Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. (Record no. 14951245)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01854 a2200577 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514193556.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200409s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0002-9297 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1086/423493 |
| 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 | Tartaglia, Marco |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20040917 |
| 245 00 - TITLE STATEMENT | |
| Title | Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Sep 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 492-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | CpG Islands |
| 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 | Exons |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Facies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fathers |
| 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 | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Germ-Line Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| 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 | Intracellular Signaling Peptides and Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Introns |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Noonan Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Tyrosine Phosphatase, Non-Receptor Type 11 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Tyrosine Phosphatases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sex Factors |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sex Ratio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cordeddu, Viviana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chang, Hong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shaw, Adam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kalidas, Kamini |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crosby, Andrew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Patton, Michael A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sorcini, Mariella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Burgt, Ineke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jeffery, Steve |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gelb, Bruce D |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 75 |
| -- | no. 3 |
| -- | p. 492-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1086/423493">https://doi.org/10.1086/423493</a> |
| Public note | Available from publisher's website |
No items available.