Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype. (Record no. 14966605)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02101 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514194107.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200502s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1552-4825 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/ajmg.a.30112 |
| 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 | Genesio, Rita |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050218 |
| 245 00 - TITLE STATEMENT | |
| Title | Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of medical genetics. Part A |
| Date of publication, distribution, etc. | Aug 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 422-8 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormalities, Multiple |
| General subdivision | diagnosis |
| 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 Inversion |
| 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 | Clubfoot |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytogenetic Analysis |
| 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 | Fetal Growth Retardation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heart Defects, Congenital |
| 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 | In Situ Hybridization, Fluorescence |
| 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 | Karyotyping |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kidney |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microsatellite Repeats |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Trisomy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ultrasonography, Prenatal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rita, Genesio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Brasi, Daniele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daniele, De Brasi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Conti, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anna, Conti |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Borghese, Annamaria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Annamaria, Borghese |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Micco, Pasqua |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pasqua, Di Micco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Di Costanzo, Pasquale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pasquale, Di Costanzo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paladini, Dario |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dario, Paladini |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ungaro, Paola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paola, Ungaro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nitsch, Lucio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lucio, Nitsch |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of medical genetics. Part A |
| Related parts | vol. 128A |
| -- | no. 4 |
| -- | p. 422-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/ajmg.a.30112">https://doi.org/10.1002/ajmg.a.30112</a> |
| Public note | Available from publisher's website |
No items available.