-
1
-
-
2642680855
-
-
Alpha 1-antitrypsin deficiency: memorandum from a WHO meeting. Bull World Health Org. 75:1997;397-415.
-
(1997)
Bull World Health Org
, vol.75
, pp. 397-415
-
-
-
2
-
-
0030949205
-
Molecular basis, clinical consequences and diagnosis of alpha-1 antitrypsin deficiency
-
[see comments]
-
Norman MR, Mowat AP, Hutchison DC. Molecular basis, clinical consequences and diagnosis of alpha-1 antitrypsin deficiency. [see comments] Ann Clin Biochem. 34:1997;230-246.
-
(1997)
Ann Clin Biochem
, vol.34
, pp. 230-246
-
-
Norman, M.R.1
Mowat, A.P.2
Hutchison, D.C.3
-
3
-
-
0027414129
-
Physical mapping of four serpin genes: Alpha 1-antitrypsin, alpha 1-antichymotrypsin, corticosteroid-binding globulin, and protein C inhibitor, within a 280-kb region on chromosome 14q32.1
-
Billingsley GD, Walter MA, Hammond GL, Cox DW. Physical mapping of four serpin genes: alpha 1-antitrypsin, alpha 1-antichymotrypsin, corticosteroid-binding globulin, and protein C inhibitor, within a 280-kb region on chromosome 14q32.1. Am J Hum Genet. 52:1993;343-353.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 343-353
-
-
Billingsley, G.D.1
Walter, M.A.2
Hammond, G.L.3
Cox, D.W.4
-
4
-
-
0026743252
-
Genetic variants of alpha-1-antitrypsin (AAT)
-
Fabbretti G, Sergi C, Consales G, Faa G, Brisigotti M, Romeo G, et al. Genetic variants of alpha-1-antitrypsin (AAT). Liver. 12:1992;296-301.
-
(1992)
Liver
, vol.12
, pp. 296-301
-
-
Fabbretti, G.1
Sergi, C.2
Consales, G.3
Faa, G.4
Brisigotti, M.5
Romeo, G.6
-
5
-
-
0026035501
-
The cellular basis for liver injury in alpha 1-antitrypsin deficiency
-
Perlmutter DH. The cellular basis for liver injury in alpha 1-antitrypsin deficiency. Hepatology. 13:1991;172-185.
-
(1991)
Hepatology
, vol.13
, pp. 172-185
-
-
Perlmutter, D.H.1
-
6
-
-
0021194415
-
Alpha-1-antitrypsin (AAT) and its stimulation in the liver of PiMZ phenotype individuals. A "recruitment-secretory block" ("R-SB") phenomenon
-
Callea F, Fevery J, Massi G, Lievens C, de Groote J, Desmet VJ. Alpha-1-antitrypsin (AAT) and its stimulation in the liver of PiMZ phenotype individuals. A "recruitment-secretory block" ("R-SB") phenomenon. Liver. 4:1984;325-337.
-
(1984)
Liver
, vol.4
, pp. 325-337
-
-
Callea, F.1
Fevery, J.2
Massi, G.3
Lievens, C.4
De Groote, J.5
Desmet, V.J.6
-
7
-
-
0023795389
-
Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms
-
Brantly ML, Paul LD, Miller BH, Falk RT, Wu M, Crystal RG. Clinical features and history of the destructive lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms. Am Rev Respir Dis. 138:1988;327-336.
-
(1988)
Am Rev Respir Dis
, vol.138
, pp. 327-336
-
-
Brantly, M.L.1
Paul, L.D.2
Miller, B.H.3
Falk, R.T.4
Wu, M.5
Crystal, R.G.6
-
8
-
-
0014530551
-
Cirrhosis associated with alpha-1-antitrypsin deficiency: A previously unrecognized inherited disorder
-
Sharp HL, Bridges RA, Krivit W, Freier EF. Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. J Lab Clin Med. 73:1969;934-939.
-
(1969)
J Lab Clin Med
, vol.73
, pp. 934-939
-
-
Sharp, H.L.1
Bridges, R.A.2
Krivit, W.3
Freier, E.F.4
-
9
-
-
0015519114
-
Liver disease in adults with alpha-1-antitrypsin deficiency
-
Berg NO, Eriksson S. Liver disease in adults with alpha-1-antitrypsin deficiency. N Engl J Med. 287:1972;1264-1267.
-
(1972)
N Engl J Med
, vol.287
, pp. 1264-1267
-
-
Berg, N.O.1
Eriksson, S.2
-
10
-
-
0026544701
-
Lack of increase in heterozygous alpha 1-antitrypsin deficiency phenotypes among patients with hepatocellular and bile duct carcinoma
-
Rabinovitz M, Gavaler JS, Kelly RH, Prieto M, Van Thiel DH. Lack of increase in heterozygous alpha 1-antitrypsin deficiency phenotypes among patients with hepatocellular and bile duct carcinoma. Hepatology. 15:1992;407-410.
-
(1992)
Hepatology
, vol.15
, pp. 407-410
-
-
Rabinovitz, M.1
Gavaler, J.S.2
Kelly, R.H.3
Prieto, M.4
Van Thiel, D.H.5
-
11
-
-
0019449013
-
Heterozygous MZ alpha 1-antitrypsin deficiency in adults with chronic active hepatitis and cryptogenic cirrhosis
-
Hodges JR, Millward-Sadler GH, Barbatis C, Wright R. Heterozygous MZ alpha 1-antitrypsin deficiency in adults with chronic active hepatitis and cryptogenic cirrhosis. N Engl J Med. 304:1981;557-560.
-
(1981)
N Engl J Med
, vol.304
, pp. 557-560
-
-
Hodges, J.R.1
Millward-Sadler, G.H.2
Barbatis, C.3
Wright, R.4
-
12
-
-
0022637178
-
Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency
-
Eriksson S, Carlson J, Velez R. Risk of cirrhosis and primary liver cancer in alpha 1-antitrypsin deficiency. N Engl J Med. 314:1986;736-739.
-
(1986)
N Engl J Med
, vol.314
, pp. 736-739
-
-
Eriksson, S.1
Carlson, J.2
Velez, R.3
-
13
-
-
0022461993
-
Detection of Pi Z phenotype individuals by alpha-1-antitrypsin (AAT) immunohistochemistry in paraffin-embedded liver tissue specimens
-
Callea F, Fevery J, De Groote J, Desmet VJ. Detection of Pi Z phenotype individuals by alpha-1-antitrypsin (AAT) immunohistochemistry in paraffin-embedded liver tissue specimens. J Hepatol. 2:1986;389-401.
-
(1986)
J Hepatol
, vol.2
, pp. 389-401
-
-
Callea, F.1
Fevery, J.2
De Groote, J.3
Desmet, V.J.4
-
14
-
-
0031842199
-
Liver carcinoma in PiZ alpha-1-antitrypsin deficiency
-
Zhou H, Fischer HP. Liver carcinoma in PiZ alpha-1-antitrypsin deficiency. Am J Surg Pathol. 22:1998;742-748.
-
(1998)
Am J Surg Pathol
, vol.22
, pp. 742-748
-
-
Zhou, H.1
Fischer, H.P.2
-
15
-
-
0031309554
-
Fixed archival tissue. Purify DNA and primers for good PCR yield!
-
Weirich G, Hornauer MA, Bruning T, Hofler H, Brauch H. Fixed archival tissue. Purify DNA and primers for good PCR yield! Mol Biotechnol. 8:1997;299-301.
-
(1997)
Mol Biotechnol
, vol.8
, pp. 299-301
-
-
Weirich, G.1
Hornauer, M.A.2
Bruning, T.3
Hofler, H.4
Brauch, H.5
-
16
-
-
0025835296
-
Fast and sensitive silver staining of DNA in polyacrylamide gels [published erratum appears in Anal Biochem 1991 Oct; 198(1): 217]
-
Bassam BJ, Caetano-Anolles G, Gresshoff PM. Fast and sensitive silver staining of DNA in polyacrylamide gels [published erratum appears in Anal Biochem 1991 Oct; 198(1): 217]. Anal Biochem. 196:1991;80-83.
-
(1991)
Anal Biochem
, vol.196
, pp. 80-83
-
-
Bassam, B.J.1
Caetano-Anolles, G.2
Gresshoff, P.M.3
-
17
-
-
0018199099
-
Alpha1-antitrypsin deficiency
-
(second of two parts)
-
Morse JO. Alpha1-antitrypsin deficiency. (second of two parts) N Engl J Med. 299:1978;1099-1105.
-
(1978)
N Engl J Med
, vol.299
, pp. 1099-1105
-
-
Morse, J.O.1
-
18
-
-
0018199101
-
Alpha-1-antitrypsin deficiency
-
(first of two parts)
-
Morse JO. Alpha-1-antitrypsin deficiency. (first of two parts) N Engl J Med. 299:1978;1045-1048.
-
(1978)
N Engl J Med
, vol.299
, pp. 1045-1048
-
-
Morse, J.O.1
-
19
-
-
0023726179
-
Diagnosis of alpha 1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products
-
Newton CR, Kalsheker N, Graham A, Powell S, Gammack A, Riley J, et al. Diagnosis of alpha 1-antitrypsin deficiency by enzymatic amplification of human genomic DNA and direct sequencing of polymerase chain reaction products. Nucleic Acids Res. 16:1988;8233-8243.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 8233-8243
-
-
Newton, C.R.1
Kalsheker, N.2
Graham, A.3
Powell, S.4
Gammack, A.5
Riley, J.6
-
20
-
-
0025825877
-
Identification of PiZ gene products in liver tissue by a monoclonal antibody specific for the Z mutant of alpha 1-antitrypsin
-
Callea F, Brisigotti M, Faa G, Lucini L, Eriksson S. Identification of PiZ gene products in liver tissue by a monoclonal antibody specific for the Z mutant of alpha 1-antitrypsin. J Hepatol. 12:1991;372-376.
-
(1991)
J Hepatol
, vol.12
, pp. 372-376
-
-
Callea, F.1
Brisigotti, M.2
Faa, G.3
Lucini, L.4
Eriksson, S.5
-
21
-
-
0026001093
-
Rapid detection of alpha-1-antitrypsin deficiency by analysis of a PCR-induced TaqI restriction site
-
Dry PJ. Rapid detection of alpha-1-antitrypsin deficiency by analysis of a PCR-induced TaqI restriction site. Hum Genet. 87:1991;742-744.
-
(1991)
Hum Genet
, vol.87
, pp. 742-744
-
-
Dry, P.J.1
-
22
-
-
0026520129
-
Alpha 1-antitrypsin alleles in patients with pulmonary emphysema, detected by DNA amplification (PCR) and oligonucleotide probes
-
Bruun-Petersen K, Bruun-Petersen G, Dahl R, Larsen B, Kolvraa S, Koch J, et al. Alpha 1-antitrypsin alleles in patients with pulmonary emphysema, detected by DNA amplification (PCR) and oligonucleotide probes. Eur Respir J. 5:1992;531-537.
-
(1992)
Eur Respir J
, vol.5
, pp. 531-537
-
-
Bruun-Petersen, K.1
Bruun-Petersen, G.2
Dahl, R.3
Larsen, B.4
Kolvraa, S.5
Koch, J.6
-
23
-
-
0031044749
-
Single-strand conformation polymorphism analysis with high throughput modifications, and its use in mutation detection in familial hyper-cholesterolemia. International Federation of Clinical Chemistry Scientific Division: Committee on Molecular Biology Techniques
-
Humphries SE, Gudnason V, Whittall R, Day IN. Single-strand conformation polymorphism analysis with high throughput modifications, and its use in mutation detection in familial hyper-cholesterolemia. International Federation of Clinical Chemistry Scientific Division: Committee on Molecular Biology Techniques. Clin Chem. 43:1997;427-435.
-
(1997)
Clin Chem
, vol.43
, pp. 427-435
-
-
Humphries, S.E.1
Gudnason, V.2
Whittall, R.3
Day, I.N.4
-
24
-
-
0030900929
-
Renal cell carcinomas in trichloroethene (TRI) exposed persons are associated with somatic mutations in the von Hippel-Lindau (VHL) tumour suppressor gene
-
Bruning T, Weirich G, Hornauer MA, Hofler H, Brauch H. Renal cell carcinomas in trichloroethene (TRI) exposed persons are associated with somatic mutations in the von Hippel-Lindau (VHL) tumour suppressor gene. Arch Toxicol. 71:1997;332-335.
-
(1997)
Arch Toxicol
, vol.71
, pp. 332-335
-
-
Bruning, T.1
Weirich, G.2
Hornauer, M.A.3
Hofler, H.4
Brauch, H.5
-
25
-
-
0026029136
-
Effect of fixation on the amplification of nucleic acids from paraffin- embedded material by the polymerase chain reaction
-
Ben-Ezra J, Johnson DA, Rossi J, Cook N, Wu A. Effect of fixation on the amplification of nucleic acids from paraffin- embedded material by the polymerase chain reaction. J Histochem Cytochem. 39:1991;351-354.
-
(1991)
J Histochem Cytochem
, vol.39
, pp. 351-354
-
-
Ben-Ezra, J.1
Johnson, D.A.2
Rossi, J.3
Cook, N.4
Wu, A.5
|