142 related articles for article (PubMed ID: 21686663)
1. 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
BMJ Case Rep; 2009; 2009():. PubMed ID: 21686663
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 18234729
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 23794250
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 18781961
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 16385448
[TBL] [Abstract][Full Text] [Related]
6. PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
Régal L; Mårtensson E; Maystadt I; Voermans N; Lederer D; Burlina A; Juan Fita MJ; Hoogeboom AJM; Olsson Engman M; Hollemans T; Schouten M; Meulemans S; Jonson T; François I; Gil Ortega D; Kamsteeg EJ; Creemers JWM
Genet Med; 2018 Jan; 20(1):109-118. PubMed ID: 28726805
[TBL] [Abstract][Full Text] [Related]
7. 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; 82(14):1254-60. PubMed ID: 24610330
[TBL] [Abstract][Full Text] [Related]
8. First cardiac manifestation of hypotonia-cystinuria syndrome.
Kılıç M; Ceylan AC; Örün UA; Kılıç E
Metab Brain Dis; 2018 Aug; 33(4):1375-1379. PubMed ID: 29627929
[TBL] [Abstract][Full Text] [Related]
9. The 2p21 deletion syndrome: characterization of the transcription content.
Parvari R; Gonen Y; Alshafee I; Buriakovsky S; Regev K; Hershkovitz E
Genomics; 2005 Aug; 86(2):195-211. PubMed ID: 15913950
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 17579669
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 22766003
[TBL] [Abstract][Full Text] [Related]
12. A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement.
Taroni F; Capone V; Berrettini A; De Marco EA; Manzoni GA; Montini G
Front Pediatr; 2019; 7():127. PubMed ID: 31024870
[TBL] [Abstract][Full Text] [Related]
13. Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression.
Towheed A; Hietanen CL; Kamath VG; Singh LN; Ho A; Engelstad K; Cornett K; Montes J; De Vivo D
Ann Clin Transl Neurol; 2021 Nov; 8(11):2199-2204. PubMed ID: 34612606
[TBL] [Abstract][Full Text] [Related]
14. Deletion of PREPl causes growth impairment and hypotonia in mice.
Lone AM; Leidl M; McFedries AK; Horner JW; Creemers J; Saghatelian A
PLoS One; 2014; 9(2):e89160. PubMed ID: 24586561
[TBL] [Abstract][Full Text] [Related]
15. PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients.
Boonen K; Régal L; Jaeken J; Creemers JW
CNS Neurol Disord Drug Targets; 2011 May; 10(3):355-60. PubMed ID: 21222627
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 22796000
[TBL] [Abstract][Full Text] [Related]
17. Cystinuria: an inborn cause of urolithiasis.
Eggermann T; Venghaus A; Zerres K
Orphanet J Rare Dis; 2012 Apr; 7():19. PubMed ID: 22480232
[TBL] [Abstract][Full Text] [Related]
18. PREPL: a putative novel oligopeptidase propelled into the limelight.
Martens K; Derua R; Meulemans S; Waelkens E; Jaeken J; Matthijs G; Creemers JW
Biol Chem; 2006 Jul; 387(7):879-83. PubMed ID: 16913837
[TBL] [Abstract][Full Text] [Related]
19. Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.
Schmidt C; Vester U; Wagner CA; Lahme S; Hesse A; Hoyer P; Lang F; Zerres K; Eggermann T;
Kidney Int; 2003 Nov; 64(5):1564-72. PubMed ID: 14531788
[TBL] [Abstract][Full Text] [Related]
20. Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair.
Huang CC; Chang WS
BMC Mol Biol; 2009 Jul; 10():67. PubMed ID: 19575798
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]