Full name :
First name :
Mail :
Zip Code :
City :
Country :
Email :
Phone :
Fax :
Website :
Directory :
Title : Two novel deletions in hypotonia-cystinuria syndrome - Regal_2012_Mol.Genet.Metab_107_614 |
Author(s) : Regal 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 |
Ref : Mol Genet Metab , 107 :614 , 2012 |
Abstract : Regal_2012_Mol.Genet.Metab_107_614 |
ESTHER : Regal_2012_Mol.Genet.Metab_107_614 |
PubMedSearch : Regal_2012_Mol.Genet.Metab_107_614 |
PubMedID: 22796000 |
Gene_locus related to this paper: human-PREPL |
Title : PREPL, a prolyl endopeptidase-like enzyme by name only?--Lessons from patients - Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355 |
Author(s) : Boonen K , Regal L , Jaeken J , Creemers JW |
Ref : CNS Neurol Disord Drug Targets , 10 :355 , 2011 |
Abstract : Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355 |
ESTHER : Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355 |
PubMedSearch : Boonen_2011_CNS.Neurol.Disord.Drug.Targets_10_355 |
PubMedID: 21222627 |
Gene_locus related to this paper: human-PREPL |
Title : Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome - Chabrol_2009_BMJ.Case.Rep_2009_ |
Author(s) : Chabrol B , Martens K , Meulemans S , Cano A , Jaeken J , Matthijs G , Creemers JW |
Ref : BMJ Case Rep , 2009 : , 2009 |
Abstract : Chabrol_2009_BMJ.Case.Rep_2009_ |
ESTHER : Chabrol_2009_BMJ.Case.Rep_2009_ |
PubMedSearch : Chabrol_2009_BMJ.Case.Rep_2009_ |
PubMedID: 21686663 |
Title : Multi-system disorder syndromes associated with cystinuria type I - Martens_2008_Curr.Mol.Med_8_544 |
Author(s) : Martens K , Jaeken J , Matthijs G , Creemers JW |
Ref : Curr Mol Med , 8 :544 , 2008 |
Abstract : Martens_2008_Curr.Mol.Med_8_544 |
ESTHER : Martens_2008_Curr.Mol.Med_8_544 |
PubMedSearch : Martens_2008_Curr.Mol.Med_8_544 |
PubMedID: 18781961 |
Gene_locus related to this paper: human-PREPL |
Title : Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome - Chabrol_2008_J.Med.Genet_45_314 |
Author(s) : Chabrol B , Martens K , Meulemans S , Cano A , Jaeken J , Matthijs G , Creemers JW |
Ref : Journal of Medical Genetics , 45 :314 , 2008 |
Abstract : Chabrol_2008_J.Med.Genet_45_314 |
ESTHER : Chabrol_2008_J.Med.Genet_45_314 |
PubMedSearch : Chabrol_2008_J.Med.Genet_45_314 |
PubMedID: 18234729 |
Gene_locus related to this paper: human-PREPL |
Title : Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome - Martens_2007_Eur.J.Hum.Genet_15_1029 |
Author(s) : Martens K , Heulens I , Meulemans S , Zaffanello M , Tilstra D , Hes FJ , Rooman R , Francois I , de Zegher F , Jaeken J , Matthijs G , Creemers JW |
Ref : Eur J Hum Genet , 15 :1029 , 2007 |
Abstract : Martens_2007_Eur.J.Hum.Genet_15_1029 |
ESTHER : Martens_2007_Eur.J.Hum.Genet_15_1029 |
PubMedSearch : Martens_2007_Eur.J.Hum.Genet_15_1029 |
PubMedID: 17579669 |
Gene_locus related to this paper: human-PREPL |
Title : PREPL: a putative novel oligopeptidase propelled into the limelight - Martens_2006_Biol.Chem_387_879 |
Author(s) : Martens K , Derua R , Meulemans S , Waelkens E , Jaeken J , Matthijs G , Creemers JW |
Ref : Biol Chem , 387 :879 , 2006 |
Abstract : Martens_2006_Biol.Chem_387_879 |
ESTHER : Martens_2006_Biol.Chem_387_879 |
PubMedSearch : Martens_2006_Biol.Chem_387_879 |
PubMedID: 16913837 |
Gene_locus related to this paper: human-PREPL |
Title : Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome - Jaeken_2006_Am.J.Hum.Genet_78_38 |
Author(s) : 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 |
Ref : American Journal of Human Genetics , 78 :38 , 2006 |
Abstract : Jaeken_2006_Am.J.Hum.Genet_78_38 |
ESTHER : Jaeken_2006_Am.J.Hum.Genet_78_38 |
PubMedSearch : Jaeken_2006_Am.J.Hum.Genet_78_38 |
PubMedID: 16385448 |
Gene_locus related to this paper: human-PREPL |