GRM7-related disorder: five additional patients from three independent families and review of the literature.
Saved in:
| Title: | GRM7-related disorder: five additional patients from three independent families and review of the literature. |
|---|---|
| Authors: | Januel L; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France. Electronic address: louis.januel@chu-lyon.fr., Chatron N; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France; Institut NeuroMyoGene PNMG, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Rivier-Ringenbach C; Hôpital Nord-Ouest, Service de Neuropédiatre, Villefranche sur Saône, France., Cabet S; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Radiologie, Bron, France., Labalme A; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France., Sahin Y; Genoks Genetic Laboratory, Ankara, Turkey., Darvish H; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Sanlaville D; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France; Institut NeuroMyoGene PNMG, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., de Sainte Agathe JM; Département de Génétique Médicale, GHU Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France., Lesca G; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France; Institut NeuroMyoGene PNMG, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France. |
| Source: | European journal of medical genetics [Eur J Med Genet] 2024 Feb; Vol. 67, pp. 104893. Date of Electronic Publication: 2023 Dec 08. |
| Publication Type: | Review; Case Reports; Journal Article |
| Journal Info: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38070825 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: GRM7-related disorder: five additional patients from three independent families and review of the literature. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Januel+L%22">Januel L</searchLink>; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France. Electronic address: louis.januel@chu-lyon.fr.<br /><searchLink fieldCode="AU" term="%22Chatron+N%22">Chatron N</searchLink>; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France; Institut NeuroMyoGene PNMG, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Rivier-Ringenbach+C%22">Rivier-Ringenbach C</searchLink>; Hôpital Nord-Ouest, Service de Neuropédiatre, Villefranche sur Saône, France.<br /><searchLink fieldCode="AU" term="%22Cabet+S%22">Cabet S</searchLink>; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Radiologie, Bron, France.<br /><searchLink fieldCode="AU" term="%22Labalme+A%22">Labalme A</searchLink>; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France.<br /><searchLink fieldCode="AU" term="%22Sahin+Y%22">Sahin Y</searchLink>; Genoks Genetic Laboratory, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Darvish+H%22">Darvish H</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Kruer+M%22">Kruer M</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Bakhtiari+S%22">Bakhtiari S</searchLink>; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Sanlaville+D%22">Sanlaville D</searchLink>; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France; Institut NeuroMyoGene PNMG, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22de+Sainte+Agathe+JM%22">de Sainte Agathe JM</searchLink>; Département de Génétique Médicale, GHU Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Hospices Civils de Lyon, Groupe Hospitalier Est, Service de Génétique, Bron, France; Institut NeuroMyoGene PNMG, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2024 Feb; Vol. 67, pp. 104893. <i>Date of Electronic Publication: </i>2023 Dec 08. – Name: TypePub Label: Publication Type Group: TypPub Data: Review; Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38070825 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ejmg.2023.104893 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 104893 Titles: – TitleFull: GRM7-related disorder: five additional patients from three independent families and review of the literature. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Januel L – PersonEntity: Name: NameFull: Chatron N – PersonEntity: Name: NameFull: Rivier-Ringenbach C – PersonEntity: Name: NameFull: Cabet S – PersonEntity: Name: NameFull: Labalme A – PersonEntity: Name: NameFull: Sahin Y – PersonEntity: Name: NameFull: Darvish H – PersonEntity: Name: NameFull: Kruer M – PersonEntity: Name: NameFull: Bakhtiari S – PersonEntity: Name: NameFull: Sanlaville D – PersonEntity: Name: NameFull: de Sainte Agathe JM – PersonEntity: Name: NameFull: Lesca G IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2024 Feb Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1878-0849 Numbering: – Type: volume Value: 67 Titles: – TitleFull: European journal of medical genetics Type: main |
| ResultId | 1 |