Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. (Record no. 21026062)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 03344 a2201117 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516045943.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201202s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1553-7404 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1371/journal.pgen.1002173 |
| 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 | Bonaglia, Maria Clara |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120221 |
| 245 00 - TITLE STATEMENT | |
| Title | Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | PLoS genetics |
| Date of publication, distribution, etc. | Jul 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e1002173 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 | 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 | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aged, 80 and over |
| 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 | 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 | Chromosome Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 22 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Comparative Genomic Hybridization |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant, Newborn |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Parents |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ring Chromosomes |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 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 | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giorda, Roberto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beri, Silvana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Agostini, Cristina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Novara, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fichera, Marco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grillo, Lucia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Galesi, Ornella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vetro, Annalisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ciccone, Roberto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonati, Maria Teresa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giglio, Sabrina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guerrini, Renzo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Osimani, Sara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marelli, Susan |
| 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 | Borgatti, Renato |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mani, Elisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Motta, Cristina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Molteni, Massimo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Romano, Corrado |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Greco, Donatella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reitano, Santina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baroncini, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lapi, Elisabetta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cecconi, Antonella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arrigo, Giulia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Patricelli, Maria Grazia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pantaleoni, Chiara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | D'Arrigo, Stefano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riva, Daria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sciacca, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dalla Bernardina, Bernardo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zoccante, Leonardo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Darra, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Termine, Cristiano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maserati, Emanuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bigoni, Stefania |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Priolo, Emanuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bottani, Armand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gimelli, Stefania |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bena, Frederique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brusco, Alfredo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | di Gregorio, Eleonora |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bagnasco, Irene |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giussani, Ursula |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nitsch, Lucio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Politi, Pierluigi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martinez-Frias, Maria Luisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martínez-Fernández, Maria Luisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martínez Guardia, Nieves |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bremer, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anderlid, Britt-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zuffardi, Orsetta |
| 773 0# - HOST ITEM ENTRY | |
| Title | PLoS genetics |
| Related parts | vol. 7 |
| -- | no. 7 |
| -- | p. e1002173 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1371/journal.pgen.1002173">https://doi.org/10.1371/journal.pgen.1002173</a> |
| Public note | Available from publisher's website |
No items available.