Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male. (Record no. 14299560)

MARC details
000 -LEADER
fixed length control field 01606 a2200469 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514160332.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200406s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1552-4825
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/ajmg.a.20498
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 Pramparo, Tiziano
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20040618
245 00 - TITLE STATEMENT
Title Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of medical genetics. Part A
Date of publication, distribution, etc. Nov 2003
300 ## - PHYSICAL DESCRIPTION
Extent 79-83 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 Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosome Banding
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Chromosomes, Human, Pair 8
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exostoses, Multiple Hereditary
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infertility
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Karyotyping
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 Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element N-Acetylglucosaminyltransferases
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 Translocation, Genetic
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exostosin 1
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gregato, Giuliana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name De Gregori, Manuela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Friso, Alessandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Clementi, Maurizio
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ardenghi, Patrizia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rocchi, Mariano
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zuffardi, Orsetta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tenconi, Romano
773 0# - HOST ITEM ENTRY
Title American journal of medical genetics. Part A
Related parts vol. 123A
-- no. 1
-- p. 79-83
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/ajmg.a.20498">https://doi.org/10.1002/ajmg.a.20498</a>
Public note Available from publisher's website

No items available.