-
1
-
-
16944366211
-
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1
-
Bisceglia L, Calonge MJ, Totaro 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. 1997. Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. Am J Hum Genet 60:611-616.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 611-616
-
-
Bisceglia, L.1
Calonge, M.J.2
Totaro, 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
-
-
10144242646
-
Molecular analysis of the cystinuria disease gene: Identification of four new mutations, one large deletion, and one polymorphism
-
Bisceglia L, Calonge MJ, Dello Strologo L, Rizzoni G, de Sanctis L, Gallucci M, Beccia E, Testar X, Zorzano A, Estivill X, Zelante L, Palacin M, Gasparini P, Nunes V. 1996. Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism. Hum Genet 98:447-451.
-
(1996)
Hum Genet
, vol.98
, pp. 447-451
-
-
Bisceglia, L.1
Calonge, M.J.2
Dello Strologo, L.3
Rizzoni, G.4
De Sanctis, L.5
Gallucci, M.6
Beccia, E.7
Testar, X.8
Zorzano, A.9
Estivill, X.10
Zelante, L.11
Palacin, M.12
Gasparini, P.13
Nunes, V.14
-
3
-
-
0025964920
-
Allele frequency estimation from data on relatives
-
Boehnke M. 1991. Allele frequency estimation from data on relatives. Am J Hum Genet 48:22-25.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 22-25
-
-
Boehnke, M.1
-
4
-
-
0028237714
-
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
-
Calonge MJ, Gasparini P, Chillaron J, Chillon M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F. 1994. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet 6:420-425.
-
(1994)
Nat Genet
, vol.6
, pp. 420-425
-
-
Calonge, M.J.1
Gasparini, P.2
Chillaron, J.3
Chillon, M.4
Gallucci, M.5
Rousaud, F.6
Zelante, L.7
Testar, X.8
Dallapiccola, B.9
Di Silverio, F.10
-
5
-
-
0029061119
-
Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization
-
Calonge MJ, Nadal M, Calvano S, Testar X, Zelante L, Zorzano A, Estivill X, Gasparini P, Palacin M, Nunes V. 1995. Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization. Hum Genet 95:633-636.
-
(1995)
Hum Genet
, vol.95
, pp. 633-636
-
-
Calonge, M.J.1
Nadal, M.2
Calvano, S.3
Testar, X.4
Zelante, L.5
Zorzano, A.6
Estivill, X.7
Gasparini, P.8
Palacin, M.9
Nunes, V.10
-
7
-
-
0018913446
-
Transport interactions of cystine and dibasic amino acids in isolated renal tubules
-
Foreman J, Hwang S-M, Segal S. 1980. Transport interactions of cystine and dibasic amino acids in isolated renal tubules. Metabolism 29:53-61.
-
(1980)
Metabolism
, vol.29
, pp. 53-61
-
-
Foreman, J.1
Hwang, S.-M.2
Segal, S.3
-
8
-
-
0029100842
-
Molecular genetics of cystinuria: Identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity
-
Gasparini P, Calonge MJ, Bisceglia L, Purroy J, Dianzani I, Notarangelo A, Rousaud F, Gallucci M, Testar X, Ponzone, A. 1995. Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. Am J Hum Genet 57: 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
Gallucci, M.8
Testar, X.9
Ponzone, A.10
-
9
-
-
24244446320
-
-
Généthon. 1998. http:/www.genethon.fr/pub/Gmap/nature-1995/data
-
(1998)
-
-
Généthon1
-
10
-
-
0027510375
-
Prospective analysis and classification of patients with cystinuria identified in a newborn screening program
-
Goodyer PR, Clow C, Reade T, Girardin C. 1993. Prospective analysis and classification of patients with cystinuria identified in a newborn screening program. J Pediatr 122:568-572.
-
(1993)
J Pediatr
, vol.122
, pp. 568-572
-
-
Goodyer, P.R.1
Clow, C.2
Reade, T.3
Girardin, C.4
-
12
-
-
0021344005
-
Easy calculations of lod scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM. 1984. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465.
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
13
-
-
0015354306
-
Massachusetts metabolic disorders screening program. I. Technics and results of urine screening
-
Levy HL, Madigan PM, Shih VE. 1972. Massachusetts metabolic disorders screening program. I. Technics and results of urine screening. Pediatrics 49:825-835.
-
(1972)
Pediatrics
, vol.49
, pp. 825-835
-
-
Levy, H.L.1
Madigan, P.M.2
Shih, V.E.3
-
15
-
-
0019461272
-
Cystine uptake in rat renal brushborder vesicles
-
McNamara P, Pepe L, Segal S. 1981. Cystine uptake in rat renal brushborder vesicles. Biochem J 194:443-449.
-
(1981)
Biochem J
, vol.194
, pp. 443-449
-
-
McNamara, P.1
Pepe, L.2
Segal, S.3
-
16
-
-
0024284028
-
A simple salting-out procedure for extracting DNA from human nucleated cells
-
Miller S, Dykes D, Polesky H. 1988. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research 16:1215.
-
(1988)
Nucleic Acids Research
, vol.16
, pp. 1215
-
-
Miller, S.1
Dykes, D.2
Polesky, H.3
-
17
-
-
0029877158
-
The rBAT gene is responsible for L-cystine uptake via the b0,(+)-like amino acid transport system in a "renal proximal tubular" cell line (OK cells)
-
Mora C, Chillaron J, Calonge MJ, Forgo J, Testar X, Nunes V, Murer H, Zorzano A, Palacin M. 1996. The rBAT gene is responsible for L-cystine uptake via the b0,(+)-like amino acid transport system in a "renal proximal tubular" cell line (OK cells). J Biol Chem 271:10569-10576.
-
(1996)
J Biol Chem
, vol.271
, pp. 10569-10576
-
-
Mora, C.1
Chillaron, J.2
Calonge, M.J.3
Forgo, J.4
Testar, X.5
Nunes, V.6
Murer, H.7
Zorzano, A.8
Palacin, M.9
-
18
-
-
0028790963
-
The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance
-
O'Connell JR, Weeks DE. 1995. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet 11:402-408.
-
(1995)
Nat Genet
, vol.11
, pp. 402-408
-
-
O'Connell, J.R.1
Weeks, D.E.2
-
19
-
-
0344038580
-
Collaborative transplant study, manual for HLA-DR typing by the PCR-SSP method
-
May 10-13, Heidelberg, Germany
-
Opelz G. 1992. Collaborative Transplant Study, Manual for HLA-DR Typing by the PCR-SSP Method. Presented at the Tenth Anniversary of the Collaborative Transplant Study and 100,000 CTS Transplants, May 10-13, 1992, Heidelberg, Germany.
-
(1992)
Tenth Anniversary of the Collaborative Transplant Study and 100,000 CTS Transplants
-
-
Opelz, G.1
-
20
-
-
0029027356
-
Mutations in the SLC3A transporter gene in cystinuria
-
Pras E, Raben N, Golomb E, Arber N, Aksentijevich I, Schapiro JM, Harel D, Katz G, Liberman U, Pras M. 1995. Mutations in the SLC3A transporter gene in cystinuria. Am J Hum Genet 56:1297-1303.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1297-1303
-
-
Pras, E.1
Raben, N.2
Golomb, E.3
Arber, N.4
Aksentijevich, I.5
Schapiro, J.M.6
Harel, D.7
Katz, G.8
Liberman, U.9
Pras, M.10
-
22
-
-
0002855984
-
Cystinuria
-
Scriver C, Beaudet A, Sly W, Valle D (eds): New York: McGraw-Hill
-
Segal S, Thier S. 1995. Cystinuria. In Scriver C, Beaudet A, Sly W, Valle D (eds): "The Metabolic and Molecular Bases of Inherited Disease." New York: McGraw-Hill, p 3581-3601.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3581-3601
-
-
Segal, S.1
Thier, S.2
-
23
-
-
0017741058
-
Transport interaction of cystine and dibasic amino acids in renal brush border vesicles
-
Segal S, McNamara P, Pepe L. 1977. Transport interaction of cystine and dibasic amino acids in renal brush border vesicles. Science 197:169.
-
(1977)
Science
, vol.197
, pp. 169
-
-
Segal, S.1
McNamara, P.2
Pepe, L.3
-
24
-
-
0023687748
-
The renal handling of amino acids and oligopeptides
-
Silbernagl S. 1988. The renal handling of amino acids and oligopeptides. Physiological Reviews 68:911-1007.
-
(1988)
Physiological Reviews
, vol.68
, pp. 911-1007
-
-
Silbernagl, S.1
-
25
-
-
0342762913
-
Interactions of amino acids in renal tubular transport
-
Webber WA, Brown JL, Pitts RF. 1960. Interactions of amino acids in renal tubular transport. Amer J Physiol 200:380-386.
-
(1960)
Amer J Physiol
, vol.200
, pp. 380-386
-
-
Webber, W.A.1
Brown, J.L.2
Pitts, R.F.3
-
26
-
-
0016328384
-
High frequency of cystinuria among Jews of Libyan origin
-
Weinberger A, Sperling O, Rabinovitz M, Brosh S, Adam A, de Vries A. 1974. High frequency of cystinuria among Jews of Libyan origin. Human Heredity 24:568-557.
-
(1974)
Human Heredity
, vol.24
, pp. 568-557
-
-
Weinberger, A.1
Sperling, O.2
Rabinovitz, M.3
Brosh, S.4
Adam, A.5
De Vries, A.6
|