Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. (Record no. 24394679)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02503 a2200709 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517003950.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201501s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2014.10.006 |
| 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 | Carvalho, Claudia M B |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150126 |
| 245 00 - TITLE STATEMENT | |
| Title | Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Nov 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 565-78 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; 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 | Acyl-CoA Dehydrogenase, Long-Chain |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adaptor Proteins, Signal Transducing |
| General subdivision | genetics |
| 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 | Apoptosis Regulatory Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Asialoglycoprotein Receptor |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Line |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Breakpoints |
| 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 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dishevelled Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Flow Cytometry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Dosage |
| 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 | Immunohistochemistry |
| 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 | Microcephaly |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microtubule-Associated Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phosphoproteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retrospective Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zebrafish |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vasanth, Shivakumar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shinawi, Marwan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Russell, Chad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ramocki, Melissa B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brown, Chester W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Graakjaer, Jesper |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Skytte, Anne-Bine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vianna-Morgante, Angela M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krepischi, Ana C V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Patel, Gayle S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Immken, LaDonna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aleck, Kyrieckos |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lim, Cynthia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cheung, Sau Wai |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rosenberg, Carla |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Katsanis, Nicholas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lupski, James R |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 95 |
| -- | no. 5 |
| -- | p. 565-78 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2014.10.006">https://doi.org/10.1016/j.ajhg.2014.10.006</a> |
| Public note | Available from publisher's website |
No items available.