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| 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 : 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 : 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 : 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 |