Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
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| Title: | Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. |
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| Authors: | Beunders G; Department of Clinical Genetics, VU University Medical Center, Amsterdam 1007 MB, The Netherlands., Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA |
| Source: | American journal of human genetics [Am J Hum Genet] 2013 Feb 07; Vol. 92 (2), pp. 210-20. Date of Electronic Publication: 2013 Jan 17. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 23332918 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Beunders+G%22">Beunders G</searchLink>; Department of Clinical Genetics, VU University Medical Center, Amsterdam 1007 MB, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Voorhoeve+E%22">Voorhoeve E</searchLink><br /><searchLink fieldCode="AU" term="%22Golzio+C%22">Golzio C</searchLink><br /><searchLink fieldCode="AU" term="%22Pardo+LM%22">Pardo LM</searchLink><br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink><br /><searchLink fieldCode="AU" term="%22Talkowski+ME%22">Talkowski ME</searchLink><br /><searchLink fieldCode="AU" term="%22Simonic+I%22">Simonic I</searchLink><br /><searchLink fieldCode="AU" term="%22Lionel+AC%22">Lionel AC</searchLink><br /><searchLink fieldCode="AU" 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term="%22Eichler+EE%22">Eichler EE</searchLink><br /><searchLink fieldCode="AU" term="%22Girirajan+S%22">Girirajan S</searchLink><br /><searchLink fieldCode="AU" term="%22Katsanis+N%22">Katsanis N</searchLink><br /><searchLink fieldCode="AU" term="%22Groffen+AJ%22">Groffen AJ</searchLink><br /><searchLink fieldCode="AU" term="%22Sistermans+EA%22">Sistermans EA</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2013 Feb 07; Vol. 92 (2), pp. 210-20. <i>Date of Electronic Publication: </i>2013 Jan 17. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=23332918 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ajhg.2012.12.011 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 210 Titles: – TitleFull: Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Beunders G – PersonEntity: Name: NameFull: Voorhoeve E – PersonEntity: Name: NameFull: Golzio C – PersonEntity: Name: NameFull: Pardo LM – PersonEntity: Name: NameFull: Rosenfeld JA – PersonEntity: Name: NameFull: Talkowski ME – PersonEntity: Name: NameFull: Simonic I – PersonEntity: Name: NameFull: Lionel AC – PersonEntity: Name: NameFull: Vergult S – PersonEntity: Name: NameFull: Pyatt RE – PersonEntity: Name: NameFull: van de Kamp J – PersonEntity: Name: NameFull: Nieuwint A – PersonEntity: Name: NameFull: Weiss MM – PersonEntity: Name: NameFull: Rizzu P – PersonEntity: Name: NameFull: Verwer LE – PersonEntity: Name: NameFull: van Spaendonk RM – PersonEntity: Name: NameFull: Shen Y – PersonEntity: Name: NameFull: Wu BL – PersonEntity: Name: NameFull: Yu T – PersonEntity: Name: NameFull: Yu Y – PersonEntity: Name: NameFull: Chiang C – PersonEntity: Name: NameFull: Gusella JF – PersonEntity: Name: NameFull: Lindgren AM – PersonEntity: Name: NameFull: Morton CC – PersonEntity: Name: NameFull: van Binsbergen E – PersonEntity: Name: NameFull: Bulk S – PersonEntity: Name: NameFull: van Rossem E – PersonEntity: Name: NameFull: Vanakker O – PersonEntity: Name: NameFull: Armstrong R – PersonEntity: Name: NameFull: Park SM – PersonEntity: Name: NameFull: Greenhalgh L – PersonEntity: Name: NameFull: Maye U – PersonEntity: Name: NameFull: Neill NJ – PersonEntity: Name: NameFull: Abbott KM – PersonEntity: Name: NameFull: Sell S – PersonEntity: Name: NameFull: Ladda R – PersonEntity: Name: NameFull: Farber DM – PersonEntity: Name: NameFull: Bader PI – PersonEntity: Name: NameFull: Cushing T – PersonEntity: Name: NameFull: Drautz JM – PersonEntity: Name: NameFull: Konczal L – PersonEntity: Name: NameFull: Nash P – PersonEntity: Name: NameFull: de Los Reyes E – PersonEntity: Name: NameFull: Carter MT – PersonEntity: Name: NameFull: Hopkins E – PersonEntity: Name: NameFull: Marshall CR – PersonEntity: Name: NameFull: Osborne LR – PersonEntity: Name: NameFull: Gripp KW – PersonEntity: Name: NameFull: Thrush DL – PersonEntity: Name: NameFull: Hashimoto S – PersonEntity: Name: NameFull: Gastier-Foster JM – PersonEntity: Name: NameFull: Astbury C – PersonEntity: Name: NameFull: Ylstra B – PersonEntity: Name: NameFull: Meijers-Heijboer H – PersonEntity: Name: NameFull: Posthuma D – PersonEntity: Name: NameFull: Menten B – PersonEntity: Name: NameFull: Mortier G – PersonEntity: Name: NameFull: Scherer SW – PersonEntity: Name: NameFull: Eichler EE – PersonEntity: Name: NameFull: Girirajan S – PersonEntity: Name: NameFull: Katsanis N – PersonEntity: Name: NameFull: Groffen AJ – PersonEntity: Name: NameFull: Sistermans EA IsPartOfRelationships: – BibEntity: Dates: – D: 07 M: 02 Text: 2013 Feb 07 Type: published Y: 2013 Identifiers: – Type: issn-electronic Value: 1537-6605 Numbering: – Type: volume Value: 92 – Type: issue Value: 2 Titles: – TitleFull: American journal of human genetics Type: main |
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