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Results: 1 to 20 of 116

1.

Two novel deletions in hypotonia-cystinuria syndrome.

Régal L, Aydin HI, Dieltjens AM, Van Esch H, Francois I, Okur I, Zeybek C, Meulemans S, Van Mol C, Van Bruwaene L, Then SH, Jaeken J, Creemers J.

Mol Genet Metab. 2012 Nov;107(3):614-6. doi: 10.1016/j.ymgme.2012.06.011. Epub 2012 Jun 26.

PMID:
22796000
[PubMed - indexed for MEDLINE]
2.

2p21 Deletions in hypotonia-cystinuria syndrome.

Eggermann T, Spengler S, Venghaus A, Denecke B, Zerres K, Baudis M, Ensenauer R.

Eur J Med Genet. 2012 Oct;55(10):561-3. doi: 10.1016/j.ejmg.2012.06.008. Epub 2012 Jul 17.

PMID:
22766003
[PubMed - indexed for MEDLINE]
3.

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]
4.

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
5.

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.

Bartholdi D, Asadollahi R, Oneda B, Schmitt-Mechelke T, Tonella P, Baumer A, Rauch A.

Am J Med Genet A. 2013 Aug;161A(8):1853-9. doi: 10.1002/ajmg.a.35994. Epub 2013 Jun 21.

PMID:
23794250
[PubMed - indexed for MEDLINE]
6.

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
7.

Multi-system disorder syndromes associated with cystinuria type I.

Martens K, Jaeken J, Matthijs G, Creemers JW.

Curr Mol Med. 2008 Sep;8(6):544-50. Review.

PMID:
18781961
[PubMed - indexed for MEDLINE]
8.

Chromosomal microdeletions and genes' functions: a cluster of chromosomal microdeletions and the deleted genes' functions.

Parvari R, Hershkovitz E.

Eur J Hum Genet. 2007 Oct;15(10):997-8. Epub 2007 Jul 11. No abstract available.

PMID:
17625506
[PubMed - indexed for MEDLINE]
Free Article
9.

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

Régal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG.

Neurology. 2014 Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7.

PMID:
24610330
[PubMed - indexed for MEDLINE]
10.

Re: further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.

Assimos DG.

J Urol. 2014 Mar;191(3):679-80. doi: 10.1016/j.juro.2013.11.035. Epub 2013 Nov 23. No abstract available.

PMID:
24522044
[PubMed - indexed for MEDLINE]
11.

A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease.

Parvari R, Brodyansky I, Elpeleg O, Moses S, Landau D, Hershkovitz E.

Am J Hum Genet. 2001 Oct;69(4):869-75. Epub 2001 Aug 24.

PMID:
11524703
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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]
13.

Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence.

Magen S, Magnani R, Haziza S, Hershkovitz E, Houtz R, Cambi F, Parvari R.

PLoS One. 2012;7(12):e52425. doi: 10.1371/journal.pone.0052425. Epub 2012 Dec 20.

PMID:
23285036
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Cystinuria: an inborn cause of urolithiasis.

Eggermann T, Venghaus A, Zerres K.

Orphanet J Rare Dis. 2012 Apr 5;7:19. doi: 10.1186/1750-1172-7-19. Review.

PMID:
22480232
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.

Di Perna M, Louizou E, Fischetti L, Dedoussis GV, Stanziale P, Michelakakis H, Zelante L, Pras E, Bisceglia L.

Genet Test. 2008 Sep;12(3):351-5. doi: 10.1089/gte.2007.0113.

PMID:
18752446
[PubMed - indexed for MEDLINE]
16.

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.

Eggermann T.

Hum Genet. 2009 Aug;126(2):329. No abstract available.

PMID:
19693991
[PubMed - indexed for MEDLINE]
17.

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Dedoussis G, Louzou E, Michelekakis H, Komianou F, di Perna M, Bisceglia L.

Hum Genet. 2007 Sep;122(2):215. No abstract available.

PMID:
18386384
[PubMed - indexed for MEDLINE]
18.

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.

Eggermann T.

Hum Genet. 2009 Aug;126(2):330. doi: 10.1007/s00439-009-0685-y. No abstract available.

PMID:
19495797
[PubMed - indexed for MEDLINE]
19.

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]
20.

Novel human pathological mutations. Gene symbol: SLC3A1. Disease: Cystinuria.

Chatzikyriakidou A, Kollios KD, Georgiou I.

Hum Genet. 2009 Aug;126(2):335. No abstract available.

PMID:
19694006
[PubMed - indexed for MEDLINE]

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