Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. (Record no. 25312891)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02620 a2200805 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517054455.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201609s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmedgenet-2015-103184 |
| 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 | Zollino, Marcella |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20160912 |
| 245 00 - TITLE STATEMENT | |
| Title | Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Dec 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 804-14 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 | Abnormalities, Multiple |
| General subdivision | genetics |
| 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 | 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 17 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Craniofacial Abnormalities |
| 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 | Fetal Growth Retardation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haploinsufficiency |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Language Development Disorders |
| General subdivision | genetics |
| 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 | Nuclear Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Seizures |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Severity of Illness Index |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Smith-Magenis Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marangi, Giuseppe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ponzi, Emanuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Orteschi, Daniela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ricciardi, Stefania |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lattante, Serena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murdolo, Marina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Battaglia, Domenica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Contaldo, Ilaria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mercuri, Eugenio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stefanini, Maria Chiara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caumes, Roseline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Edery, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rossi, Massimiliano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piccione, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corsello, Giovanni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Della Monica, Matteo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scarano, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Priolo, Manuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gentile, Mattia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zampino, Giuseppe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vijzelaar, Raymon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abdulrahman, Omar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rauch, Anita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oneda, Beatrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Deardorff, Matthew A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saitta, Sulagna C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Falk, Marni J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dubbs, Holly |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zackai, Elaine |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 52 |
| -- | no. 12 |
| -- | p. 804-14 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2015-103184">https://doi.org/10.1136/jmedgenet-2015-103184</a> |
| Public note | Available from publisher's website |
No items available.