CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. (Record no. 19855871)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02033 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515224432.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201008s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-4833 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.a.33453 |
| 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 | Romanelli, Valeria |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100830 |
| 245 00 - TITLE STATEMENT | |
| Title | CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Jun 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1390-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review |
| 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 | Beckwith-Wiedemann Syndrome |
| 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 | Cyclin-Dependent Kinase Inhibitor p57 |
| General subdivision | chemistry |
| 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 | Genotype |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 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 | Polymorphism, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Conformation |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Belinchón, Alberta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benito-Sanz, Sara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martínez-Glez, Victor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gracia-Bouthelier, Ricardo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heath, Karen E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Campos-Barros, Angel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | García-Miñaur, Sixto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fernandez, Luís |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meneses, Heloisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | López-Siguero, Juan Pedro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guillén-Navarro, Encarna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gómez-Puertas, Paulino |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wesselink, Jan-Jaap |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mercado, Graciela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Esteban-Marfil, Victoria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Palomo, Rebeca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mena, Rocío |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sánchez, Aurora |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Del Campo, Miguel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lapunzina, Pablo |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 152A |
| -- | no. 6 |
| -- | p. 1390-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.33453">https://doi.org/10.1002/ajmg.a.33453</a> |
| Public note | Available from publisher's website |
No items available.