Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family.
Saved in:
| Title: | Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family. |
|---|---|
| Authors: | Suzuki-Ajihara S; Department of Pediatrics, Saitama Medical University, Saitama, Japan.; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan., Saito-Tsuruoka M; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan.; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan., Harashima H; Department of Pediatrics, Saitama Medical University, Saitama, Japan.; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan., Arai K; Hello Clinic, Saitama, Japan., Koide H; Hello Clinic, Saitama, Japan., Yatsuka Y; Diagnosis and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan., Imai-Okazaki A; Diagnosis and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan., Okazaki Y; Diagnosis and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan., Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan., Numakura C; Department of Pediatrics, Saitama Medical University, Saitama, Japan.; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan., Akioka Y; Department of Pediatrics, Saitama Medical University, Saitama, Japan., Ohtake A; Department of Pediatrics, Saitama Medical University, Saitama, Japan.; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan.; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan. |
| Source: | Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Mar 17; Vol. 35, pp. 100966. Date of Electronic Publication: 2023 Mar 17 (Print Publication: 2023). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36967720 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Suzuki-Ajihara+S%22">Suzuki-Ajihara S</searchLink>; Department of Pediatrics, Saitama Medical University, Saitama, Japan.; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Saito-Tsuruoka+M%22">Saito-Tsuruoka M</searchLink>; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan.; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Harashima+H%22">Harashima H</searchLink>; Department of Pediatrics, Saitama Medical University, Saitama, Japan.; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Arai+K%22">Arai K</searchLink>; Hello Clinic, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Koide+H%22">Koide H</searchLink>; Hello Clinic, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Yatsuka+Y%22">Yatsuka Y</searchLink>; Diagnosis and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Imai-Okazaki+A%22">Imai-Okazaki A</searchLink>; Diagnosis and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Okazaki+Y%22">Okazaki Y</searchLink>; Diagnosis and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Murayama+K%22">Murayama K</searchLink>; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.<br /><searchLink fieldCode="AU" term="%22Numakura+C%22">Numakura C</searchLink>; Department of Pediatrics, Saitama Medical University, Saitama, Japan.; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Akioka+Y%22">Akioka Y</searchLink>; Department of Pediatrics, Saitama Medical University, Saitama, Japan.<br /><searchLink fieldCode="AU" term="%22Ohtake+A%22">Ohtake A</searchLink>; Department of Pediatrics, Saitama Medical University, Saitama, Japan.; Department of Clinical Genomics, Saitama Medical University, Saitama, Japan.; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101624422%22">Molecular genetics and metabolism reports</searchLink> [Mol Genet Metab Rep] 2023 Mar 17; Vol. 35, pp. 100966. <i>Date of Electronic Publication: </i>2023 Mar 17 (<i>Print Publication: </i>2023). – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101624422 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2214-4269 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222144269%22">22144269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Metab Rep <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36967720 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ymgmr.2023.100966 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 100966 Titles: – TitleFull: Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Suzuki-Ajihara S – PersonEntity: Name: NameFull: Saito-Tsuruoka M – PersonEntity: Name: NameFull: Harashima H – PersonEntity: Name: NameFull: Arai K – PersonEntity: Name: NameFull: Koide H – PersonEntity: Name: NameFull: Yatsuka Y – PersonEntity: Name: NameFull: Imai-Okazaki A – PersonEntity: Name: NameFull: Okazaki Y – PersonEntity: Name: NameFull: Murayama K – PersonEntity: Name: NameFull: Numakura C – PersonEntity: Name: NameFull: Akioka Y – PersonEntity: Name: NameFull: Ohtake A IsPartOfRelationships: – BibEntity: Dates: – D: 17 M: 03 Text: 2023 Mar 17 Type: published Y: 2023 Identifiers: – Type: issn-print Value: 2214-4269 Numbering: – Type: volume Value: 35 Titles: – TitleFull: Molecular genetics and metabolism reports Type: main |
| ResultId | 1 |
