De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. (Record no. 24987232)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01993 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517035517.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201606s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-4833 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.a.37189 |
| 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 | Parker, Michael J |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160614 |
| 245 00 - TITLE STATEMENT | |
| Title | De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Oct 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2231-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Constipation |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsies, Myoclonic |
| General subdivision | diagnosis |
| 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 | Gait Disorders, Neurologic |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Expression |
| 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 | Heterozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hip Dislocation |
| General subdivision | diagnosis |
| 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 | diagnosis |
| 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 | Muscle Hypotonia |
| General subdivision | diagnosis |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Strabismus |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Twins, Monozygotic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | ras GTPase-Activating Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fryer, Alan E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shears, Deborah J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lachlan, Katherine L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McKee, Shane A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Magee, Alex C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mohammed, Shehla |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vasudevan, Pradeep C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Park, Soo-Mi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benoit, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lederer, Damien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maystadt, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Study, Ddd |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | FitzPatrick, David R |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 167A |
| -- | no. 10 |
| -- | p. 2231-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.37189">https://doi.org/10.1002/ajmg.a.37189</a> |
| Public note | Available from publisher's website |
No items available.