FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. (Record no. 16612581)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01886 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515043417.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200701s 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.31487 |
| 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 | Dijkhuizen, Trijnie |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20070112 |
| 245 00 - TITLE STATEMENT | |
| Title | FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Nov 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2482-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adaptor Proteins, Signal Transducing |
| 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 | Cell Adhesion Molecules |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Adhesion Molecules, Neuronal |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Aberrations |
| 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 3 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Contactins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytogenetics |
| 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 Dosage |
| 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 | In Situ Hybridization, Fluorescence |
| 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 | Membrane Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oligonucleotide Array Sequence Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Peptide Hydrolases |
| General subdivision | genetics |
| 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 | Ubiquitin-Protein Ligases |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Essen, Ton |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Vlies, Pieter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verheij, Joke B G M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sikkema-Raddatz, Birgit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Veen, Anneke Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gerssen-Schoorl, Klasien B J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buys, Charles H C M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kok, Klaas |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 140 |
| -- | no. 22 |
| -- | p. 2482-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.31487">https://doi.org/10.1002/ajmg.a.31487</a> |
| Public note | Available from publisher's website |
No items available.