Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
- Author
- BETSALEL, Ofir T1 ; VAN DE KAMP, Jiddeke M2 ; SALOMONS, Gajja S1 ; MARTINEZ-MUNOZ, Cristina1 ; ROSENBERG, Efraim H1 ; DE BROUWER, Arjan P. M3 4 ; POUWELS, Petra J. W5 ; VAN DER KNAAP, Marjo S6 ; MANCINI, Grazia M. S7 ; JAKOBS, Cornelis1 ; HAMEL, Ben C. J3 4
[1] Department of Clinical Chemistry, (Metabolic Unit PKlx009), VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, Netherlands
[2] Department of Clinical Genetics, VU University Medical Center, Amsterdam, Netherlands
[3] Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands
[4] EURO-MRX consortium, Nijmegen, Netherlands
[5] Department of Physics and Medical Technology, VU University Medical Center, Amsterdam, Netherlands
[6] Department of Child Neurology, VU University Medical Center, Amsterdam, Netherlands
[7] Department of Clinical Genetics, Erasmus University MC/Sophia Children's Hospital, Rotterdam, Netherlands - Source
Neurogenetics (Oxford. Print). 2008, Vol 9, Num 3, pp 183-190, 8 p ; ref : 18 ref
- Publisher
- Springer, Berlin
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Creatine transporter deficiency Low-level somatic mosaicism .Germline mosaicism SLC6A8 X-linked mental retardation .DHPLC
- Keyword (fr)
- Arriération mentale Caractère lié au sexe Cellule somatique Chromatographie HPLC Chromosome X Créatine Déficit Détection Etude familiale Génétique Lignée germinale Maladie héréditaire Milieu familial Mosaïcisme Neurologie Pathologie du système nerveux Euro Déficience intellectuelle Trouble du développement
- Keyword (en)
- Mental retardation Sex linked character Somatic cell HPLC chromatography X-Chromosome Creatine Deficiency Detection Family study Genetics Germ line Genetic disease Family environment Mosaicism Neurology Nervous system diseases Intellectual deficiency Developmental disorder
- Keyword (es)
- Retraso mental Carácter ligado al sexo Célula somática Cromatografía HPLC Cromosoma X Creatina Déficiencia Detección Estudio familiar Genética Línea germinal Enfermedad hereditaria Medio familiar Mosaicismo Neurología Sistema nervioso patología Deficiencia intelectual Trastorno desarrollo
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A25 Vertebrates: nervous system and sense organs
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B18 Psychopathology. Psychiatry / 002B18C Adult and adolescent clinical studies / 002B18C12 Intellectual deficiency
- Francis
- 770 Psychology. Psychoanalysis. Psychiatry / 770-D Psychopathology. Psychiatry / 770-D03 Adult and adolescent clinical studies / 770-D03L Intellectual deficiency
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Molecular and cell biology Psychopathology. Psychiatry. Clinical psychology Vertebrates : nervous system and sense organs
- Origin
- Inist-CNRS
- Database
- FRANCIS ; PASCAL
- INIST identifier
- 20474178
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
Access to the document
Install on your browser
DOI
10.1007/s10048-008-0125-5 
https://dx.doi.org/10.1007/s10048-008-0125-5
"O:13:\"PanistOpenUrl\":36:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000idc\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:25:\"10.1007\/s10048-008-0125-5\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:150:\"Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency\";s:9:\"\u0000*\u0000jtitle\";s:29:\"Neurogenetics (Oxford. Print)\";s:9:\"\u0000*\u0000stitle\";s:27:\"Neurogenetics (Oxf., Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:1:\"9\";s:8:\"\u0000*\u0000issue\";s:1:\"3\";s:8:\"\u0000*\u0000spage\";s:3:\"183\";s:8:\"\u0000*\u0000epage\";s:3:\"190\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1364-6745\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"BETSALEL\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Ofir T\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:10:{i:0;s:22:\"VAN DE KAMP, Jiddeke M\";i:1;s:17:\"SALOMONS, Gajja S\";i:2;s:24:\"MARTINEZ-MUNOZ, Cristina\";i:3;s:19:\"ROSENBERG, Efraim H\";i:4;s:22:\"DE BROUWER, Arjan P. M\";i:5;s:19:\"POUWELS, Petra J. W\";i:6;s:22:\"VAN DER KNAAP, Marjo S\";i:7;s:20:\"MANCINI, Grazia M. S\";i:8;s:16:\"JAKOBS, Cornelis\";i:9;s:15:\"HAMEL, Ben C. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:150:\"Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency\";s:8:\"\u0000*\u0000place\";s:6:\"Berlin\";s:6:\"\u0000*\u0000pub\";s:8:\"Springer\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Panist access
"O:12:\"IstexOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:25:\"10.1007\/s10048-008-0125-5\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:150:\"Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency\";s:9:\"\u0000*\u0000jtitle\";s:29:\"Neurogenetics (Oxford. Print)\";s:9:\"\u0000*\u0000stitle\";s:27:\"Neurogenetics (Oxf., Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:1:\"9\";s:8:\"\u0000*\u0000issue\";s:1:\"3\";s:8:\"\u0000*\u0000spage\";s:3:\"183\";s:8:\"\u0000*\u0000epage\";s:3:\"190\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1364-6745\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"BETSALEL\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Ofir T\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:10:{i:0;s:22:\"VAN DE KAMP, Jiddeke M\";i:1;s:17:\"SALOMONS, Gajja S\";i:2;s:24:\"MARTINEZ-MUNOZ, Cristina\";i:3;s:19:\"ROSENBERG, Efraim H\";i:4;s:22:\"DE BROUWER, Arjan P. M\";i:5;s:19:\"POUWELS, Petra J. W\";i:6;s:22:\"VAN DER KNAAP, Marjo S\";i:7;s:20:\"MANCINI, Grazia M. S\";i:8;s:16:\"JAKOBS, Cornelis\";i:9;s:15:\"HAMEL, Ben C. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:150:\"Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency\";s:8:\"\u0000*\u0000place\";s:6:\"Berlin\";s:6:\"\u0000*\u0000pub\";s:8:\"Springer\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Istex access
"O:16:\"UnpaywallOpenUrl\":35:{s:8:\"\u0000*\u0000email\";s:27:\"assistance-portail@inist.fr\";s:6:\"\u0000*\u0000fmt\";N;s:6:\"\u0000*\u0000doi\";s:25:\"10.1007\/s10048-008-0125-5\";s:6:\"\u0000*\u0000pii\";N;s:7:\"\u0000*\u0000pmid\";N;s:9:\"\u0000*\u0000atitle\";N;s:9:\"\u0000*\u0000jtitle\";N;s:9:\"\u0000*\u0000stitle\";N;s:7:\"\u0000*\u0000date\";N;s:9:\"\u0000*\u0000volume\";N;s:8:\"\u0000*\u0000issue\";N;s:8:\"\u0000*\u0000spage\";N;s:8:\"\u0000*\u0000epage\";N;s:8:\"\u0000*\u0000pages\";N;s:7:\"\u0000*\u0000issn\";N;s:8:\"\u0000*\u0000eissn\";N;s:9:\"\u0000*\u0000aulast\";N;s:10:\"\u0000*\u0000aufirst\";N;s:9:\"\u0000*\u0000auinit\";N;s:10:\"\u0000*\u0000auinitm\";N;s:5:\"\u0000*\u0000au\";N;s:9:\"\u0000*\u0000aucorp\";N;s:7:\"\u0000*\u0000isbn\";N;s:8:\"\u0000*\u0000coden\";N;s:8:\"\u0000*\u0000genre\";N;s:7:\"\u0000*\u0000part\";N;s:9:\"\u0000*\u0000btitle\";N;s:8:\"\u0000*\u0000title\";N;s:8:\"\u0000*\u0000place\";N;s:6:\"\u0000*\u0000pub\";N;s:10:\"\u0000*\u0000edition\";N;s:9:\"\u0000*\u0000tpages\";N;s:9:\"\u0000*\u0000series\";N;s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";N;}"
Unpaywall access
"O:16:\"EuropePMCOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:25:\"10.1007\/s10048-008-0125-5\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:150:\"Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency\";s:9:\"\u0000*\u0000jtitle\";s:29:\"Neurogenetics (Oxford. Print)\";s:9:\"\u0000*\u0000stitle\";s:27:\"Neurogenetics (Oxf., Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:1:\"9\";s:8:\"\u0000*\u0000issue\";s:1:\"3\";s:8:\"\u0000*\u0000spage\";s:3:\"183\";s:8:\"\u0000*\u0000epage\";s:3:\"190\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1364-6745\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"BETSALEL\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Ofir T\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:10:{i:0;s:22:\"VAN DE KAMP, Jiddeke M\";i:1;s:17:\"SALOMONS, Gajja S\";i:2;s:24:\"MARTINEZ-MUNOZ, Cristina\";i:3;s:19:\"ROSENBERG, Efraim H\";i:4;s:22:\"DE BROUWER, Arjan P. M\";i:5;s:19:\"POUWELS, Petra J. W\";i:6;s:22:\"VAN DER KNAAP, Marjo S\";i:7;s:20:\"MANCINI, Grazia M. S\";i:8;s:16:\"JAKOBS, Cornelis\";i:9;s:15:\"HAMEL, Ben C. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:150:\"Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency\";s:8:\"\u0000*\u0000place\";s:6:\"Berlin\";s:6:\"\u0000*\u0000pub\";s:8:\"Springer\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Europe PubMed Central access
"O:11:\"BaseOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:25:\"10.1007\/s10048-008-0125-5\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:150:\"Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency\";s:9:\"\u0000*\u0000jtitle\";s:29:\"Neurogenetics (Oxford. Print)\";s:9:\"\u0000*\u0000stitle\";s:27:\"Neurogenetics (Oxf., Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:1:\"9\";s:8:\"\u0000*\u0000issue\";s:1:\"3\";s:8:\"\u0000*\u0000spage\";s:3:\"183\";s:8:\"\u0000*\u0000epage\";s:3:\"190\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1364-6745\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"BETSALEL\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Ofir T\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:10:{i:0;s:22:\"VAN DE KAMP, Jiddeke M\";i:1;s:17:\"SALOMONS, Gajja S\";i:2;s:24:\"MARTINEZ-MUNOZ, Cristina\";i:3;s:19:\"ROSENBERG, Efraim H\";i:4;s:22:\"DE BROUWER, Arjan P. M\";i:5;s:19:\"POUWELS, Petra J. W\";i:6;s:22:\"VAN DER KNAAP, Marjo S\";i:7;s:20:\"MANCINI, Grazia M. S\";i:8;s:16:\"JAKOBS, Cornelis\";i:9;s:15:\"HAMEL, Ben C. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:150:\"Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency\";s:8:\"\u0000*\u0000place\";s:6:\"Berlin\";s:6:\"\u0000*\u0000pub\";s:8:\"Springer\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
Base Search access
"O:12:\"ArXivOpenUrl\":35:{s:10:\"\u0000*\u0000openUrl\";N;s:6:\"\u0000*\u0000fmt\";s:7:\"journal\";s:6:\"\u0000*\u0000doi\";s:25:\"10.1007\/s10048-008-0125-5\";s:6:\"\u0000*\u0000pii\";s:0:\"\";s:7:\"\u0000*\u0000pmid\";s:0:\"\";s:9:\"\u0000*\u0000atitle\";s:150:\"Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency\";s:9:\"\u0000*\u0000jtitle\";s:29:\"Neurogenetics (Oxford. Print)\";s:9:\"\u0000*\u0000stitle\";s:27:\"Neurogenetics (Oxf., Print)\";s:7:\"\u0000*\u0000date\";s:4:\"2008\";s:9:\"\u0000*\u0000volume\";s:1:\"9\";s:8:\"\u0000*\u0000issue\";s:1:\"3\";s:8:\"\u0000*\u0000spage\";s:3:\"183\";s:8:\"\u0000*\u0000epage\";s:3:\"190\";s:8:\"\u0000*\u0000pages\";s:0:\"\";s:7:\"\u0000*\u0000issn\";s:9:\"1364-6745\";s:8:\"\u0000*\u0000eissn\";s:0:\"\";s:9:\"\u0000*\u0000aulast\";s:8:\"BETSALEL\";s:10:\"\u0000*\u0000aufirst\";s:6:\"Ofir T\";s:9:\"\u0000*\u0000auinit\";s:0:\"\";s:10:\"\u0000*\u0000auinitm\";s:0:\"\";s:5:\"\u0000*\u0000au\";a:10:{i:0;s:22:\"VAN DE KAMP, Jiddeke M\";i:1;s:17:\"SALOMONS, Gajja S\";i:2;s:24:\"MARTINEZ-MUNOZ, Cristina\";i:3;s:19:\"ROSENBERG, Efraim H\";i:4;s:22:\"DE BROUWER, Arjan P. M\";i:5;s:19:\"POUWELS, Petra J. W\";i:6;s:22:\"VAN DER KNAAP, Marjo S\";i:7;s:20:\"MANCINI, Grazia M. S\";i:8;s:16:\"JAKOBS, Cornelis\";i:9;s:15:\"HAMEL, Ben C. J\";}s:9:\"\u0000*\u0000aucorp\";s:0:\"\";s:7:\"\u0000*\u0000isbn\";s:0:\"\";s:8:\"\u0000*\u0000coden\";s:0:\"\";s:8:\"\u0000*\u0000genre\";s:7:\"article\";s:7:\"\u0000*\u0000part\";s:0:\"\";s:9:\"\u0000*\u0000btitle\";s:0:\"\";s:8:\"\u0000*\u0000title\";s:150:\"Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency\";s:8:\"\u0000*\u0000place\";s:6:\"Berlin\";s:6:\"\u0000*\u0000pub\";s:8:\"Springer\";s:10:\"\u0000*\u0000edition\";s:0:\"\";s:9:\"\u0000*\u0000tpages\";s:1:\"8\";s:9:\"\u0000*\u0000series\";s:0:\"\";s:8:\"\u0000*\u0000proxy\";s:30:\"http:\/\/proxyout.inist.fr:8080\/\";s:12:\"\u0000*\u0000integrite\";b:1;}"
arXiv access
