Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature. (Record no. 12212494)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01590 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514050937.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200306s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1018-4813 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/sj.ejhg.5200879 |
| 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 | Faivre, Laurence |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20030610 |
| 245 00 - TITLE STATEMENT | |
| Title | Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Nov 2002 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 699-706 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 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 | Chromosomes, Human, Pair 15 |
| 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 | 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptor, IGF Type 1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Translocation, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Trisomy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gosset, Philippe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cormier-Daire, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Odent, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amiel, Jeanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giurgea, Irina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nassogne, Marie-Cécile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pasquier, Laurent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Munnich, Arnold |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Romana, Serge |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prieur, Marguerite |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vekemans, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Blois, Marie-Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Turleau, Catherine |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 10 |
| -- | no. 11 |
| -- | p. 699-706 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/sj.ejhg.5200879">https://doi.org/10.1038/sj.ejhg.5200879</a> |
| Public note | Available from publisher's website |
No items available.