A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis. (Record no. 16359618)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01583 a2200457 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515031150.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200609s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-4825 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.a.31314 |
| 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 | Donzel-Javouhey, Anne |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20060928 |
| 245 00 - TITLE STATEMENT | |
| Title | A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Jul 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1603-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Letter; Research Support, Non-U.S. Gov't |
| 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 | Cohort Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA |
| General subdivision | genetics |
| 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 Testing |
| 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 | Methyl-CpG-Binding Protein 2 |
| General subdivision | genetics |
| 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 | Rett Syndrome |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin-Robinet, Christel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cusin, Veronica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Madinier, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manceau, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dipanda, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dulieu, Véronique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mugneret, Francine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huet, Frédéric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Teyssier, Jean-Raymond |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 140 |
| -- | no. 14 |
| -- | p. 1603-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.31314">https://doi.org/10.1002/ajmg.a.31314</a> |
| Public note | Available from publisher's website |
No items available.