Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. (Record no. 17672006)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01619 a2200481 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515102925.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200801s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1424-859X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1159/000109634 |
| 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 | Bartsch, O |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080118 |
| 245 00 - TITLE STATEMENT | |
| Title | Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Cytogenetic and genome research |
| Date of publication, distribution, etc. | 2007 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 158-64 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 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 | 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 | Chromosomes, Human, Pair 17 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 7 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytogenetics |
| 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 | In Situ Hybridization, Fluorescence |
| 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 | Neurofibromatoses |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oligonucleotide Array Sequence Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Telomere |
| General subdivision | classification |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vlcková, Z |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Erdogan, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ullmann, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Novotná, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spiegel, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beyer, V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haaf, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zechner, U |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seemanová, E |
| 773 0# - HOST ITEM ENTRY | |
| Title | Cytogenetic and genome research |
| Related parts | vol. 119 |
| -- | no. 1-2 |
| -- | p. 158-64 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1159/000109634">https://doi.org/10.1159/000109634</a> |
| Public note | Available from publisher's website |
No items available.