Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound. (Record no. 30344511)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01746 a2200481 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518071846.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202005s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1875-6263 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.tjog.2019.07.031 |
| 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 | Chen, Chih-Ping |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200504 |
| 245 00 - TITLE STATEMENT | |
| Title | Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Taiwanese journal of obstetrics & gynecology |
| Date of publication, distribution, etc. | Nov 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 859-863 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormalities, Multiple |
| General subdivision | diagnosis |
| 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 | Chromosome Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Helicases |
| General subdivision | genetics |
| 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 | DNA-Binding Proteins |
| 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 | Kidney Tubules, Proximal |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Megalencephaly |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Oligohydramnios |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pregnancy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ultrasonography, Prenatal |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Urogenital Abnormalities |
| General subdivision | diagnosis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huang, Jian-Pei |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chen, Yi-Yung |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chern, Schu-Rern |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wu, Peih-Shan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chen, Shin-Wen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Wayseen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lee, Chen-Chi |
| 773 0# - HOST ITEM ENTRY | |
| Title | Taiwanese journal of obstetrics & gynecology |
| Related parts | vol. 58 |
| -- | no. 6 |
| -- | p. 859-863 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.tjog.2019.07.031">https://doi.org/10.1016/j.tjog.2019.07.031</a> |
| Public note | Available from publisher's website |
No items available.