dc.contributor.author | Ilyana, H. | |
dc.contributor.author | Baumer, A. | |
dc.contributor.author | Chrzanowska, K. H. | |
dc.contributor.author | Lurie, I. W. | |
dc.contributor.author | Schinzel, A. | |
dc.contributor.author | Kayserili, H. | |
dc.contributor.author | Bartholdi, D. | |
dc.contributor.author | Krajewska-Walasek, M. | |
dc.contributor.author | Ounap, K. | |
dc.contributor.author | Gaspar, H. | |
dc.date.accessioned | 2021-03-05T21:47:01Z | |
dc.date.available | 2021-03-05T21:47:01Z | |
dc.date.issued | 2009 | |
dc.identifier.citation | Bartholdi D., Krajewska-Walasek M., Ounap K., Gaspar H., Chrzanowska K. H. , Ilyana H., Kayserili H., Lurie I. W. , Schinzel A., Baumer A., "Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes", JOURNAL OF MEDICAL GENETICS, cilt.46, ss.192-197, 2009 | |
dc.identifier.issn | 0022-2593 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_da8ee64c-a83d-4a64-bd26-50788984847a | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/144084 | |
dc.identifier.uri | https://doi.org/10.1136/jmg.2008.061820 | |
dc.description.abstract | Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous condition characterised by severe intrauterine and postnatal growth retardation. Loss of DNA methylation at the telomeric imprinting control region 1 (ICR1) on 11p15 is an important cause of SRS. | |
dc.language.iso | eng | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Tıp | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Yaşam Bilimleri | |
dc.title | Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes | |
dc.type | Makale | |
dc.relation.journal | JOURNAL OF MEDICAL GENETICS | |
dc.contributor.department | İstanbul Üniversitesi , , | |
dc.identifier.volume | 46 | |
dc.identifier.issue | 3 | |
dc.identifier.startpage | 192 | |
dc.identifier.endpage | 197 | |
dc.contributor.firstauthorID | 191852 | |