De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. (Record no. 26618500)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 02130 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517124619.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201710s 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.38034 |
| 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 | Dennert, Nicola |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171024 |
| 245 00 - TITLE STATEMENT | |
| Title | De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Feb 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 435-443 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Review |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain |
| General subdivision | abnormalities |
| 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 | Comparative Genomic Hybridization |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eye Abnormalities |
| General subdivision | diagnosis |
| 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 | Genetic Association Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
| 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 | Infant, Newborn |
| 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 | Magnetic Resonance Imaging |
| General subdivision | methods |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Registries |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | SOXB1 Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Engels, Hartmut |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cremer, Kirsten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Becker, Jessica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wohlleber, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Albrecht, Beate |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ehret, Julia K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lüdecke, Hermann-Josef |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Suri, Mohnish |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carignani, Giulia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Renieri, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kukuk, Guido M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieland, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Andrieux, Joris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Strom, Tim M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wieczorek, Dagmar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dieux-Coëslier, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zink, Alexander M |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 173 |
| -- | no. 2 |
| -- | p. 435-443 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.38034">https://doi.org/10.1002/ajmg.a.38034</a> |
| Public note | Available from publisher's website |
No items available.