Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. (Record no. 21741780)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02059 a2200673 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516091101.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201208s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng.2262 |
| 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 | Koolen, David A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120803 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Apr 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 639-41 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 | Abnormalities, Multiple |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 17 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Facies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haploinsufficiency |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nuclear Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Smith-Magenis Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kramer, Jamie M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neveling, Kornelia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nillesen, Willy M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moore-Barton, Heather L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elmslie, Frances V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toutain, Annick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amiel, Jeanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Malan, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tsai, Anne Chun-Hui |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cheung, Sau Wai |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gilissen, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verwiel, Eugene T P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martens, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feuth, Ton |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bongers, Ernie M H F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Vries, Petra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheffer, Hans |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vissers, Lisenka E L M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Brouwer, Arjan P M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunner, Han G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veltman, Joris A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schenck, Annette |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yntema, Helger G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Vries, Bert B A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 44 |
| -- | no. 6 |
| -- | p. 639-41 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.2262">https://doi.org/10.1038/ng.2262</a> |
| Public note | Available from publisher's website |
No items available.