The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
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| Title: | The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. |
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| Authors: | Twigg SR; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom., Matsumoto K, Kidd AM, Goriely A, Taylor IB, Fisher RB, Hoogeboom AJ, Mathijssen IM, Lourenco MT, Morton JE, Sweeney E, Wilson LC, Brunner HG, Mulliken JB, Wall SA, Wilkie AO |
| Source: | American journal of human genetics [Am J Hum Genet] 2006 Jun; Vol. 78 (6), pp. 999-1010. Date of Electronic Publication: 2006 Apr 28. |
| Publication Type: | Journal Article; 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: Print ISSN: 0002-9297 (Print) 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: 16685650 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Twigg+SR%22">Twigg SR</searchLink>; Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Matsumoto+K%22">Matsumoto K</searchLink><br /><searchLink fieldCode="AU" term="%22Kidd+AM%22">Kidd AM</searchLink><br /><searchLink fieldCode="AU" term="%22Goriely+A%22">Goriely A</searchLink><br /><searchLink fieldCode="AU" term="%22Taylor+IB%22">Taylor IB</searchLink><br /><searchLink fieldCode="AU" term="%22Fisher+RB%22">Fisher RB</searchLink><br /><searchLink fieldCode="AU" term="%22Hoogeboom+AJ%22">Hoogeboom AJ</searchLink><br /><searchLink fieldCode="AU" term="%22Mathijssen+IM%22">Mathijssen IM</searchLink><br /><searchLink fieldCode="AU" term="%22Lourenco+MT%22">Lourenco MT</searchLink><br /><searchLink fieldCode="AU" term="%22Morton+JE%22">Morton JE</searchLink><br /><searchLink fieldCode="AU" term="%22Sweeney+E%22">Sweeney E</searchLink><br /><searchLink fieldCode="AU" term="%22Wilson+LC%22">Wilson LC</searchLink><br /><searchLink fieldCode="AU" term="%22Brunner+HG%22">Brunner HG</searchLink><br /><searchLink fieldCode="AU" term="%22Mulliken+JB%22">Mulliken JB</searchLink><br /><searchLink fieldCode="AU" term="%22Wall+SA%22">Wall SA</searchLink><br /><searchLink fieldCode="AU" term="%22Wilkie+AO%22">Wilkie AO</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2006 Jun; Vol. 78 (6), pp. 999-1010. <i>Date of Electronic Publication: </i>2006 Apr 28. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; 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>Print <i>ISSN: </i>0002-9297 (Print) <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=16685650 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1086/504440 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 999 Titles: – TitleFull: The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Twigg SR – PersonEntity: Name: NameFull: Matsumoto K – PersonEntity: Name: NameFull: Kidd AM – PersonEntity: Name: NameFull: Goriely A – PersonEntity: Name: NameFull: Taylor IB – PersonEntity: Name: NameFull: Fisher RB – PersonEntity: Name: NameFull: Hoogeboom AJ – PersonEntity: Name: NameFull: Mathijssen IM – PersonEntity: Name: NameFull: Lourenco MT – PersonEntity: Name: NameFull: Morton JE – PersonEntity: Name: NameFull: Sweeney E – PersonEntity: Name: NameFull: Wilson LC – PersonEntity: Name: NameFull: Brunner HG – PersonEntity: Name: NameFull: Mulliken JB – PersonEntity: Name: NameFull: Wall SA – PersonEntity: Name: NameFull: Wilkie AO IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2006 Jun Type: published Y: 2006 Identifiers: – Type: issn-print Value: 0002-9297 Numbering: – Type: volume Value: 78 – Type: issue Value: 6 Titles: – TitleFull: American journal of human genetics Type: main |
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