High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. (Record no. 25361864)
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fixed length control field | 02203 a2200685 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250517060113.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 201610s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 1468-6244 |
024 7# - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1136/jmedgenet-2015-103428 |
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 | de Kock, Leanne |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20161012 |
245 00 - TITLE STATEMENT | |
Title | High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | Journal of medical genetics |
Date of publication, distribution, etc. | Jan 2016 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 43-52 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 | 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 | Computational Biology |
General subdivision | methods |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | DEAD-box RNA Helicases |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | DNA Mutational 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 | Genetic Association Studies |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
General subdivision | methods |
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 | Loss of Heterozygosity |
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 | Mosaicism |
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 | Neoplasms, Multiple Primary |
General subdivision | diagnosis |
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 | Ribonuclease III |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Sensitivity and Specificity |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Syndrome |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wang, Yu Chang |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Revil, Timothée |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Badescu, Dunarel |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Rivera, Barbara |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Sabbaghian, Nelly |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wu, Mona |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Weber, Evan |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Sandoval, Claudio |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hopman, Saskia M J |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Merks, Johannes H M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | van Hagen, Johanna M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bouts, Antonia H M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Plager, David A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ramasubramanian, Aparna |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Forsmark, Linus |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Doyle, Kristine L |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Toler, Tonja |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Callahan, Janine |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Engelenberg, Charlotte |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bouron-Dal Soglio, Dorothée |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Priest, John R |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ragoussis, Jiannis |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Foulkes, William D |
773 0# - HOST ITEM ENTRY | |
Title | Journal of medical genetics |
Related parts | vol. 53 |
-- | no. 1 |
-- | p. 43-52 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2015-103428">https://doi.org/10.1136/jmedgenet-2015-103428</a> |
Public note | Available from publisher's website |
No items available.