From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.
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| Title: | From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene. |
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| Authors: | Pyromali I; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France., Benslimane N; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France., Favreau F; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France., Goizet C; Centre Hospitalo-Universitaire (CHU) Bordeaux-GH Pellegrin Tripode, Service de Génétique Médicale, F-33076 Bordeaux, France., Lazaro L; Centre Hospitalier (CH) de la Côte Basque, F-64100 Bayonne, France., Vitry M; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France., Derouault P; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Bioinformatique, F-87000 Limoges, France., Sturtz F; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France., Magdelaine C; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France., Lia AS; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Bioinformatique, F-87000 Limoges, France. |
| Source: | Journal of personalized medicine [J Pers Med] 2022 Feb 03; Vol. 12 (2). Date of Electronic Publication: 2022 Feb 03. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101602269 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4426 (Print) Linking ISSN: 20754426 NLM ISO Abbreviation: J Pers Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 35207700 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Pyromali+I%22">Pyromali I</searchLink>; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Benslimane+N%22">Benslimane N</searchLink>; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Favreau+F%22">Favreau F</searchLink>; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Goizet+C%22">Goizet C</searchLink>; Centre Hospitalo-Universitaire (CHU) Bordeaux-GH Pellegrin Tripode, Service de Génétique Médicale, F-33076 Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Lazaro+L%22">Lazaro L</searchLink>; Centre Hospitalier (CH) de la Côte Basque, F-64100 Bayonne, France.<br /><searchLink fieldCode="AU" term="%22Vitry+M%22">Vitry M</searchLink>; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Derouault+P%22">Derouault P</searchLink>; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Bioinformatique, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Sturtz+F%22">Sturtz F</searchLink>; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Magdelaine+C%22">Magdelaine C</searchLink>; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.<br /><searchLink fieldCode="AU" term="%22Lia+AS%22">Lia AS</searchLink>; Faculty of Medicine, MMNP (Maintenance Myélinique et Neuropathies Périphériques), University of Limoges, EA6309, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Biochimie et de Génétique Moléculaire, F-87000 Limoges, France.; Centre Hospitalo-Universitaire (CHU) Limoges, Service de Bioinformatique, F-87000 Limoges, France. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101602269%22">Journal of personalized medicine</searchLink> [J Pers Med] 2022 Feb 03; Vol. 12 (2). <i>Date of Electronic Publication: </i>2022 Feb 03. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI+AG%22">MDPI AG </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101602269 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2075-4426 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220754426%22">20754426 </searchLink><i>NLM ISO Abbreviation: </i>J Pers Med <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=35207700 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/jpm12020212 Languages: – Code: eng Text: English Titles: – TitleFull: From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Pyromali I – PersonEntity: Name: NameFull: Benslimane N – PersonEntity: Name: NameFull: Favreau F – PersonEntity: Name: NameFull: Goizet C – PersonEntity: Name: NameFull: Lazaro L – PersonEntity: Name: NameFull: Vitry M – PersonEntity: Name: NameFull: Derouault P – PersonEntity: Name: NameFull: Sturtz F – PersonEntity: Name: NameFull: Magdelaine C – PersonEntity: Name: NameFull: Lia AS IsPartOfRelationships: – BibEntity: Dates: – D: 03 M: 02 Text: 2022 Feb 03 Type: published Y: 2022 Identifiers: – Type: issn-print Value: 2075-4426 Numbering: – Type: volume Value: 12 – Type: issue Value: 2 Titles: – TitleFull: Journal of personalized medicine Type: main |
| ResultId | 1 |
