-
1
-
-
0029126565
-
Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: Detection of 90% of molecular defects and identification of three novel mutations
-
Brancolini, V., L. Cremonesi, E. Belloni, E. Pappalardo, R. Bordoni, M. Seia, S. Russo, R. Padoan, A. Giunta and M. Ferrari. 1995. Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations. Hum. Genet. 96:312-318.
-
(1995)
Hum. Genet.
, vol.96
, pp. 312-318
-
-
Brancolini, V.1
Cremonesi, L.2
Belloni, E.3
Pappalardo, E.4
Bordoni, R.5
Seia, M.6
Russo, S.7
Padoan, R.8
Giunta, A.9
Ferrari, M.10
-
2
-
-
0028059688
-
A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin
-
Cheadle, J.P., E. Belloni, M. Ferrari, L. Millar-Jones and L. Millar-Jones. 1994. A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin. Hum. Mol. Genet. 3:1431-1432.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1431-1432
-
-
Cheadle, J.P.1
Belloni, E.2
Ferrari, M.3
Millar-Jones, L.4
Millar-Jones, L.5
-
3
-
-
0026773625
-
A new mutation (1078delT) in exon seven of the CFTR gene in Southern French adult with cystic fibrosis
-
Claustres, M., B. Gerrard, M.B. White, M. Desgeorges, P. Kjiellberg, B. Rollin and M. Dean. 1992. A new mutation (1078delT) in exon seven of the CFTR gene in Southern French adult with cystic fibrosis. Genomics 13:907-908.
-
(1992)
Genomics
, vol.13
, pp. 907-908
-
-
Claustres, M.1
Gerrard, B.2
White, M.B.3
Desgeorges, M.4
Kjiellberg, P.5
Rollin, B.6
Dean, M.7
-
4
-
-
0027018275
-
Four new mutations in the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes
-
Cremonesi, L., M. Ferrari, E. Belloni, C. Magnani, M. Seia, P. Ronchetto, M. Rady, M.P. Russo, G. Romeo and M. Devoto. 1992. Four new mutations in the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes. Hum. Mutation 1:314-319.
-
(1992)
Hum. Mutation
, vol.1
, pp. 314-319
-
-
Cremonesi, L.1
Ferrari, M.2
Belloni, E.3
Magnani, C.4
Seia, M.5
Ronchetto, P.6
Rady, M.7
Russo, M.P.8
Romeo, G.9
Devoto, M.10
-
5
-
-
0025310336
-
A cluster of cystic fibrosis mutations in the first nucleotide binding folds of the cystic fibrosis conductance regulator protein
-
Cutting, G.R., L.M. Kasch, B.J. Rosenstein, J. Zielenski, L.-C. Tsui, S. E. Antonarakis and H.H. Kazazian Jr. 1990. A cluster of cystic fibrosis mutations in the first nucleotide binding folds of the cystic fibrosis conductance regulator protein. Nature 346:366-369.
-
(1990)
Nature
, vol.346
, pp. 366-369
-
-
Cutting, G.R.1
Kasch, L.M.2
Rosenstein, B.J.3
Zielenski, J.4
Tsui, L.-C.5
Antonarakis, S.E.6
Kazazian Jr., H.H.7
-
6
-
-
0026629124
-
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occurred in common among Caucasians
-
Cutting, G.R., S.M. Curristan, E. Nash, B.J. Rosenstein, I. Lerer, D. Abeliovich, A. Hill, and C. Graham. 1992. Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occurred in common among Caucasians. Am. J. Hum. Genet. 50:1185-1194.
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 1185-1194
-
-
Cutting, G.R.1
Curristan, S.M.2
Nash, E.3
Rosenstein, B.J.4
Lerer, I.5
Abeliovich, D.6
Hill, A.7
Graham, C.8
-
7
-
-
0025312731
-
Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. 1990
-
Dean, M., M. White, J. Amos, B. Gerrard, C. Steward, K.-T. Khaw and M. Leppert. 1990. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. 1990. Cell 61:863-870.
-
(1990)
Cell
, vol.61
, pp. 863-870
-
-
Dean, M.1
White, M.2
Amos, J.3
Gerrard, B.4
Steward, C.5
Khaw, K.-T.6
Leppert, M.7
-
8
-
-
0025922232
-
Screeening for non deltaF508 mutations in 5 exons of the CFTR gene in Italy
-
Devoto, M., P. Ronchetto, P. Fanen, JJ. Telleria-Orriols, G. Romeo, M. Goossens, M. Ferrari, C. Magnani, M. Seia and L. Cremonesi. 1991. Screeening for non deltaF508 mutations in 5 exons of the CFTR gene in Italy. Am. J. Hum. Genet. 48: 1127-1132.
-
(1991)
Am. J. Hum. Genet.
, vol.48
, pp. 1127-1132
-
-
Devoto, M.1
Ronchetto, P.2
Fanen, P.3
Telleria-Orriols, J.J.4
Romeo, G.5
Goossens, M.6
Ferrari, M.7
Magnani, C.8
Seia, M.9
Cremonesi, L.10
-
9
-
-
0001430251
-
Analysis of point mutations by denaturing gradient gel electrophoresis
-
Fisher, S.G. and L. Lerman. 1982. Analysis of point mutations by denaturing gradient gel electrophoresis. Proc. Natl. Acad. Sci. USA 80: 1579-1583.
-
(1982)
Proc. Natl. Acad. Sci. USA
, vol.80
, pp. 1579-1583
-
-
Fisher, S.G.1
Lerman, L.2
-
10
-
-
0025762972
-
The search for Southern European cystic fibrosis mutations: Identification of two new mutations, four variants, and intron sequences
-
Gasparini, P., V. Nunes, A. Savoia, M. Dognini, N. Morral, A. Gaona, A. Bonizzato, M. Chillon, F. Sangiuolo, G. Novelli, B. Dallapiccola, P.F. Pignatti and X. Estivill. 1991. The search for Southern European cystic fibrosis mutations: identification of two new mutations, four variants, and intron sequences. Genomics 10:193-200.
-
(1991)
Genomics
, vol.10
, pp. 193-200
-
-
Gasparini, P.1
Nunes, V.2
Savoia, A.3
Dognini, M.4
Morral, N.5
Gaona, A.6
Bonizzato, A.7
Chillon, M.8
Sangiuolo, F.9
Novelli, G.10
Dallapiccola, B.11
Pignatti, P.F.12
Estivill, X.13
-
11
-
-
0029818082
-
Temperature-programmed capillary electrophoresis for detection of DNA point mutations
-
Gelfi, C., L. Cremonesi, M. Ferrari and P.G. Righetti. 1996. Temperature-programmed capillary electrophoresis for detection of DNA point mutations. BioTechniques 21:926-932.
-
(1996)
BioTechniques
, vol.21
, pp. 926-932
-
-
Gelfi, C.1
Cremonesi, L.2
Ferrari, M.3
Righetti, P.G.4
-
12
-
-
0345543951
-
Electrophoresis in gels of graded porosity and two-dimensional techniques
-
P.G. Righetti, C.J. Van Oss and J.W. Vanderhoff (Eds.), Elsevier, Amsterdam
-
Gianazza, E. and P.G. Righetti. 1979. Electrophoresis in gels of graded porosity and two-dimensional techniques, p. 293-311. In P.G. Righetti, C.J. Van Oss and J.W. Vanderhoff (Eds.), Electrokinetic Separation Methods. Elsevier, Amsterdam.
-
(1979)
Electrokinetic Separation Methods
, pp. 293-311
-
-
Gianazza, E.1
Righetti, P.G.2
-
13
-
-
0027435938
-
The rapid detection of unknown mutations in nucleic acids
-
Grompe, M. 1993. The rapid detection of unknown mutations in nucleic acids. Nature Genet. 5:111-117.
-
(1993)
Nature Genet.
, vol.5
, pp. 111-117
-
-
Grompe, M.1
-
14
-
-
0025009740
-
A 3′ splice site consensus sequence mutation in the cystic fibrosis gene
-
Guillermit, H., P. Fanen and C. Ferec. 1990. A 3′ splice site consensus sequence mutation in the cystic fibrosis gene. Hum. Genet. 85:450-453.
-
(1990)
Hum. Genet.
, vol.85
, pp. 450-453
-
-
Guillermit, H.1
Fanen, P.2
Ferec, C.3
-
15
-
-
0027018274
-
A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator
-
Kalin, A., T. Dork and B. Tummler. 1992. A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator. Hum. Mutation 1:204-210.
-
(1992)
Hum. Mutation
, vol.1
, pp. 204-210
-
-
Kalin, A.1
Dork, T.2
Tummler, B.3
-
16
-
-
0025133518
-
Identification of mutations in regions corresponding to the 2 putative nucleotide ATP9-binding folds of the cystic fibrosis gene. 1990
-
Kerem, B., J. Zielenski, D. Markiewicz, D. Bozon, E. Gazit, J. Jahaf, D. Kennedy, J.R. Riodran, F.S. Collins, J.R. Rommens and L.-C. Tsui. 1990. Identification of mutations in regions corresponding to the 2 putative nucleotide (ATP9-binding folds of the cystic fibrosis gene. 1990. Proc. Natl. Acad. Sci. USA 87:8447-8451.
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 8447-8451
-
-
Kerem, B.1
Zielenski, J.2
Markiewicz, D.3
Bozon, D.4
Gazit, E.5
Jahaf, J.6
Kennedy, D.7
Riodran, J.R.8
Collins, F.S.9
Rommens, J.R.10
Tsui, L.-C.11
-
17
-
-
0029010908
-
Analysis of thyroid stimulating hormone-receptor mutations by temperature gradient gel electrophoresis
-
Koch, M., R. Wahl and F.J. Seif. 1995. Analysis of thyroid stimulating hormone-receptor mutations by temperature gradient gel electrophoresis. Electrophoresis 16:742-743.
-
(1995)
Electrophoresis
, vol.16
, pp. 742-743
-
-
Koch, M.1
Wahl, R.2
Seif, F.J.3
-
18
-
-
0029013433
-
Temperature gradient gel electrophoresis for analysis of a PCR-based diagnostic clonality assay in the early stages of cutaneous T-cell lymphomas
-
Menke, M.A.O.H., M. Tiemann, D. Vogelsang, C. Boie and R. Parwaresch. 1995. Temperature gradient gel electrophoresis for analysis of a PCR-based diagnostic clonality assay in the early stages of cutaneous T-cell lymphomas. Electrophoresis 16:733-738.
-
(1995)
Electrophoresis
, vol.16
, pp. 733-738
-
-
Menke, M.A.O.H.1
Tiemann, M.2
Vogelsang, D.3
Boie, C.4
Parwaresch, R.5
-
19
-
-
0023476285
-
Detection and localisation of single base changes by denaturing gradient gel electrophoresis
-
Myers, R.M., T, Maniatis and L.S. Lerman. 1987. Detection and localisation of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol. 155:482-501.
-
(1987)
Methods Enzymol.
, vol.155
, pp. 482-501
-
-
Myers, R.M.1
Maniatis, T.2
Lerman, L.S.3
-
20
-
-
0001123611
-
Temperature gradient gel electrophoresis: A method for the analysis of conformational transitions and mutations in nucleic acids and proteins
-
Riesner, D., K. Henco and G. Steger. 1991. Temperature gradient gel electrophoresis: a method for the analysis of conformational transitions and mutations in nucleic acids and proteins. Adv. Electrophoresis 4:169-250.
-
(1991)
Adv. Electrophoresis
, vol.4
, pp. 169-250
-
-
Riesner, D.1
Henco, K.2
Steger, G.3
-
22
-
-
0008766486
-
One dimensional PAA-gel electrophoretic techniques to separate functional and denatured proteins
-
M.J. Dunn (Ed.), Wright, Bristol
-
Rothe, G.M. and W.D. Maurer. 1986. One dimensional PAA-gel electrophoretic techniques to separate functional and denatured proteins, p. 37-140. In M.J. Dunn (Ed.), Gel Electrophoresis of Proteins. Wright, Bristol.
-
(1986)
Gel Electrophoresis of Proteins
, pp. 37-140
-
-
Rothe, G.M.1
Maurer, W.D.2
-
23
-
-
0027330222
-
Two novel mutations in the transmembrane domain of the CFTR gene in subjects of Sardinian descent
-
Saba, L., G.B. Leoni, A. Meloni, V. Faà, A. Cao and M.C. Rosatelli. 1993. Two novel mutations in the transmembrane domain of the CFTR gene in subjects of Sardinian descent. Hum. Molec. Genet. 2:1739-1740.
-
(1993)
Hum. Molec. Genet.
, vol.2
, pp. 1739-1740
-
-
Saba, L.1
Leoni, G.B.2
Meloni, A.3
Faà, V.4
Cao, A.5
Rosatelli, M.C.6
-
24
-
-
0029053926
-
Temperature gradient gel electrophoresis as a screening tool for polymorphisms in multigene families
-
Schlötterer, C. 1995. Temperature gradient gel electrophoresis as a screening tool for polymorphisms in multigene families. Electrophoresis 16:722-728.
-
(1995)
Electrophoresis
, vol.16
, pp. 722-728
-
-
Schlötterer, C.1
-
25
-
-
0029016087
-
Temperature gradient gel electrophoresis for analysis of clonal evolution in non-Hodgkin's lymphoma of the thyroid
-
Tiemann, M., M.A.O.H. Menke, R. Asbeck, H.H. Wacker and R. Parwaresch. 1995. Temperature gradient gel electrophoresis for analysis of clonal evolution in non-Hodgkin's lymphoma of the thyroid. Electrophoresis 16:729-732.
-
(1995)
Electrophoresis
, vol.16
, pp. 729-732
-
-
Tiemann, M.1
Menke, M.A.O.H.2
Asbeck, R.3
Wacker, H.H.4
Parwaresch, R.5
|