9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. (Record no. 25285381)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02439 a2200733 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517053535.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201707s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2015.202 |
| 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 | Nambot, Sophie |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170726 |
| 245 00 - TITLE STATEMENT | |
| Title | 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | 06 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 830-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 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 | Child |
| 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 9 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Craniofacial Abnormalities |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endoglin |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy |
| General subdivision | diagnosis |
| 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 | 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 | Intellectual Disability |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | LIM-Homeodomain Proteins |
| 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 | Munc18 Proteins |
| 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 | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Masurel, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | El Chehadeh, Salima |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mosca-Boidron, Anne-Laure |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin-Robinet, Christel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lefebvre, Mathilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marle, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thevenon, Julien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Perez-Martin, Stéphanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dulieu, Véronique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huet, Frédéric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Plessis, Ghislaine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Andrieux, Joris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jouk, Pierre-Simon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Billy-Lopez, Gipsy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coutton, Charles |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morice-Picard, Fanny |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delrue, Marie-Ange |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heron, Delphine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rooryck, Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldenberg, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saugier-Veber, Pascale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joly-Hélas, Géraldine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calenda, Patricia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kuentz, Paul |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manouvrier-Hanu, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dupuis-Girod, Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Callier, Patrick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 24 |
| -- | no. 6 |
| -- | p. 830-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2015.202">https://doi.org/10.1038/ejhg.2015.202</a> |
| Public note | Available from publisher's website |
No items available.