Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. (Record no. 14721782)

MARC details
000 -LEADER
fixed length control field 02248 a2200649 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514181745.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200404s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0021-972X
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1210/jc.2003-030476
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 Sato, Naoko
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20040402
245 00 - TITLE STATEMENT
Title Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. The Journal of clinical endocrinology and metabolism
Date of publication, distribution, etc. Mar 2004
300 ## - PHYSICAL DESCRIPTION
Extent 1079-88 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 Adolescent
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 Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Mutational Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Extracellular Matrix Proteins
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Family Health
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 Genetic Predisposition to Disease
General subdivision epidemiology
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 Kallmann Syndrome
General subdivision epidemiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Magnetic Resonance Imaging
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 Nerve Tissue Proteins
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 Prevalence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor Protein-Tyrosine Kinases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor, Fibroblast Growth Factor, Type 1
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, Fibroblast Growth Factor
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Smell
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Katsumata, Noriyuki
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kagami, Masayo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hasegawa, Tomonobu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hori, Naoaki
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kawakita, Setsuyo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Minowada, Shigeru
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shimotsuka, Aki
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shishiba, Yoshimasa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yokozawa, Masato
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yasuda, Toshiyuki
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nagasaki, Keisuke
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hasegawa, Daiichiro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hasegawa, Yukihiro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tachibana, Katsuhiko
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Naiki, Yasuhiro
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Horikawa, Reiko
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tanaka, Toshiaki
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ogata, Tsutomu
773 0# - HOST ITEM ENTRY
Title The Journal of clinical endocrinology and metabolism
Related parts vol. 89
-- no. 3
-- p. 1079-88
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1210/jc.2003-030476">https://doi.org/10.1210/jc.2003-030476</a>
Public note Available from publisher's website

No items available.