Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. (Record no. 19117304)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02287 a2200697 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515184134.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200909s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2009.08.001 |
| 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 | Giorda, Roberto |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090930 |
| 245 00 - TITLE STATEMENT | |
| Title | Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Sep 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 394-400 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 | Chromosomes, Human, X |
| General subdivision | genetics |
| 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 Duplication |
| 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 | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Language Development Disorders |
| General subdivision | complications |
| 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 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonaglia, M Clara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beri, Silvana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fichera, Marco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Novara, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Magini, Pamela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Urquhart, Jill |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sharkey, Freddie H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zucca, Claudio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grasso, Rita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marelli, Susan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Castiglia, Lucia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Benedetto, Daniela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Musumeci, Sebastiano A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vitello, Girolamo A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Failla, Pinella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reitano, Santina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Avola, Emanuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bisulli, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tinuper, Paolo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mastrangelo, Massimo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fiocchi, Isabella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spaccini, Luigina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Torniero, Claudia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fontana, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lynch, Sally Ann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clayton-Smith, Jill |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Black, Graeme |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jonveaux, Philippe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leheup, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seri, Marco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Romano, Corrado |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | dalla Bernardina, Bernardo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zuffardi, Orsetta |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 85 |
| -- | no. 3 |
| -- | p. 394-400 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2009.08.001">https://doi.org/10.1016/j.ajhg.2009.08.001</a> |
| Public note | Available from publisher's website |
No items available.