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Items: 46

1.

[A new approach to urinary stone analysis according to the combination of the components: experience with 7949 cases].

Millán F, Gracia S, Sánchez-Martín FM, Angerri O, Rousaud F, Villavicencio H.

Actas Urol Esp. 2011 Mar;35(3):138-43. doi: 10.1016/j.acuro.2010.10.007. Epub 2011 Feb 24. Spanish.

PMID:
21349601
2.

Gene symbol: SLC3A1. Disease: Cystinuria.

Nunes V, Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacin M, Nunes V.

Hum Genet. 2005 May;116(6):541. No abstract available.

PMID:
15991324
3.

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):246. No abstract available.

PMID:
15818843
4.

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):245. No abstract available.

PMID:
15818840
5.

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):244. No abstract available.

PMID:
15818838
6.

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):244. No abstract available.

PMID:
15818837
7.

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):243. No abstract available.

PMID:
15818836
8.

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):243. No abstract available.

PMID:
15818835
9.

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):242. No abstract available.

PMID:
15818832
10.

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):241. No abstract available.

PMID:
15818829
11.

Gene symbol: SLC7A9. Disease: cystinuria, untyped.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):239. No abstract available.

PMID:
15818824
12.

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):239. No abstract available.

PMID:
15818823
13.

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):239. No abstract available.

PMID:
15818822
14.

Gene symbol: SLC7A9. Disease: cystinuria, untyped.

Nunes M, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):238. No abstract available.

PMID:
15818820
15.

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):238. No abstract available.

PMID:
15818819
16.

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V, Font-Llitjós M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):237. No abstract available.

PMID:
15818818
17.

Gene symbol: SLC7A9. Disease: cystinuria, type I.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):237. No abstract available.

PMID:
15818817
18.

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):237. No abstract available.

PMID:
15818816
19.

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):236. No abstract available.

PMID:
15818815
20.

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):235. No abstract available.

PMID:
15818810
21.

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):234. No abstract available.

PMID:
15818809
22.

Gene symbol: SLC7A9. Disease: cystinuria, untyped.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):234. No abstract available.

PMID:
15818807
23.

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):233. No abstract available.

PMID:
15818806
24.

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):232. No abstract available.

PMID:
15818803
25.

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):232. No abstract available.

PMID:
15818802
26.

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Biceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V.

Hum Genet. 2005 Feb;116(3):232. No abstract available.

PMID:
15818801
27.

Gene symbol: SLC3A1. Disease: cystinuria.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V.

Hum Genet. 2005 Feb;116(3):231. No abstract available.

PMID:
15818800
28.

Gene symbol: SLC7A9. Disease: cystinuria, type non-I.

Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M.

Hum Genet. 2005 Feb;116(3):231. No abstract available.

PMID:
15818799
29.

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V.

J Med Genet. 2005 Jan;42(1):58-68.

30.

Solid scrotum mass as a late complication of hypospadias repair.

Rodríguez-Villalba R, Ruiz-Castañé E, Rousaud F.

Int Urol Nephrol. 2003;35(2):199-200. No abstract available.

PMID:
15072494
31.

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.

Feliubadaló L, Arbonés ML, Mañas S, Chillarón J, Visa J, Rodés M, Rousaud F, Zorzano A, Palacín M, Nunes V.

Hum Mol Genet. 2003 Sep 1;12(17):2097-108. Epub 2003 Jul 15.

PMID:
12915471
32.

[Cystinuria].

Rousaud F, Palacín M, Nunes V.

Nefrologia. 2003;23 Suppl 1:52-9. Review. Spanish. No abstract available.

33.

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, Ponzone A, Gallucci M, Bisceglia L, Zelante L, Jimenez-Vidal M, Font M, Zorzano A, Rousaud F, Nunes V, Gasparini P, Palacín M, Rizzoni G.

J Am Soc Nephrol. 2002 Oct;13(10):2547-53.

34.

rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney.

Fernández E, Carrascal M, Rousaud F, Abián J, Zorzano A, Palacín M, Chillarón J.

Am J Physiol Renal Physiol. 2002 Sep;283(3):F540-8.

35.

[Cystinuria and cystine kidney lithiasis. Diagnosis and therapeutic approach].

Rousaud F, Gracia S, Palacín M, Nunes V, Millán F, Oliver A, Rousaud A.

Arch Esp Urol. 2001 Nov;54(9):989-96. Review. Spanish.

PMID:
11789376
36.

[Analysis and clinical course of residual lithiasis after shock wave renal treatment].

Rousaud Baron A, Millán F, Izquierdo de la Torre F, Rousaud F, López Llauradó H, Martí Malet J, de la Torre Holguera P.

Arch Esp Urol. 2001 Nov;54(9):1009-16. Review. Spanish.

PMID:
11789358
37.

Cystinuria type I: identification of eight new mutations in SLC3A1.

Bisceglia L, Purroy J, Jiménez-Vidal M, d'Adamo AP, Rousaud F, Beccia E, Penza R, Rizzoni G, Gallucci M, Palacín M, Gasparini P, Nunes V, Zelante L.

Kidney Int. 2001 Apr;59(4):1250-6.

38.

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M; International Cystinuria Consortium.

Nat Genet. 1999 Sep;23(1):52-7.

PMID:
10471498
39.

[Isotopic study with double phase 99mTc-sestamibi in the localization of parathyroid gland lesions].

Bernà L, Piera J, Rodríguez-Espinosa J, Caixàs A, Puig-Domingo M, Farrerons J, Galofré M, Rousaud F, Matías-Guiu X, Estorch M, Carrió I.

Med Clin (Barc). 1999 Feb 20;112(6):201-5. Spanish.

PMID:
10191481
40.

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

Calonge MJ, Volpini V, Bisceglia L, Rousaud F, de Sanctis L, Beccia E, Zelante L, Testar X, Zorzano A, Estivill X, et al.

Proc Natl Acad Sci U S A. 1995 Oct 10;92(21):9667-71.

41.

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, et al.

Am J Hum Genet. 1995 Oct;57(4):781-8.

42.

[Advancements in the genetics of cystinuria].

Rousaud F, Rousaud A, Nunes V, Barceló P, Palacín M.

Ann Urol (Paris). 1995;29(6-7):346-50. Review. French.

PMID:
8687170
43.

Triglyceride-rich lipoprotein abnormalities in CAPD-treated patients.

Llopart R, Doñate T, Oliva JA, Rodá M, Rousaud F, Gonzalez-Sastre F, Pedreño J, Ordoñez-Llanos J.

Nephrol Dial Transplant. 1995;10(4):537-40.

PMID:
7623998
44.

[Therapeutic alternatives to vitamin C].

Rousaud F.

Med Clin (Barc). 1994 May 14;102(18):715. Spanish. No abstract available.

PMID:
8028424
45.

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.

Calonge MJ, Gasparini P, Chillarón J, Chillón M, Gallucci M, Rousaud F, Zelante L, Testar X, Dallapiccola B, Di Silverio F, et al.

Nat Genet. 1994 Apr;6(4):420-5.

PMID:
8054986
46.

[Visceral leishmaniasis in patients infected by HIV. An AIDS diagnostic criteria?].

Rousaud F.

Rev Clin Esp. 1993 May;192(9):462. Spanish. No abstract available. Erratum in: Rev Clin Esp 1993 May;192(9):462.

PMID:
8516518

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