Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*). (Record no. 23447929)

MARC details
000 -LEADER
fixed length control field 01985 a2200565 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516191847.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201407s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1945-7197
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1210/jc.2013-3486
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 Bickmann, Julia K
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20140714
245 00 - TITLE STATEMENT
Title Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. The Journal of clinical endocrinology and metabolism
Date of publication, distribution, etc. Mar 2014
300 ## - PHYSICAL DESCRIPTION
Extent E489-96 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 Arginine
General subdivision genetics
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 Heterogeneity
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Predisposition to Disease
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Germ-Line Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Glomus Jugulare Tumor
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Head and Neck Neoplasms
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Heart Neoplasms
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 Loss of Heterozygosity
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Lumbar Vertebrae
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 Membrane Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Paraganglioma
General subdivision genetics
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 Risk Factors
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Spinal Neoplasms
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sollfrank, Stefanie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schad, Arno
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Musholt, Thomas J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Springer, Erik
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Miederer, Matthias
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bartsch, Oliver
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Papaspyrou, Konstantinos
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Koutsimpelas, Dimitrios
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mann, Wolf J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Weber, Matthias M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lackner, Karl J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rossmann, Heidi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fottner, Christian
773 0# - HOST ITEM ENTRY
Title The Journal of clinical endocrinology and metabolism
Related parts vol. 99
-- no. 3
-- p. E489-96
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1210/jc.2013-3486">https://doi.org/10.1210/jc.2013-3486</a>
Public note Available from publisher's website

No items available.