Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. (Record no. 18619285)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01869 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515155129.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200910s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2008.269 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Litu |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20091008 |
| 245 00 - TITLE STATEMENT | |
| Title | Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Aug 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1010-8 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain |
| General subdivision | embryology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 5 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 8 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heart |
| General subdivision | embryology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heart Defects, Congenital |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intellectual Disability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myocardium |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proto-Oncogene Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RUNX1 Translocation Partner 1 Protein |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Translocation, Genetic |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tümer, Zeynep |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Møllgård, Kjeld |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barbi, Gotthold |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rossier, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bendsen, Eske |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Møller, Rikke Steensbjerre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ullmann, Reinhard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | He, Jian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Papadopoulos, Nickolas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tommerup, Niels |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Larsen, Lars Allan |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 17 |
| -- | no. 8 |
| -- | p. 1010-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2008.269">https://doi.org/10.1038/ejhg.2008.269</a> |
| Public note | Available from publisher's website |
No items available.