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| | 1 - 10 of 105 journal articles in the PubMed database | Email to a friend | | |
| Martens K, Jaeken J, Matthijs G, et al.
Multi-system disorder syndromes associated with cystinuria type I. [Journal Article]
Curr Mol Med 2008 Sep; 8(6):544-50.
Abstract | Full Citation | Find Related Articles | | Chabrol B, Martens K, Meulemans S, et al.
Deletion of C2orf34, PREPL and SLC3A1 causes atypical Hypotonia-Cystinuria Syndrome. [JOURNAL ARTICLE]
J Med Genet 2008 Jan 30.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Jaeken J, Martens K, Francois I, et al.
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. [Journal Article]
Am J Hum Genet 2006 Jan; 78(1):38-51.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Martens K, Heulens I, Meulemans S, et al.
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. [JOURNAL ARTICLE]
Eur J Hum Genet 2007 Jun 20.
Abstract | Full Citation | | Parvari R, Gonen Y, Alshafee I, et al.
The 2p21 deletion syndrome: characterization of the transcription content. [Journal Article]
Genomics 2005 Aug; 86(2):195-211.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Parvari R, Brodyansky I, Elpeleg O, et al.
A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease. [Journal Article]
Am J Hum Genet 2001 Oct; 69(4):869-75.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Parvari R, Hershkovitz E
Chromosomal Microdeletions and Genes Functions: A cluster of chromosomal microdeletions and the deleted genes functions. [JOURNAL ARTICLE]
Eur J Hum Genet 2007 Jul 11.
Full Citation | Publisher Full Text | Find Related Articles | | Skopková Z, Hrabincová E, Stástná S, et al.
Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. [Journal Article]
Ann Hum Genet 2005 Sep; 69(Pt 5):501-7.
Abstract | Full Citation | Find Related Articles | | Leclerc D, Boutros M, Suh D, et al.
SLC7A9 mutations in all three cystinuria subtypes. [Journal Article]
Kidney Int 2002 Nov; 62(5):1550-9.
Abstract | Full Citation | Publisher Full Text | Find Related Articles |   |
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