-
1
-
-
0026562867
-
Congenital bilateral absence of the vas deferens: A primarily genital form of cystic fibrosis
-
Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A. Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis. JAMA 1992; 267:1794-1797.
-
(1992)
JAMA
, vol.267
, pp. 1794-1797
-
-
Anguiano, A.1
Oates, R.D.2
Amos, J.A.3
Dean, M.4
Gerrard, B.5
Stewart, C.6
Maher, T.A.7
White, M.B.8
Milunsky, A.9
-
2
-
-
0028124953
-
Congenital bilateral absence of vas deferens in the absence of cystic fibrosis
-
Augarten A, Yahav Y, Kerem BS, Halle D, Laufer J, Szeinberg A, Dor J, Mashiach S, Gazit E, Madgar I. Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. Lancet 1994:344:1473- 1474.
-
(1994)
Lancet
, vol.344
, pp. 1473-1474
-
-
Augarten, A.1
Yahav, Y.2
Kerem, B.S.3
Halle, D.4
Laufer, J.5
Szeinberg, A.6
Dor, J.7
Mashiach, S.8
Gazit, E.9
Madgar, I.10
-
3
-
-
0028878970
-
Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: In 50% of cases only one CFTR allele could be detected
-
Casals T, Bassas L, Ruiz-Romero J, Chillon M, Gimenez J, Ramos MD, Tapia G, Narvaez H, Nunes V, Estivill X. Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: In 50% of cases only one CFTR allele could be detected. Hum Genet 1995; 95:205-211.
-
(1995)
Hum Genet
, vol.95
, pp. 205-211
-
-
Casals, T.1
Bassas, L.2
Ruiz-Romero, J.3
Chillon, M.4
Gimenez, J.5
Ramos, M.D.6
Tapia, G.7
Narvaez, H.8
Nunes, V.9
Estivill, X.10
-
4
-
-
0033803792
-
Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens
-
Casals T, Bassas L, Egozcue S, Ramos MD, Gimenez J, Segura A, Garcia F, Carrera M, Larriba S, Sarquella J et al. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Hum Reprod 2000; 15:1476- 1483.
-
(2000)
Hum Reprod
, vol.15
, pp. 1476-1483
-
-
Casals, T.1
Bassas, L.2
Egozcue, S.3
Ramos, M.D.4
Gimenez, J.5
Segura, A.6
Garcia, F.7
Carrera, M.8
Larriba, S.9
Sarquella, J.10
-
5
-
-
43549114493
-
Consensus on the use and Interpretation of cystic fibrosis mutation analysis In clinical practice
-
Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A et al. Consensus on the use and Interpretation of cystic fibrosis mutation analysis In clinical practice. J Cyst Fibras 2008:7:179 196.
-
(2008)
J Cyst Fibras
, vol.7
, pp. 179-196
-
-
Castellani, C.1
Cuppens, H.2
Macek Jr, M.3
Cassiman, J.J.4
Kerem, E.5
Durie, P.6
Tullis, E.7
Assael, B.M.8
Bombieri, C.9
Brown, A.10
-
6
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz Romero J, Verlingue C, Claustres M et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995:332:1475-1480.
-
(1995)
N Engl J Med
, vol.332
, pp. 1475-1480
-
-
Chillon, M.1
Casals, T.2
Mercier, B.3
Bassas, L.4
Lissens, W.5
Silber, S.6
Romey, M.C.7
Ruiz Romero, J.8
Verlingue, C.9
Claustres, M.10
-
7
-
-
0029758296
-
CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France
-
Claustres M, Desgeorges M, Moine P, Morral N, Estivill X. CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France. Hum Genet 1996:98:336-344.
-
(1996)
Hum Genet
, vol.98
, pp. 336-344
-
-
Claustres, M.1
Desgeorges, M.2
Moine, P.3
Morral, N.4
Estivill, X.5
-
8
-
-
0033860259
-
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens In France
-
Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G et al. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens In France. Hum Mutat 2000; 16:143 - 156.
-
(2000)
Hum Mutat
, vol.16
, pp. 143-156
-
-
Claustres, M.1
Guittard, C.2
Bozon, D.3
Chevalier, F.4
Verlingue, C.5
Ferec, C.6
Girodon, E.7
Cazeneuve, C.8
Bienvenu, T.9
Lalau, G.10
-
9
-
-
0036842950
-
Detecting polymorphisms and mutations in candidate genes
-
Collins JS, Schwartz CE. Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet 2002;71:1251 1252.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1251-1252
-
-
Collins, J.S.1
Schwartz, C.E.2
-
10
-
-
0028791190
-
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens
-
Costes B, Girodon E, Ghanem N, Flori E, Jardin A, Soufir JC, Goossens M. Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. Eur J Hum Genet 1995; 3:285-293.
-
(1995)
Eur J Hum Genet
, vol.3
, pp. 285-293
-
-
Costes, B.1
Girodon, E.2
Ghanem, N.3
Flori, E.4
Jardin, A.5
Soufir, J.C.6
Goossens, M.7
-
12
-
-
2442519310
-
Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens
-
Dayangac D, Erdem H, Yilmaz E, Sahin A, Sohn C, Ozguc M, Dork T. Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. Hum Reprod 2004; 19:1094- 1100.
-
(2004)
Hum Reprod
, vol.19
, pp. 1094-1100
-
-
Dayangac, D.1
Erdem, H.2
Yilmaz, E.3
Sahin, A.4
Sohn, C.5
Ozguc, M.6
Dork, T.7
-
13
-
-
0025312731
-
Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients
-
Dean M, White MB, Amos J, Gerrard B, Stewart C, Khaw KT, Leppert M. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. Cell 1990:61:863-870.
-
(1990)
Cell
, vol.61
, pp. 863-870
-
-
Dean, M.1
White, M.B.2
Amos, J.3
Gerrard, B.4
Stewart, C.5
Khaw, K.T.6
Leppert, M.7
-
14
-
-
57649232744
-
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR related disorders-updated European recommendations
-
Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, Georges MD, Ferec C, Macek M. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR related disorders-updated European recommendations. EurJ Hum Genet 2009:17:51 -65.
-
(2009)
EurJ Hum Genet
, vol.17
, pp. 51-65
-
-
Dequeker, E.1
Stuhrmann, M.2
Morris, M.A.3
Casals, T.4
Castellani, C.5
Claustres, M.6
Cuppens, H.7
Georges, M.D.8
Ferec, C.9
Macek, M.10
-
15
-
-
0026551786
-
Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families
-
Dork T, Neumann T, Wulbrand U, Wulf B, Kalin N, Maass G, Krawczak M, Guillermit H, Ferec C, Horn G et al. Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families. Hum Genet 1992;88:417-425.
-
(1992)
Hum Genet
, vol.88
, pp. 417-425
-
-
Dork, T.1
Neumann, T.2
Wulbrand, U.3
Wulf, B.4
Kalin, N.5
Maass, G.6
Krawczak, M.7
Guillermit, H.8
Ferec, C.9
Horn, G.10
-
16
-
-
1842339924
-
-
Dork T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Bohm l, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J et al. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet 1997;100:365-377.
-
Dork T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Bohm l, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J et al. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet 1997;100:365-377.
-
-
-
-
17
-
-
0026764808
-
Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene
-
Ferrie RM, Schwarz MJ, Robertson NH, Vaudin S, Super M, Malone G, Little S. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet 1992; 51:251-262.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 251-262
-
-
Ferrie, R.M.1
Schwarz, M.J.2
Robertson, N.H.3
Vaudin, S.4
Super, M.5
Malone, G.6
Little, S.7
-
18
-
-
0025729981
-
-
Gasparinl P, Dognlni M, Bonizzato A, Pignatti PF, Morral N, Estivill X. A tetranucleotide repeat polymorphism in the cystic fibrosis gene. Hum Genet 1991 a; 86:625.
-
Gasparinl P, Dognlni M, Bonizzato A, Pignatti PF, Morral N, Estivill X. A tetranucleotide repeat polymorphism in the cystic fibrosis gene. Hum Genet 1991 a; 86:625.
-
-
-
-
19
-
-
0025762972
-
The search for south European cystic fibrosis mutations: Identification of two new mutations, four variants, and intronic sequences
-
Gasparini P, Nunes V, Savoia A, Dognini M, Morral N, Gaona A, Bonizzato A, Chillon M, Sangiuolo F, Novelli G et al. The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences. Genomics 1991b; 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
-
20
-
-
9244225677
-
A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis
-
Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics 1959:23:545-549.
-
(1959)
Pediatrics
, vol.23
, pp. 545-549
-
-
Gibson, L.E.1
Cooke, R.E.2
-
21
-
-
8344267489
-
Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens
-
Grangeia A, Niel F, Carvalho F, Fernandes S, Ardalan A, Girodon E, Silva J, Ferras L, Sousa M, Barros A. Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens. Hum Reprod 2004;19:2502-2508.
-
(2004)
Hum Reprod
, vol.19
, pp. 2502-2508
-
-
Grangeia, A.1
Niel, F.2
Carvalho, F.3
Fernandes, S.4
Ardalan, A.5
Girodon, E.6
Silva, J.7
Ferras, L.8
Sousa, M.9
Barros, A.10
-
22
-
-
51149085670
-
Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide binding domains
-
Grangeia A, Barro-Soria R, Carvalho F, Damas AM, Mauricio AC, Kunzelmann K, Barros A, Sousa M. Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide binding domains. Cell Physiol Biochem 2008:22:79-92.
-
(2008)
Cell Physiol Biochem
, vol.22
, pp. 79-92
-
-
Grangeia, A.1
Barro-Soria, R.2
Carvalho, F.3
Damas, A.M.4
Mauricio, A.C.5
Kunzelmann, K.6
Barros, A.7
Sousa, M.8
-
23
-
-
9144235448
-
Variation In a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene Is pathogenic or benign
-
Groman JD, Hefferon TW, Casals T, Bassas L Estivill X, Des Georges M, Guittard C, Koudova M, FaIIin MD, Nemeth K et al. Variation In a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene Is pathogenic or benign. Am J Hum Genet 2004:74:176-179.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 176-179
-
-
Groman, J.D.1
Hefferon, T.W.2
Casals, T.3
Bassas, L.4
Estivill, X.5
Des Georges, M.6
Guittard, C.7
Koudova, M.8
FaIIin, M.D.9
Nemeth, K.10
-
24
-
-
33645396501
-
A large deletion in the CFTR gene in CBAVD
-
Hantash FM, Milunsky A, Wang Z, Anderson B, Sun W, Anguiano A, Strom CM. A large deletion in the CFTR gene in CBAVD. Genet Med 2006;8:93-95.
-
(2006)
Genet Med
, vol.8
, pp. 93-95
-
-
Hantash, F.M.1
Milunsky, A.2
Wang, Z.3
Anderson, B.4
Sun, W.5
Anguiano, A.6
Strom, C.M.7
-
25
-
-
0027434131
-
How sensitive is PCR-SSCP?
-
Hayashi K, Yandell DW. How sensitive is PCR-SSCP? Hum Mut 1993; 2:338-346.
-
(1993)
Hum Mut
, vol.2
, pp. 338-346
-
-
Hayashi, K.1
Yandell, D.W.2
-
26
-
-
0025193745
-
Frequency of the delta Phe508 mutation and correlation with XV.2c/KM 19 haplotypes in an American population of cystic fibrosis patients: Results of a collaborative study
-
Highsmith WE Jr, Chong GL, Orr HT, Perry TR, Schald D, Farber R, Wagner K, Knowles MR, Warwick WJ, Silverman LM et al. Frequency of the delta Phe508 mutation and correlation with XV.2c/KM 19 haplotypes in an American population of cystic fibrosis patients: results of a collaborative study. Clin Chem 1990;36:1741-1746.
-
(1990)
Clin Chem
, vol.36
, pp. 1741-1746
-
-
Highsmith Jr, W.E.1
Chong, G.L.2
Orr, H.T.3
Perry, T.R.4
Schald, D.5
Farber, R.6
Wagner, K.7
Knowles, M.R.8
Warwick, W.J.9
Silverman, L.M.10
-
28
-
-
0031722993
-
Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: Role of cystic fibrosis transmembrane conductance regulator gene mutations
-
Jarvi K, McCallum S, Zielenski J, Durie P, Tullis E, Wilchanski M, Margolis M, Asch M, Ginzburg B, Martin S et al. Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations. Fertil Steril 1998;70:724-728.
-
(1998)
Fertil Steril
, vol.70
, pp. 724-728
-
-
Jarvi, K.1
McCallum, S.2
Zielenski, J.3
Durie, P.4
Tullis, E.5
Wilchanski, M.6
Margolis, M.7
Asch, M.8
Ginzburg, B.9
Martin, S.10
-
29
-
-
0031960072
-
Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia
-
Kanavakis E, Tzetis M, Antoniadi T, Pistofidis G, Milligos S, Kattamis C. Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia. Mol Hum Reprod 1998:4:333-337.
-
(1998)
Mol Hum Reprod
, vol.4
, pp. 333-337
-
-
Kanavakis, E.1
Tzetis, M.2
Antoniadi, T.3
Pistofidis, G.4
Milligos, S.5
Kattamis, C.6
-
30
-
-
31344454857
-
Carrier frequency of F508del mutation of cystic fibrosis in Indian population
-
Kapoor V, Shastri SS, Kabra M, Kabra SK, Ramachandran V, Arora S, Balakrishnan P, Deorari AK, Paul VK. Carrier frequency of F508del mutation of cystic fibrosis in Indian population. J Cyst Fibros 2006; 5:43-46.
-
(2006)
J Cyst Fibros
, vol.5
, pp. 43-46
-
-
Kapoor, V.1
Shastri, S.S.2
Kabra, M.3
Kabra, S.K.4
Ramachandran, V.5
Arora, S.6
Balakrishnan, P.7
Deorari, A.K.8
Paul, V.K.9
-
31
-
-
0025133518
-
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene
-
Kerem BS, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahav J, Kennedy D, Riordan JR, Collins FS, Rommens J et al. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 1990:87:8447- 8451.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 8447-8451
-
-
Kerem, B.S.1
Zielenski, J.2
Markiewicz, D.3
Bozon, D.4
Gazit, E.5
Yahav, J.6
Kennedy, D.7
Riordan, J.R.8
Collins, F.S.9
Rommens, J.10
-
32
-
-
0033575077
-
Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia
-
Mak V, Zielenski J, Tsui LC, Durie P, Zini A, Martin S, Longley TB, Jarvi KA. Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia. JAMA 1999; 281:2217-2224.
-
(1999)
JAMA
, vol.281
, pp. 2217-2224
-
-
Mak, V.1
Zielenski, J.2
Tsui, L.C.3
Durie, P.4
Zini, A.5
Martin, S.6
Longley, T.B.7
Jarvi, K.A.8
-
33
-
-
0029086620
-
Congenital unilateral absence of the vas deferens: A heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene
-
Mickle J, Milunsky A, Amos JA, Oates RD. Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Hum Reprod 1995; 10:1728-1735.
-
(1995)
Hum Reprod
, vol.10
, pp. 1728-1735
-
-
Mickle, J.1
Milunsky, A.2
Amos, J.A.3
Oates, R.D.4
-
34
-
-
0028069337
-
The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis
-
Oates RD, Amos JA. The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis. J Androl 1994; 15:1 -8.
-
(1994)
J Androl
, vol.15
, pp. 1-8
-
-
Oates, R.D.1
Amos, J.A.2
-
35
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
-
Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 1989; 86:2766-2770.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Hayashi, K.4
Sekiya, T.5
-
36
-
-
0032226945
-
Expression of the cystic fibrosis transmembrane conductance regulator (CFTR) mRNA in normal and pathological adult human epididymis
-
Patrizio P, Salameh WA. Expression of the cystic fibrosis transmembrane conductance regulator (CFTR) mRNA in normal and pathological adult human epididymis. J Reprod Fertil Suppl 1998:53:261- 270.
-
(1998)
J Reprod Fertil Suppl
, vol.53
, pp. 261-270
-
-
Patrizio, P.1
Salameh, W.A.2
-
37
-
-
0031215083
-
Cystic fibrosis in the Brazilian population: DF508 mutation and KM 19/ XV- 2C haplotype distribution
-
Raskin S, Phillips JA 3rd, Krishnamani MR, Vnencak-Jones C, Parker RA, Rozov T, Cardieri JM, Marostica P, Abreu F, Giugliani R. Cystic fibrosis in the Brazilian population: DF508 mutation and KM 19/ XV- 2C haplotype distribution. Hum Biol 1997:69:499- 508.
-
(1997)
Hum Biol
, vol.69
, pp. 499-508
-
-
Raskin, S.1
Phillips 3rd, J.A.2
Krishnamani, M.R.3
Vnencak-Jones, C.4
Parker, R.A.5
Rozov, T.6
Cardieri, J.M.7
Marostica, P.8
Abreu, F.9
Giugliani, R.10
-
38
-
-
34250180679
-
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling
-
Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, lzard V, Costes B, Costa C, Goossens M, Girodon E. Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. Hum Reprod 2007:22:1285- 1291.
-
(2007)
Hum Reprod
, vol.22
, pp. 1285-1291
-
-
Ratbi, I.1
Legendre, M.2
Niel, F.3
Martin, J.4
Soufir, J.C.5
lzard, V.6
Costes, B.7
Costa, C.8
Goossens, M.9
Girodon, E.10
-
39
-
-
0029883879
-
Urogenital anomalies in men with congenital absence of the vas deferens
-
Schlegel PN, Shin D, Goldstein M. Urogenital anomalies in men with congenital absence of the vas deferens. J Urol 1996; 155:1644- 1648.
-
(1996)
J Urol
, vol.155
, pp. 1644-1648
-
-
Schlegel, P.N.1
Shin, D.2
Goldstein, M.3
-
40
-
-
55549101908
-
Implication of the cystic fibrosis transmembrane conductance regulator gene in infertile members of Indian CF patients
-
Sharma S, Singh M, Acharya N, Singh SK, Thapa BR, Kaur G, Prasad R. Implication of the cystic fibrosis transmembrane conductance regulator gene in infertile members of Indian CF patients. Biochem Genet 2008;46:847-856.
-
(2008)
Biochem Genet
, vol.46
, pp. 847-856
-
-
Sharma, S.1
Singh, M.2
Acharya, N.3
Singh, S.K.4
Thapa, B.R.5
Kaur, G.6
Prasad, R.7
-
41
-
-
58149305457
-
Identification and characterization of CFTR gene mutations in Indian CF patients
-
Sharma S, Singh M, Kaur G, Thapa BR, Prasad R. Identification and characterization of CFTR gene mutations in Indian CF patients. Ann Hum Genet 2009;73:26-33.
-
(2009)
Ann Hum Genet
, vol.73
, pp. 26-33
-
-
Sharma, S.1
Singh, M.2
Kaur, G.3
Thapa, B.R.4
Prasad, R.5
-
42
-
-
40649095907
-
Characterization of mutations and genotype phenotype correlation in cystic fibrosis: Experience from India
-
Shastri SS, Kabra M, Kabra SK, Pandey RM, Menon PS. Characterization of mutations and genotype phenotype correlation in cystic fibrosis: experience from India. J Cyst Fibros 2008;7:1 10 -115.
-
(2008)
J Cyst Fibros
, vol.7
, Issue.1
, pp. 10-115
-
-
Shastri, S.S.1
Kabra, M.2
Kabra, S.K.3
Pandey, R.M.4
Menon, P.S.5
-
43
-
-
34249654482
-
-
Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C,des Georges M, Claustres M. Large genomic rearrangements In the CFTR gene contribute to CBAVD. BMC Med Genet 2007;8:22.
-
Taulan M, Girardet A, Guittard C, Altieri JP, Templin C, Beroud C,des Georges M, Claustres M. Large genomic rearrangements In the CFTR gene contribute to CBAVD. BMC Med Genet 2007;8:22.
-
-
-
|