High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. (Record no. 25361864)

MARC details
000 -LEADER
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.