The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

Saved in:
Bibliographic Details
Title: The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
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
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 16685650
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
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
ResultId 1