Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients.
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| Title: | Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients. |
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| Authors: | Faraj R; UMR 1101, LaTIM, Inserm, IMT-A, Univ Brest, Brest, France, inserm.fr.; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr., Farrugia A; Institut de Médecine Légale de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France, unistra.fr.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR7104 INSERM U1258, Université de Strasbourg, Illkirch, France, unistra.fr., Hurst ACE; Department of Genetics, University of Alabama, Birmingham, USA, ua.edu., Conan P; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr., Martin J; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr., Schalk A; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France, chru-strasbourg.fr., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.; Reference Centre of Rare Disease With Intellectual Disability and Multiple Disabilities, CHRU de Brest, Brest, France., Dubos A; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR7104 INSERM U1258, Université de Strasbourg, Illkirch, France, unistra.fr., Gras M; Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France., Curie A; Child Neurology Department and Reference Centre of Rare Disease With Intellectual Disability, Hospices Civils de Lyon, Lyon University Hospital, Lyon, France, chu-lyon.fr.; CNRS UMR5292, INSERM U1028, Lyon Neuroscience Research Centre, Lyon, France, inserm.fr.; Lyon University, Lyon, France, universite-lyon.fr., Voisset C; UMR 1101, LaTIM, Inserm, IMT-A, Univ Brest, Brest, France, inserm.fr.; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr., Friocourt G; UMR 1101, LaTIM, Inserm, IMT-A, Univ Brest, Brest, France, inserm.fr.; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr.; Reference Centre of Rare Disease With Intellectual Disability and Multiple Disabilities, CHRU de Brest, Brest, France. |
| Source: | Human mutation [Hum Mutat] 2026 Apr 07; Vol. 2026, pp. 4732622. Date of Electronic Publication: 2026 Apr 07 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41960368 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Faraj+R%22">Faraj R</searchLink>; UMR 1101, LaTIM, Inserm, IMT-A, Univ Brest, Brest, France, inserm.fr.; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr.<br /><searchLink fieldCode="AU" term="%22Farrugia+A%22">Farrugia A</searchLink>; Institut de Médecine Légale de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France, unistra.fr.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR7104 INSERM U1258, Université de Strasbourg, Illkirch, France, unistra.fr.<br /><searchLink fieldCode="AU" term="%22Hurst+ACE%22">Hurst ACE</searchLink>; Department of Genetics, University of Alabama, Birmingham, USA, ua.edu.<br /><searchLink fieldCode="AU" term="%22Conan+P%22">Conan P</searchLink>; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr.<br /><searchLink fieldCode="AU" term="%22Martin+J%22">Martin J</searchLink>; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr.<br /><searchLink fieldCode="AU" term="%22Schalk+A%22">Schalk A</searchLink>; Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France, chru-strasbourg.fr.<br /><searchLink fieldCode="AU" term="%22Redon+S%22">Redon S</searchLink>; Service de Génétique Médicale et Biologie de la Reproduction, CHRU de Brest, Brest, France.; Reference Centre of Rare Disease With Intellectual Disability and Multiple Disabilities, CHRU de Brest, Brest, France.<br /><searchLink fieldCode="AU" term="%22Dubos+A%22">Dubos A</searchLink>; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR7104 INSERM U1258, Université de Strasbourg, Illkirch, France, unistra.fr.<br /><searchLink fieldCode="AU" term="%22Gras+M%22">Gras M</searchLink>; Department of Clinical Genetics, APHP Sorbonne Université, University Hospital Pitié Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Curie+A%22">Curie A</searchLink>; Child Neurology Department and Reference Centre of Rare Disease With Intellectual Disability, Hospices Civils de Lyon, Lyon University Hospital, Lyon, France, chu-lyon.fr.; CNRS UMR5292, INSERM U1028, Lyon Neuroscience Research Centre, Lyon, France, inserm.fr.; Lyon University, Lyon, France, universite-lyon.fr.<br /><searchLink fieldCode="AU" term="%22Voisset+C%22">Voisset C</searchLink>; UMR 1101, LaTIM, Inserm, IMT-A, Univ Brest, Brest, France, inserm.fr.; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr.<br /><searchLink fieldCode="AU" term="%22Friocourt+G%22">Friocourt G</searchLink>; UMR 1101, LaTIM, Inserm, IMT-A, Univ Brest, Brest, France, inserm.fr.; UMR 1078, GGB, Inserm, EFS, Univ Brest, Brest, France, inserm.fr.; Reference Centre of Rare Disease With Intellectual Disability and Multiple Disabilities, CHRU de Brest, Brest, France. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2026 Apr 07; Vol. 2026, pp. 4732622. <i>Date of Electronic Publication: </i>2026 Apr 07 (<i>Print Publication: </i>2026). – 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="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41960368 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1155/humu/4732622 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 4732622 Titles: – TitleFull: Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Faraj R – PersonEntity: Name: NameFull: Farrugia A – PersonEntity: Name: NameFull: Hurst ACE – PersonEntity: Name: NameFull: Conan P – PersonEntity: Name: NameFull: Martin J – PersonEntity: Name: NameFull: Schalk A – PersonEntity: Name: NameFull: Redon S – PersonEntity: Name: NameFull: Dubos A – PersonEntity: Name: NameFull: Gras M – PersonEntity: Name: NameFull: Curie A – PersonEntity: Name: NameFull: Voisset C – PersonEntity: Name: NameFull: Friocourt G IsPartOfRelationships: – BibEntity: Dates: – D: 07 M: 04 Text: 2026 Apr 07 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1098-1004 Numbering: – Type: volume Value: 2026 Titles: – TitleFull: Human mutation Type: main |
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