The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.
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| Title: | The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. |
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| Authors: | Bhalla K; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Phillips HA; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Crawford J; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., McKenzie OLD; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Mulley JC; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Eyre H; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Gardner AE; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Kremmidiotis G; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Callen DF; Department of Medicine, Breast Cancer Genetics Group, Hanson Institute (North Building), Institute of Medical and Veterinary Science, University of Adelaide, P.O. Box 14, Rundle Mall, Adelaide, South Australia, 5000, Australia. david.callen@imvs.sa.gov.au. |
| Source: | Journal of human genetics [J Hum Genet] 2004; Vol. 49 (6), pp. 308-311. Date of Electronic Publication: 2004 May 18. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1434-5161 (Print) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 15148587 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Bhalla+K%22">Bhalla K</searchLink>; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Phillips+HA%22">Phillips HA</searchLink>; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Crawford+J%22">Crawford J</searchLink>; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22McKenzie+OLD%22">McKenzie OLD</searchLink>; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Mulley+JC%22">Mulley JC</searchLink>; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Eyre+H%22">Eyre H</searchLink>; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Gardner+AE%22">Gardner AE</searchLink>; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Kremmidiotis+G%22">Kremmidiotis G</searchLink>; Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Callen+DF%22">Callen DF</searchLink>; Department of Medicine, Breast Cancer Genetics Group, Hanson Institute (North Building), Institute of Medical and Veterinary Science, University of Adelaide, P.O. Box 14, Rundle Mall, Adelaide, South Australia, 5000, Australia. david.callen@imvs.sa.gov.au. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2004; Vol. 49 (6), pp. 308-311. <i>Date of Electronic Publication: </i>2004 May 18. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>1434-5161 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=15148587 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s10038-004-0145-4 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 308 Titles: – TitleFull: The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Bhalla K – PersonEntity: Name: NameFull: Phillips HA – PersonEntity: Name: NameFull: Crawford J – PersonEntity: Name: NameFull: McKenzie OLD – PersonEntity: Name: NameFull: Mulley JC – PersonEntity: Name: NameFull: Eyre H – PersonEntity: Name: NameFull: Gardner AE – PersonEntity: Name: NameFull: Kremmidiotis G – PersonEntity: Name: NameFull: Callen DF IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2004 Type: published Y: 2004 Identifiers: – Type: issn-print Value: 1434-5161 Numbering: – Type: volume Value: 49 – Type: issue Value: 6 Titles: – TitleFull: Journal of human genetics Type: main |
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