Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. (Record no. 25953769)

MARC details
000 -LEADER
fixed length control field 02286 a2200733 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517092459.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201705s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1537-6605
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ajhg.2016.03.004
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 Gerber, Sylvie
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170515
245 00 - TITLE STATEMENT
Title Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. May 2016
300 ## - PHYSICAL DESCRIPTION
Extent 971-980 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
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 Aniridia
General subdivision etiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cerebellar Ataxia
General subdivision etiology
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 Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Dominant
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genes, Recessive
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 Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant, Newborn
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Inositol 1,4,5-Trisphosphate Receptors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Intellectual Disability
General subdivision etiology
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 Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Alzayady, Kamil J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Burglen, Lydie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brémond-Gignac, Dominique
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Marchesin, Valentina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Roche, Olivier
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rio, Marlène
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Funalot, Benoit
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Calmon, Raphaël
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Durr, Alexandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gil-da-Silva-Lopes, Vera Lucia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ribeiro Bittar, Maria Fernanda
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Orssaud, Christophe
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Héron, Bénédicte
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ayoub, Edward
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Berquin, Patrick
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bahi-Buisson, Nadia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bole, Christine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Masson, Cécile
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Munnich, Arnold
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Simons, Matias
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Delous, Marion
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dollfus, Helene
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boddaert, Nathalie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lyonnet, Stanislas
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kaplan, Josseline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Calvas, Patrick
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yule, David I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rozet, Jean-Michel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fares Taie, Lucas
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 98
-- no. 5
-- p. 971-980
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2016.03.004">https://doi.org/10.1016/j.ajhg.2016.03.004</a>
Public note Available from publisher's website

No items available.