-
1
-
-
0026699908
-
Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population
-
Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR. 1992. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet 51:951-956.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 951-956
-
-
Abeliovich, D.1
Lavon, I.P.2
Lerer, I.3
Cohen, T.4
Springer, C.5
Avital, A.6
Cutting, G.R.7
-
2
-
-
0030478338
-
Cystic fibrosis heterozygote screening in the orthodox community of Ashkenazi Jews: The Dor Yesharim approach and heterozygote frequency
-
Abeliovich D, Quint A, Weinberg N, Verchezon G, Lerer I, Ekstein J, Rubinstein E. 1996. Cystic fibrosis heterozygote screening in the orthodox community of Ashkenazi Jews: The Dor Yesharim approach and heterozygote frequency. Eur J Hum Genet 4:338-341.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 338-341
-
-
Abeliovich, D.1
Quint, A.2
Weinberg, N.3
Verchezon, G.4
Lerer, I.5
Ekstein, J.6
Rubinstein, E.7
-
3
-
-
0035083967
-
Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test
-
Castellani C, Benetazzo MG, Tamanini A, Begnini A, Mastella G, Pigantti P. 2001a. Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test. J Med Genet 38:202-205.
-
(2001)
J Med Genet
, vol.38
, pp. 202-205
-
-
Castellani, C.1
Benetazzo, M.G.2
Tamanini, A.3
Begnini, A.4
Mastella, G.5
Pigantti, P.6
-
4
-
-
18044403849
-
Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis
-
Castellani C, Gomez Lira M, Frulloni L, Delmarco A, Marzari M, Bonizzato A, Cavallini G, Pignatti P, Mastella G. 2001b. Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis. Hum Mutat 18:166.
-
(2001)
Hum Mutat
, vol.18
, pp. 166
-
-
Castellani, C.1
Gomez Lira, M.2
Frulloni, L.3
Delmarco, A.4
Marzari, M.5
Bonizzato, A.6
Cavallini, G.7
Pignatti, P.8
Mastella, G.9
-
5
-
-
0027031899
-
Screening for cystic fibrosis mutations in southern France: Identification of a frameshift mutation and two missense variations
-
Claustres M, Gerrard B, Kjellberg P, Desgeorges M, Demaille J, Dean M. 1992. Screening for cystic fibrosis mutations in southern France: Identification of a frameshift mutation and two missense variations. Hum Mutat 1:310-313.
-
(1992)
Hum Mutat
, vol.1
, pp. 310-313
-
-
Claustres, M.1
Gerrard, B.2
Kjellberg, P.3
Desgeorges, M.4
Demaille, J.5
Dean, M.6
-
6
-
-
1642476810
-
Consanguinity, intracommunity and intercommunity marriages in a population sample of Israeli Jews
-
Cohen T, Vardi-Saliternik R, Friedlander Y. 2004. Consanguinity, intracommunity and intercommunity marriages in a population sample of Israeli Jews. Ann Hum Biol 31:38-48.
-
(2004)
Ann Hum Biol
, vol.31
, pp. 38-48
-
-
Cohen, T.1
Vardi-Saliternik, R.2
Friedlander, Y.3
-
7
-
-
1842339924
-
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
-
Dork T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Bohm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuharmann M. 1997. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet 100:365-377.
-
(1997)
Hum Genet
, vol.100
, pp. 365-377
-
-
Dork, T.1
Dworniczak, B.2
Aulehla-Scholz, C.3
Wieczorek, D.4
Bohm, I.5
Mayerova, A.6
Seydewitz, H.H.7
Nieschlag, E.8
Meschede, D.9
Horst, J.10
Pander, H.J.11
Sperling, H.12
Ratjen, F.13
Passarge, E.14
Schmidtke, J.15
Stuharmann, M.16
-
8
-
-
0031985207
-
Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G ≥ A in four French patients
-
Feldmann D, Sardet A, Cougoureux E, Plouvier E, Fontaine JL, Tournier G, Aymard P. 1998. Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G ≥ A in four French patients. Hum Mutat Suppl 1:S78-S80.
-
(1998)
Hum Mutat Suppl
, vol.1
-
-
Feldmann, D.1
Sardet, A.2
Cougoureux, E.3
Plouvier, E.4
Fontaine, J.L.5
Tournier, G.6
Aymard, P.7
-
9
-
-
0034012303
-
Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations
-
Kambouris M, Banjar H, Moggari I, Nazer H, Al-Hamed M, Meyer BF. 2000. Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations. Eur J Pediatr 159:303-309.
-
(2000)
Eur J Pediatr
, vol.159
, pp. 303-309
-
-
Kambouris, M.1
Banjar, H.2
Moggari, I.3
Nazer, H.4
Al-Hamed, M.5
Meyer, B.F.6
-
10
-
-
0029019611
-
Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel
-
Kerem E, Kalman YM, Yahav Y, Shoshani T, Abeliovich D, Szeinberg A, Rivlin J, Blau H, Tal A, Ben-Tur L, Springer H, Augarten A, Godfrey S, Lerer I, Branski D, Friedman M, Kerem B. 1995. Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel. Hum Genet 96:193-197.
-
(1995)
Hum Genet
, vol.96
, pp. 193-197
-
-
Kerem, E.1
Kalman, Y.M.2
Yahav, Y.3
Shoshani, T.4
Abeliovich, D.5
Szeinberg, A.6
Rivlin, J.7
Blau, H.8
Tal, A.9
Ben-Tur, L.10
Springer, H.11
Augarten, A.12
Godfrey, S.13
Lerer, I.14
Branski, D.15
Friedman, M.16
Kerem, B.17
-
11
-
-
0031292686
-
Cystic fibrosis in Jews: Frequency and mutation distribution
-
Kerem B, Chiba-Falek O, Kerem E. 1997. Cystic fibrosis in Jews: Frequency and mutation distribution. Genet Test 1:35-39.
-
(1997)
Genet Test
, vol.1
, pp. 35-39
-
-
Kerem, B.1
Chiba-Falek, O.2
Kerem, E.3
-
12
-
-
0033426331
-
Cystic fibrosis mutations in Israeli Arab patients
-
Laufer-Cahana A, Lerer I, Sagi M, Rachmilewitz-Minei T, Zamir C, Rivlin JR, Abeliovich D, 1999. Cystic fibrosis mutations in Israeli Arab patients. Hum Muta;t 14:543.
-
(1999)
Hum Muta;t
, vol.14
, pp. 543
-
-
Laufer-Cahana, A.1
Lerer, I.2
Sagi, M.3
Rachmilewitz-Minei, T.4
Zamir, C.5
Rivlin, J.R.6
Abeliovich, D.7
-
13
-
-
0026560940
-
Cystic fibrosis mutations delta F508 and G542X in Jewish patients
-
Lerer I, Sagi M, Cutting GR, Abeliovich D. 1992. Cystic fibrosis mutations delta F508 and G542X in Jewish patients. J Med Genet 29:131-133.
-
(1992)
J Med Genet
, vol.29
, pp. 131-133
-
-
Lerer, I.1
Sagi, M.2
Cutting, G.R.3
Abeliovich, D.4
-
14
-
-
0035055817
-
Prevalence of cystic fibrosis mutations in Israeli Jews
-
Orgad S, Neumann S, Loewenthal R, Netanelov-Shapira I, Gazit E. 2001. Prevalence of cystic fibrosis mutations in Israeli Jews. Genet Test 5: 47-52.
-
(2001)
Genet Test
, vol.5
, pp. 47-52
-
-
Orgad, S.1
Neumann, S.2
Loewenthal, R.3
Netanelov-Shapira, I.4
Gazit, E.5
-
15
-
-
0027479447
-
A new mutation in the CFTR gene, composed of two adjacent DNA alterations, is a common cause of cystic fibrosis among Georgian Jews
-
Shoshani T, Berkun Y, Yahav Y, Augarten A, Bashan N, Rivlin Y, Gazit E, Sereth H, Kerem E, Kerem BS. 1993. A new mutation in the CFTR gene, composed of two adjacent DNA alterations, is a common cause of cystic fibrosis among Georgian Jews. Genomics 15:236-237.
-
(1993)
Genomics
, vol.15
, pp. 236-237
-
-
Shoshani, T.1
Berkun, Y.2
Yahav, Y.3
Augarten, A.4
Bashan, N.5
Rivlin, Y.6
Gazit, E.7
Sereth, H.8
Kerem, E.9
Kerem, B.S.10
-
16
-
-
0024463137
-
Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans?
-
Voss R, Ben-Simon E, Avital A, Godfrey S, Zlotogora J, Dagan J, Tikochinski Y, Hillel J. 1989. Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans? Am J Hum Genet 45:373-380.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 373-380
-
-
Voss, R.1
Ben-Simon, E.2
Avital, A.3
Godfrey, S.4
Zlotogora, J.5
Dagan, J.6
Tikochinski, Y.7
Hillel, J.8
-
17
-
-
0037325860
-
Cystic fibrosis mutation I1234V in a Qatari lady
-
Wahab AA. 2003. Cystic fibrosis mutation I1234V in a Qatari lady. J Trop Pediatr 49:54-55.
-
(2003)
J Trop Pediatr
, vol.49
, pp. 54-55
-
-
Wahab, A.A.1
|