Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. (Record no. 16661629)

MARC details
000 -LEADER
fixed length control field 01655 a2200493 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515045058.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200612s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-4275
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1542/peds.2006-0395
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 Friez, Michael J
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20061219
245 00 - TITLE STATEMENT
Title Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Pediatrics
Date of publication, distribution, etc. Dec 2006
300 ## - PHYSICAL DESCRIPTION
Extent e1687-95 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adolescent
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 Chromosomes, Human, X
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 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 Intellectual Disability
General subdivision genetics
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 Methyl-CpG-Binding Protein 2
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscle Hypotonia
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Recurrence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Respiratory Tract Infections
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jones, Julie R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Clarkson, Katie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lubs, Herbert
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abuelo, Dianne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bier, Jo-Ann Blaymore
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pai, Shashidhar
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Simensen, Richard
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Williams, Charles
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Giampietro, Philip F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwartz, Charles E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stevenson, Roger E
773 0# - HOST ITEM ENTRY
Title Pediatrics
Related parts vol. 118
-- no. 6
-- p. e1687-95
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1542/peds.2006-0395">https://doi.org/10.1542/peds.2006-0395</a>
Public note Available from publisher's website

No items available.