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)
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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.