Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms. (Record no. 22411216)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01495 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516131044.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201401s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1557-9077 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1089/thy.2012.0141 |
| 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 | Hermanns, Pia |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140127 |
| 245 00 - TITLE STATEMENT | |
| Title | Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Thyroid : official journal of the American Thyroid Association |
| Date of publication, distribution, etc. | Jul 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 791-6 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Congenital Hypothyroidism |
| 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 | Infant, Newborn |
| 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 | PAX8 Transcription Factor |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Paired Box Transcription Factors |
| 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 | Thyroid Dysgenesis |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grasberger, Helmut |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cohen, Ronald |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Freiberg, Clemens |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dörr, Helmuth-Günther |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Refetoff, Samuel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pohlenz, Joachim |
| 773 0# - HOST ITEM ENTRY | |
| Title | Thyroid : official journal of the American Thyroid Association |
| Related parts | vol. 23 |
| -- | no. 7 |
| -- | p. 791-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1089/thy.2012.0141">https://doi.org/10.1089/thy.2012.0141</a> |
| Public note | Available from publisher's website |
No items available.