-
1
-
-
16944366211
-
Localization by linkage analysis of the cystinuria type III gene to chromosome 19q13.1
-
Bisceglia L., Calonge M. J., Torato A., Feliubadalo L., Melchionda S., Garcia J., Testar X., Gallucci M., Ponzone A., Zelante L., Zorzano A., Estivill X., Gasparini P., Nunes V., Palacin M. Localization by linkage analysis of the cystinuria type III gene to chromosome 19q13.1. Am. J. Hum. Genet. 60:1997;611-616.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 611-616
-
-
Bisceglia, L.1
Calonge, M.J.2
Torato, A.3
Feliubadalo, L.4
Melchionda, S.5
Garcia, J.6
Testar, X.7
Gallucci, M.8
Ponzone, A.9
Zelante, L.10
Zorzano, A.11
Estivill, X.12
Gasparini, P.13
Nunes, V.14
Palacin, M.15
-
2
-
-
0017764142
-
Clinical features and management of cystinuria
-
Dahlberg P. G., Vandenberg C. J., Kurtz S. B., Wilson D. M., Smith L. H. Clinical features and management of cystinuria. Mayo Clin. Proc. 52:1977;533-542.
-
(1977)
Mayo Clin. Proc.
, vol.52
, pp. 533-542
-
-
Dahlberg, P.G.1
Vandenberg, C.J.2
Kurtz, S.B.3
Wilson, D.M.4
Smith, L.H.5
-
3
-
-
0028997456
-
A continuous high-resolution physical map spanning 17 megabases of the q12, q13.1, and q13.2 cytogenetic bands of chromosome 19
-
Garcia E., Elliot J., Gorvad A., Brandriff B., Gordon L., Soliman K. M., Ashworth L. K., Lennon G., Burgin M., Lamerdin J., Carrano A. V. A continuous high-resolution physical map spanning 17 megabases of the q12, q13.1, and q13.2 cytogenetic bands of chromosome 19. Genomics. 27:1995;52-66.
-
(1995)
Genomics
, vol.27
, pp. 52-66
-
-
Garcia, E.1
Elliot, J.2
Gorvad, A.3
Brandriff, B.4
Gordon, L.5
Soliman, K.M.6
Ashworth, L.K.7
Lennon, G.8
Burgin, M.9
Lamerdin, J.10
Carrano, A.V.11
-
4
-
-
0029100842
-
Molecular genetics of cystinuria: Identification of four new mutations and seven polymorphisms, and evidence for heterogeneity
-
Gasparini P., Calonge M. J., Bisceglia L., Purroy J., Dianzani I., Notarangelo A., Rousaud F., Galluci M., Testar X., Ponzone A., Estivill X., Zorzano A., Palacin M., Nunes V., Zelante L. Molecular genetics of cystinuria: Identification of four new mutations and seven polymorphisms, and evidence for heterogeneity. Am. J. Hum. Genet. 57:1995;781-788.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 781-788
-
-
Gasparini, P.1
Calonge, M.J.2
Bisceglia, L.3
Purroy, J.4
Dianzani, I.5
Notarangelo, A.6
Rousaud, F.7
Galluci, M.8
Testar, X.9
Ponzone, A.10
Estivill, X.11
Zorzano, A.12
Palacin, M.13
Nunes, V.14
Zelante, L.15
-
5
-
-
0032518613
-
Regions of sex-specific hypo- And hyper-recombination identified through integration of 180 genetic markers into the metric physical map of human chromosome 19
-
Mohrenweiser H. W., Tsujimoto S., Gordon L., Olsen A. S. Regions of sex-specific hypo- and hyper-recombination identified through integration of 180 genetic markers into the metric physical map of human chromosome 19. Genomics. 47:1998;153-162.
-
(1998)
Genomics
, vol.47
, pp. 153-162
-
-
Mohrenweiser, H.W.1
Tsujimoto, S.2
Gordon, L.3
Olsen, A.S.4
-
6
-
-
0028819262
-
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent decent from a small founder population
-
Risch N., de Leon D., Ozelius L., Kramer P., Almasy L., Singer B., Fahn S., Breakefield X., Bressman S. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent decent from a small founder population. Nat. Genet. 9:1995;152-159.
-
(1995)
Nat. Genet.
, vol.9
, pp. 152-159
-
-
Risch, N.1
De Leon, D.2
Ozelius, L.3
Kramer, P.4
Almasy, L.5
Singer, B.6
Fahn, S.7
Breakefield, X.8
Bressman, S.9
-
7
-
-
0013887059
-
Cystinuria: Biochemical evidence for three genetically distinct diseases
-
Rosenberg L. E., Downing S., Durant J. L., Segal S. Cystinuria: Biochemical evidence for three genetically distinct diseases. J. Clin. Invest. 45:1966;365-371.
-
(1966)
J. Clin. Invest.
, vol.45
, pp. 365-371
-
-
Rosenberg, L.E.1
Downing, S.2
Durant, J.L.3
Segal, S.4
-
8
-
-
0031029375
-
Molecular analysis of cystinuria in Jews of Libyan origin: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q
-
Wartenfeld R., Golomb E., Katz G., Bale S. J., Boleslaw G., Pras M., Kastner D. L., Pras E. Molecular analysis of cystinuria in Jews of Libyan origin: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am. J. Hum. Genet. 60:1997;617-624.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 617-624
-
-
Wartenfeld, R.1
Golomb, E.2
Katz, G.3
Bale, S.J.4
Boleslaw, G.5
Pras, M.6
Kastner, D.L.7
Pras, E.8
-
9
-
-
0016328384
-
High frequency of cystinuria among Jews of Libyan origin
-
Weinberger A., Sperling O., Rabinovitz M., Brosh S., Adam A., De Vries A. High frequency of cystinuria among Jews of Libyan origin. Hum. Hered. 24:1974;568-572.
-
(1974)
Hum. Hered.
, vol.24
, pp. 568-572
-
-
Weinberger, A.1
Sperling, O.2
Rabinovitz, M.3
Brosh, S.4
Adam, A.5
De Vries, A.6
|