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Results: 1 to 20 of 48

1.

Clinical utility gene card for: Cystinuria.

Eggermann T, Zerres K, Nunes V, Font-Llitjós M, Bisceglia L, Chatzikyriakidou A, dello Strologo L, Pras E, Creemers J, Palacin M.

Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.163. Epub 2011 Aug 24. No abstract available.

PMID:
21863055
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.

Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, Mota Mdo C, Dias C, Rodrigues-Santos P, Fortuna AM, Quelhas D, Lacerda L, Bisceglia L, Cardoso ML.

Clin Genet. 2012 Jan;81(1):47-55. doi: 10.1111/j.1399-0004.2011.01638.x. Epub 2011 Feb 14.

PMID:
21255007
[PubMed - indexed for MEDLINE]
3.

Pathophysiology and treatment of cystinuria.

Chillarón J, Font-Llitjós M, Fort J, Zorzano A, Goldfarb DS, Nunes V, Palacín M.

Nat Rev Nephrol. 2010 Jul;6(7):424-34. doi: 10.1038/nrneph.2010.69. Epub 2010 Jun 1. Review.

PMID:
20517292
[PubMed - indexed for MEDLINE]
4.

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

Bisceglia L, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L.

Mol Genet Metab. 2010 Jan;99(1):42-52. doi: 10.1016/j.ymgme.2009.09.001. Epub .

PMID:
19782624
[PubMed - indexed for MEDLINE]
5.

Identification of novel cystinuria mutations in pediatric patients.

Brauers E, Hozyasz K, Golabek B, Slowik M, Schmidt C, Vester U, Zerres K, Eggermann T.

J Pediatr Urol. 2006 Dec;2(6):575-8. doi: 10.1016/j.jpurol.2005.11.011. Epub 2006 Jan 19.

PMID:
18947684
[PubMed]
6.

Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.

Chabrol B, Martens K, Meulemans S, Cano A, Jaeken J, Matthijs G, Creemers JW.

J Med Genet. 2008 May;45(5):314-8. doi: 10.1136/jmg.2007.055475. Epub 2008 Jan 30.

PMID:
18234729
[PubMed - indexed for MEDLINE]
7.

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.

Martens K, Heulens I, Meulemans S, Zaffanello M, Tilstra D, Hes FJ, Rooman R, François I, de Zegher F, Jaeken J, Matthijs G, Creemers JW.

Eur J Hum Genet. 2007 Oct;15(10):1029-33. Epub 2007 Jun 20.

PMID:
17579669
[PubMed - indexed for MEDLINE]
Free Article
8.

Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.

Eggermann T, Elbracht M, Haverkamp F, Schmidt C, Zerres K.

Clin Genet. 2007 Jun;71(6):597-8. No abstract available.

PMID:
17539912
[PubMed - indexed for MEDLINE]
9.

Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers.

Chatzikyriakidou A, Sofikitis N, Kalfakakou V, Siamopoulos K, Georgiou I.

Urol Res. 2006 Oct;34(5):299-303. Epub 2006 Jul 13.

PMID:
16838140
[PubMed - indexed for MEDLINE]
10.

A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

Shigeta Y, Kanai Y, Chairoungdua A, Ahmed N, Sakamoto S, Matsuo H, Kim DK, Fujimura M, Anzai N, Mizoguchi K, Ueda T, Akakura K, Ichikawa T, Ito H, Endou H.

Kidney Int. 2006 Apr;69(7):1198-206.

PMID:
16609684
[PubMed - indexed for MEDLINE]
11.

Search for mutations in SLC1A5 (19q13) in cystinuria patients.

Brauers E, Vester U, Zerres K, Eggermann T.

J Inherit Metab Dis. 2005;28(6):1169-71.

PMID:
16435221
[PubMed - indexed for MEDLINE]
12.

Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.

Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G.

Am J Hum Genet. 2006 Jan;78(1):38-51. Epub 2005 Nov 23.

PMID:
16385448
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria.

Yuen YP, Lam CW, Lai CK, Tong SF, Li PS, Tam S, Kwan EY, Chan SY, Tsang WK, Chan KY, Mak WL, Cheng CW, Chan YW.

Kidney Int. 2006 Jan;69(1):123-8.

PMID:
16374432
[PubMed - indexed for MEDLINE]
14.

Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients.

Chatzikyriakidou A, Sofikitis N, Georgiou I.

Genet Test. 2005 Fall;9(3):175-84.

PMID:
16225397
[PubMed - indexed for MEDLINE]
15.

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

Skopková Z, Hrabincová E, Stástná S, Kozák L, Adam T.

Ann Hum Genet. 2005 Sep;69(Pt 5):501-7.

PMID:
16138908
[PubMed - indexed for MEDLINE]
16.

Identification of novel SLC3A1 gene mutations in Spanish cystinuria families and association with clinical phenotypes.

Guillén M, Corella D, Cabello ML, González JI, Sabater A, Chaves JF, Hernández-Yago J.

Clin Genet. 2005 Mar;67(3):240-51. Erratum in: Clin Genet. 2005 May;67(5):450.

PMID:
15691362
[PubMed - indexed for MEDLINE]
17.

Transient neonatal cystinuria.

Boutros M, Vicanek C, Rozen R, Goodyer P.

Kidney Int. 2005 Feb;67(2):443-8.

PMID:
15673291
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
15635077
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

The amino acid transporter asc-1 is not involved in cystinuria.

Pineda M, Font M, Bassi MT, Manzoni M, Borsani G, Marigo V, Fernández E, Río RM, Purroy J, Zorzano A, Nunes V, Palacín M.

Kidney Int. 2004 Oct;66(4):1453-64.

PMID:
15458438
[PubMed - indexed for MEDLINE]
20.

No evidence for a role of SLC7A10 in 19q13 in the etiology of cystinuria.

Schmidt C, Vester U, Zerres K, Eggermann T.

Clin Nephrol. 2004 Jul;62(1):71-3. No abstract available.

PMID:
15267019
[PubMed - indexed for MEDLINE]

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