Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. (Record no. 17712755)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02121 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515104342.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200804s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1432-1203 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00439-008-0467-y |
| 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 | Jalali, Ali |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080422 |
| 245 00 - TITLE STATEMENT | |
| Title | Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human genetics |
| Date of publication, distribution, etc. | Apr 2008 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 237-45 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, N.I.H., Extramural |
| 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 | Chromosome Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 2 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dandy-Walker Syndrome |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Encephalocele |
| General subdivision | complications |
| 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 | Genes, Dominant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Heterogeneity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Linkage |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome, Human |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genotype |
| 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 | In Situ Hybridization, Fluorescence |
| 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 | Nucleic Acid Hybridization |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Occipital Bone |
| General subdivision | abnormalities |
| 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 | Polymorphism, Single Nucleotide |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aldinger, Kimberly A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chary, Ajit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McLone, David G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bowman, Robin M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le, Luan Cong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jardine, Phillip |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Newbury-Ecob, Ruth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mallick, Andrew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jafari, Nadereh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Russell, Eric J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Curran, John |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nguyen, Pam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ouahchi, Karim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lee, Charles |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobyns, William B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Millen, Kathleen J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pina-Neto, Joao M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kessler, John A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bassuk, Alexander G |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human genetics |
| Related parts | vol. 123 |
| -- | no. 3 |
| -- | p. 237-45 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00439-008-0467-y">https://doi.org/10.1007/s00439-008-0467-y</a> |
| Public note | Available from publisher's website |
No items available.