-
-
Choy, F YM1
Humphries, ML2
Ferreira, P3
-
21
-
-
0029868603
-
Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations
-
J-W Kim BB Liou M-Y Lai E Ponce GA Grabowski Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations Hum Mutat 7 1996 214 218
-
(1996)
Hum Mutat
, vol.7
, pp. 214-218
-
-
Kim, J-W1
Liou, BB2
Lai, M-Y3
Ponce, E4
Grabowski, GA5
-
23
-
-
0030802059
-
Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients
-
F YM Choy ML Humphries HP Shi Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients Am J Med Genet 71 1997 172 178
-
(1997)
Am J Med Genet
, vol.71
, pp. 172-178
-
-
Choy, F YM1
Humphries, ML2
Shi, HP3
-
25
-
-
0030927207
-
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients
-
ME Grace RJ Desnick GM Pastores Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients J Clin Invest 99 1997 2530 2537
-
(1997)
J Clin Invest
, vol.99
, pp. 2530-2537
-
-
Grace, ME1
Desnick, RJ2
Pastores, GM3
-
26
-
-
0030139613
-
Gaucher disease: Four families with previously undescribed mutations
-
E Beutler T Gelbart D Balicki Gaucher disease: Four families with previously undescribed mutations Proc Assoc Amer Phys 108 1996 179 184
-
(1996)
Proc Assoc Amer Phys
, vol.108
, pp. 179-184
-
-
Beutler, E1
Gelbart, T2
Balicki, D3
-
28
-
-
0023714905
-
Gaucher disease type 1: Cloning and characterization of a cDNA encoding acid β-glucosidase from an Ashkenazi Jewish patient
-
PN Graves GA Grabowski R Eisner P Palese FI Smith Gaucher disease type 1: Cloning and characterization of a cDNA encoding acid β-glucosidase from an Ashkenazi Jewish patient DNA 7 1988 521 528
-
(1988)
DNA
, vol.7
, pp. 521-528
-
-
Graves, PN1
Grabowski, GA2
Eisner, R3
Palese, P4
Smith, FI5
-
29
-
-
0030671265
-
Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene
-
N Tayebi SR Cushner W Kleijer Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene Am J Med Genet 73 1997 41 47
-
(1997)
Am J Med Genet
, vol.73
, pp. 41-47
-
-
Tayebi, N1
Cushner, SR2
Kleijer, W3
-
30
-
-
0025882789
-
Three unique base pair changes in a family with Gaucher disease
-
N Eyal N Firon S Wilder EH Kolodny M Horowitz Three unique base pair changes in a family with Gaucher disease Hum Genet 87 1991 328 332
-
(1991)
Hum Genet
, vol.87
, pp. 328-332
-
-
Eyal, N1
Firon, N2
Wilder, S3
Kolodny, EH4
Horowitz, M5
-
31
-
-
85119811682
-
-
Cormand, B, Harboe, T, L, Gort, L, Mutation analysis of Gaucher disease patients from Argentina: High prevalence of the RecNciI mutation, In preparation , 1998
-
-
-
-
32
-
-
0029024220
-
Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease
-
F YM Choy C Wei Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease Hum Mutat 5 1995 345 347
-
(1995)
Hum Mutat
, vol.5
, pp. 345-347
-
-
Choy, F YM1
Wei, C2
-
33
-
-
0031043599
-
Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: Identification of four novel mutations
-
H Ida OM Rennert H Kawame K Maekawa Y Eto Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: Identification of four novel mutations J Inher Metab Dis 20 1997 67 73
-
(1997)
J Inher Metab Dis
, vol.20
, pp. 67-73
-
-
Ida, H1
Rennert, OM2
Kawame, H3
Maekawa, K4
Eto, Y5
-
34
-
-
85119786280
-
-
Beutler, E, Demina, A, Unpublished , 1998
-
-
-
-
35
-
-
0026347931
-
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients
-
H Kawame Y Eto A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients Am J Hum Genet 49 1991 1378 1380
-
(1991)
Am J Hum Genet
, vol.49
, pp. 1378-1380
-
-
Kawame, H1
Eto, Y2
-
36
-
-
0025297048
-
Gaucher disease associated with a uniqueKpn
-
E Beutler T Gelbart Gaucher disease associated with a unique Kpn Ann Hum Genet 54 1990 149 153
-
(1990)
Ann Hum Genet
, vol.54
, pp. 149-153
-
-
Beutler, E1
Gelbart, T2
-
37
-
-
0028866819
-
Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D)
-
AJ Walley I Ellis A Harris Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D) Br J Haematol 91 1995 330 332
-
(1995)
Br J Haematol
, vol.91
, pp. 330-332
-
-
Walley, AJ1
Ellis, I2
Harris, A3
-
38
-
-
0027035014
-
Gaucher disease: Four rare missense mutations encoding F213I, F289Y, T323I and R463C in type I variants
-
G-S He ME Grace GA Grabowski Gaucher disease: Four rare missense mutations encoding F213I, F289Y, T323I and R463C in type I variants Hum Mutat 1 1992 423 427
-
(1992)
Hum Mutat
, vol.1
, pp. 423-427
-
-
He, G-S1
Grace, ME2
Grabowski, GA3
-
39
-
-
0025973846
-
Heterogeneity of mutations in the acid β-glucosidase gene of Gaucher disease patients
-
TE Latham B DM Theophilus GA Grabowski FI Smith Heterogeneity of mutations in the acid β-glucosidase gene of Gaucher disease patients DNA Cell Biol 10 1991 15 21
-
(1991)
DNA Cell Biol
, vol.10
, pp. 15-21
-
-
Latham, TE1
Theophilus, B DM2
Grabowski, GA3
Smith, FI4
-
40
-
-
0029919781
-
Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients
-
B Cormand L Vilageliu S Balcells R Gonzalez-Duarte A Chabas D Grinberg Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients Hum Mutat 7 1996 272 274
-
(1996)
Hum Mutat
, vol.7
, pp. 272-274
-
-
Cormand, B1
Vilageliu, L2
Balcells, S3
Gonzalez-Duarte, R4
Chabas, A5
Grinberg, D6
-
41
-
-
0025601733
-
Prevalent and rare mutations among Gaucher patients
-
N Eyal S Wilder M Horowitz Prevalent and rare mutations among Gaucher patients Gene 96 1990 277 283
-
(1990)
Gene
, vol.96
, pp. 277-283
-
-
Eyal, N1
Wilder, S2
Horowitz, M3
-
42
-
-
0028158359
-
Two new Gaucher disease mutations
-
E Beutler T Gelbart Two new Gaucher disease mutations Hum Genet 93 1994 209 210
-
(1994)
Hum Genet
, vol.93
, pp. 209-210
-
-
Beutler, E1
Gelbart, T2
-
43
-
-
0026541796
-
Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms
-
H Kawame Y Hasegawa Y Eto K Maekawa Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms Hum Genet 90 1992 294 296
-
(1992)
Hum Genet
, vol.90
, pp. 294-296
-
-
Kawame, H1
Hasegawa, Y2
Eto, Y3
Maekawa, K4
-
44
-
-
0024121474
-
Genetic heterogeneity in type 1 Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals
-
S Tsuji BM Martin JA Barranger BK Stubblefield ME LaMarca EI Ginns Genetic heterogeneity in type 1 Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals Proc Natl Acad Sci USA 85 1988 2349 2352
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 2349-2352
-
-
Tsuji, S1
Martin, BM2
Barranger, JA3
Stubblefield, BK4
LaMarca, ME5
Ginns, EI6
-
45
-
-
0031005312
-
Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses
-
B Cormand D Grinberg L Gort Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses Am J Med Genet 70 1997 437 443
-
(1997)
Am J Med Genet
, vol.70
, pp. 437-443
-
-
Cormand, B1
Grinberg, D2
Gort, L3
-
46
-
-
0028286166
-
Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β-glucosidase gene
-
KH Laubscher RH Glew RE Lee RT Okinaka Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β-glucosidase gene Hum Mutat 3 1994 411 415
-
(1994)
Hum Mutat
, vol.3
, pp. 411-415
-
-
Laubscher, KH1
Glew, RH2
Lee, RE3
Okinaka, RT4
-
47
-
-
0027371940
-
A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease
-
AJ Walley A Harris A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease Hum Mol Genet 2 1993 1737 1738
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1737-1738
-
-
Walley, AJ1
Harris, A2
-
48
-
-
0024426498
-
Comparison of RNase A, chemical cleavage, and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid β-glucosidase gene
-
B DM Theophilus T Latham GA Grabowski FI Smith Comparison of RNase A, chemical cleavage, and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid β-glucosidase gene Nucleic Acids Res 17 1989 7707 7722
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 7707-7722
-
-
Theophilus, B DM1
Latham, T2
Grabowski, GA3
Smith, FI4
-
49
-
-
0029818687
-
Type I Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese
-
O Amaral E Pinto M Fortuna L Lacerda M CS Miranda Type I Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese Hum Mutat 8 1996 280 281
-
(1996)
Hum Mutat
, vol.8
, pp. 280-281
-
-
Amaral, O1
Pinto, E2
Fortuna, M3
Lacerda, L4
Miranda, M CS5
-
50
-
-
0029917235
-
Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease
-
P JV Seeman U Finckh J Hoeppner Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease Neurology 46 1996 1102 1107
-
(1996)
Neurology
, vol.46
, pp. 1102-1107
-
-
Seeman, P JV1
Finckh, U2
Hoeppner, J3
-
51
-
-
0024637222
-
Characterization of mutations in Gaucher patients by cDNA cloning
-
M Wigderson N Firon Z Horowitz Characterization of mutations in Gaucher patients by cDNA cloning Am J Hum Genet 44 1989 365 377
-
(1989)
Am J Hum Genet
, vol.44
, pp. 365-377
-
-
Wigderson, M1
Firon, N2
Horowitz, Z3
-
52
-
-
0028280918
-
A new missense mutation in glucocerebrosidase exon 9 of a non- Jewish Caucasian type 1 Gaucher disease patient
-
F YM Choy C Wei DA Applegarth S-L Yong A new missense mutation in glucocerebrosidase exon 9 of a non- Jewish Caucasian type 1 Gaucher disease patient Hum Mol Genet 3 1994 821 823
-
(1994)
Hum Mol Genet
, vol.3
, pp. 821-823
-
-
Choy, F YM1
Wei, C2
Applegarth, DA3
Yong, S-L4
-
53
-
-
0028142240
-
Y418C: A novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site
-
R Tuteja N Tuteja F Lilliu Y418C: A novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site Hum Genet 94 1994 314 315
-
(1994)
Hum Genet
, vol.94
, pp. 314-315
-
-
Tuteja, R1
Tuteja, N2
Lilliu, F3
-
54
-
-
0028352317
-
New Gaucher disease mutations in exon 10: A novel L444R mutation produces a newNci
-
A Uchiyama S Tomatsu N Kondo New Gaucher disease mutations in exon 10: A novel L444R mutation produces a new Nci Hum Mol Genet 3 1994 1183 1184
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1183-1184
-
-
Uchiyama, A1
Tomatsu, S2
Kondo, N3
-
55
-
-
0023131172
-
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease
-
S Tsuji PV Choudary BM Martin A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease N Engl J Med 316 1987 570 575
-
(1987)
N Engl J Med
, vol.316
, pp. 570-575
-
-
Tsuji, S1
Choudary, PV2
Martin, BM3
-
57
-
-
0027219497
-
A novel splicing abnormality in a Japanese patient with Gaucher's disease
-
T Ohshima M Sasaki T Matsuzaka N Sakuragawa A novel splicing abnormality in a Japanese patient with Gaucher's disease Hum Mol Genet 2 1993 1497 1498
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1497-1498
-
-
Ohshima, T1
Sasaki, M2
Matsuzaka, T3
Sakuragawa, N4
-
58
-
-
0028053957
-
Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion
-
E Beutler T Gelbart Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion Hum Mutat 4 1995 212 216
-
(1995)
Hum Mutat
, vol.4
, pp. 212-216
-
-
Beutler, E1
Gelbart, T2
-
60
-
-
0025101234
-
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis and diagnosis of this disorder
-
A Zimran J Sorge E Gross M Kubitz C West E Beutler A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis and diagnosis of this disorder J Clin Invest 85 1990 219 222
-
(1990)
J Clin Invest
, vol.85
, pp. 219-222
-
-
Zimran, A1
Sorge, J2
Gross, E3
Kubitz, M4
West, C5
Beutler, E6
|