Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. (Record no. 25967994)

MARC details
000 -LEADER
fixed length control field 03257 a2201033 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517092931.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201702s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1932-6203
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1371/journal.pone.0153757
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 Ansari, Morad
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170221
245 00 - TITLE STATEMENT
Title Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. PloS one
Date of publication, distribution, etc. 2016
300 ## - PHYSICAL DESCRIPTION
Extent e0153757 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 Aniridia
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cerebellar Ataxia
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 11
General subdivision genetics
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 Comparative Genomic Hybridization
General subdivision methods
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 Forkhead Transcription Factors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element GTPase-Activating Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Testing
General subdivision methods
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Histone Deacetylases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homeodomain Proteins
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 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 Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element PAX6 Transcription Factor
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Transcription Factors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Homeobox Protein PITX2
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rainger, Jacqueline
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hanson, Isabel M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Williamson, Kathleen A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sharkey, Freddie
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Harewood, Louise
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sandilands, Angela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Clayton-Smith, Jill
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Personal name Dollfus, Helene
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Personal name Bitoun, Pierre
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meire, Francoise
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Personal name Fantes, Judy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Franco, Brunella
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Personal name Lorenz, Birgit
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Taylor, David S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stewart, Fiona
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Willoughby, Colin E
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Personal name McEntagart, Meriel
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Personal name Khaw, Peng Tee
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Personal name Clericuzio, Carol
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Personal name Van Maldergem, Lionel
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Personal name Williams, Denise
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Personal name Newbury-Ecob, Ruth
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Traboulsi, Elias I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Silva, Eduardo D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Madlom, Mukhlis M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goudie, David R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fleck, Brian W
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Personal name Wieczorek, Dagmar
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Personal name Kohlhase, Juergen
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Personal name McTrusty, Alice D
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Personal name Gardiner, Carol
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Personal name Yale, Christopher
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Personal name Moore, Anthony T
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Personal name Russell-Eggitt, Isabelle
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Personal name Islam, Lily
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Personal name Lees, Melissa
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Personal name Beales, Philip L
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Personal name Tuft, Stephen J
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Personal name Solano, Juan B
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Personal name Splitt, Miranda
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Personal name Hertz, Jens Michael
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Personal name Prescott, Trine E
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Personal name Shears, Deborah J
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Personal name Nischal, Ken K
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Personal name Doco-Fenzy, Martine
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Personal name Prieur, Fabienne
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Personal name Temple, I Karen
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Personal name Lachlan, Katherine L
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Personal name Damante, Giuseppe
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Morrison, Danny A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Heyningen, Veronica
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name FitzPatrick, David R
773 0# - HOST ITEM ENTRY
Title PloS one
Related parts vol. 11
-- no. 4
-- p. e0153757
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1371/journal.pone.0153757">https://doi.org/10.1371/journal.pone.0153757</a>
Public note Available from publisher's website

No items available.