Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. (Record no. 14456170)
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| fixed length control field | 02253 a2200661 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514165629.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200402s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmg.2003.014761 |
| 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 | Venturin, M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20040224 |
| 245 00 - TITLE STATEMENT | |
| Title | Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Jan 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 35-41 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Letter; Multicenter Study; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Acid Sensing Ion Channels |
| 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 | Cardiovascular Abnormalities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 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 | 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 | Degenerin Sodium Channels |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epithelial Sodium Channels |
| 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 | GTPase-Activating Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| 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 | Intellectual Disability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ion Channels |
| 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 | Membrane Glycoproteins |
| 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 | Membrane Transport Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myelin Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myelin-Associated Glycoprotein |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myelin-Oligodendrocyte Glycoprotein |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neoplasm Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nerve Tissue Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurofibromatosis 1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Serotonin Plasma Membrane Transport Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guarnieri, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Natacci, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stabile, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tenconi, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clementi, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hernandez, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thompson, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Upadhyaya, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Larizza, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riva, P |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 41 |
| -- | no. 1 |
| -- | p. 35-41 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmg.2003.014761">https://doi.org/10.1136/jmg.2003.014761</a> |
| Public note | Available from publisher's website |
No items available.