Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. (Record no. 21042692)

MARC details
000 -LEADER
fixed length control field 02231 a2200709 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516050539.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201205s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-1004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/humu.21568
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 Guo, Tingwei
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20120531
245 00 - TITLE STATEMENT
Title Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. Nov 2011
300 ## - PHYSICAL DESCRIPTION
Extent 1278-89 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Extramural
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element 22q11 Deletion Syndrome
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cardiovascular Abnormalities
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 22
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DiGeorge Syndrome
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Variation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Haplotypes
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 Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single Nucleotide
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element T-Box Domain Proteins
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name McDonald-McGinn, Donna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Blonska, Anna
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shanske, Alan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bassett, Anne S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chow, Eva
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bowser, Mark
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sheridan, Molly
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Beemer, Frits
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Devriendt, Koen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Swillen, Ann
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Breckpot, Jeroen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Digilio, Maria C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Marino, Bruno
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dallapiccola, Bruno
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Carpenter, Courtney
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zheng, Xin
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Johnson, Jacob
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chung, Jonathan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Higgins, Anne Marie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Philip, Nicole
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Simon, Tony J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Coleman, Karlene
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Heine-Suner, Damian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rosell, Jordi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kates, Wendy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Devoto, Marcella
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goldmuntz, Elizabeth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zackai, Elaine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wang, Tao
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shprintzen, Robert
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Emanuel, Beverly
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Morrow, Bernice
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 32
-- no. 11
-- p. 1278-89
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.21568">https://doi.org/10.1002/humu.21568</a>
Public note Available from publisher's website

No items available.