A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. (Record no. 12686480)

MARC details
000 -LEADER
fixed length control field 02227 a2200661 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514074912.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200405s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0964-6906
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1093/hmg/ddg212
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 de Mollerat, Xavier J
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20040520
245 00 - TITLE STATEMENT
Title A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human molecular genetics
Date of publication, distribution, etc. Aug 2003
300 ## - PHYSICAL DESCRIPTION
Extent 1959-71 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Abnormalities, Multiple
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Line, Transformed
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Aberrations
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 10
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Electrophoresis, Gel, Pulsed-Field
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element F-Box Proteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Foot Deformities
General subdivision genetics
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 Hand Deformities
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 Hybrid Cells
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Models, Genetic
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 Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single-Stranded Conformational
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, DNA
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gurrieri, Fiorella
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Morgan, Chad T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sangiorgi, Eugenio
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Everman, David B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gaspari, Paola
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Amiel, Jeanne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bamshad, Michael J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lyle, Robert
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Blouin, Jean-Louis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Allanson, Judith E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Le Marec, Bernard
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wilson, Melba
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Braverman, Nancy E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Radhakrishna, Uppala
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Delozier-Blanchet, Celia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abbott, Albert
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Elghouzzi, Vincent
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Antonarakis, Stylianos
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stevenson, Roger E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Munnich, Arnold
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Neri, Giovanni
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schwartz, Charles E
773 0# - HOST ITEM ENTRY
Title Human molecular genetics
Related parts vol. 12
-- no. 16
-- p. 1959-71
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1093/hmg/ddg212">https://doi.org/10.1093/hmg/ddg212</a>
Public note Available from publisher's website

No items available.