Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. (Record no. 18677540)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02529 a2200805 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515161219.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200907s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.20935 |
| 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 | de Pontual, Loïc |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090706 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Apr 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 669-76 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 | Abnormalities, Multiple |
| General subdivision | genetics |
| 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors |
| 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 | DNA-Binding Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dimerization |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electroencephalography |
| 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 | Gene Expression Profiling |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Expression Regulation, Developmental |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HeLa Cells |
| 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 | Hyperventilation |
| General subdivision | pathology |
| 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 | In Situ Hybridization |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intellectual Disability |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Luciferases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnetic Resonance Imaging |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reverse Transcriptase Polymerase Chain Reaction |
| 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 | Transcription Factor 4 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mathieu, Yves |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Golzio, Christelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rio, Marlène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Malan, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boddaert, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Soufflet, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Picard, Capucine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Durandy, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobbie, Angus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heron, Delphine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isidor, Bertrand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Motte, Jacques |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Newburry-Ecob, Ruth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pasquier, Laurent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tardieu, Marc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Viot, Géraldine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jaubert, Francis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Munnich, Arnold |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Colleaux, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vekemans, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Etchevers, Heather |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lyonnet, Stanislas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amiel, Jeanne |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 30 |
| -- | no. 4 |
| -- | p. 669-76 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.20935">https://doi.org/10.1002/humu.20935</a> |
| Public note | Available from publisher's website |
No items available.