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Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome.

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Title: Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome.
Authors: Le May N; Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France., Courraud J; Equipe Génétique et physiopathologie de maladies neurodéveloppementales et épileptogènes, IGBMC, Illkirch, France., Boujelbène I; Equipe Génétique et physiopathologie de maladies neurodéveloppementales et épileptogènes, IGBMC, Illkirch, France.; Laboratoires de diagnostic génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Obringer C; Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France., Ogi T; Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan., Lehmann AR; Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom., Laffargue F; Service de génétique médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Lehalle D; Service de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France., Mizuno S; Central Hospital, Aichi Developmental Disability Center, Kamiya, Kasugai, Japan., Mohammed S; South East Thames Regional Genetics Service, Guy's Hospital, London, United Kingdom., Ormières C; Service de Génétique Clinique, Hôpital Necker-Enfants Malades, Paris, France., Willems M; Equipe Maladies Génétiques de l'Enfant et de l'Adulte, CHU de Montpellier, Montpellier, France., Laugel V; Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.; Service de pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Calmels N; Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.; Laboratoires de diagnostic génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Source: Frontiers in neuroscience [Front Neurosci] 2025 Mar 26; Vol. 19, pp. 1554093. Date of Electronic Publication: 2025 Mar 26 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Le+May+N%22">Le May N</searchLink>; Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Courraud+J%22">Courraud J</searchLink>; Equipe Génétique et physiopathologie de maladies neurodéveloppementales et épileptogènes, IGBMC, Illkirch, France.<br /><searchLink fieldCode="AU" term="%22Boujelbène+I%22">Boujelbène I</searchLink>; Equipe Génétique et physiopathologie de maladies neurodéveloppementales et épileptogènes, IGBMC, Illkirch, France.; Laboratoires de diagnostic génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Obringer+C%22">Obringer C</searchLink>; Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Ogi+T%22">Ogi T</searchLink>; Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.<br /><searchLink fieldCode="AU" term="%22Lehmann+AR%22">Lehmann AR</searchLink>; Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Laffargue+F%22">Laffargue F</searchLink>; Service de génétique médicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France.<br /><searchLink fieldCode="AU" term="%22Lehalle+D%22">Lehalle D</searchLink>; Service de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Mizuno+S%22">Mizuno S</searchLink>; Central Hospital, Aichi Developmental Disability Center, Kamiya, Kasugai, Japan.<br /><searchLink fieldCode="AU" term="%22Mohammed+S%22">Mohammed S</searchLink>; South East Thames Regional Genetics Service, Guy's Hospital, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ormières+C%22">Ormières C</searchLink>; Service de Génétique Clinique, Hôpital Necker-Enfants Malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Willems+M%22">Willems M</searchLink>; Equipe Maladies Génétiques de l'Enfant et de l'Adulte, CHU de Montpellier, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Laugel+V%22">Laugel V</searchLink>; Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.; Service de pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Calmels+N%22">Calmels N</searchLink>; Laboratoire de génétique médicale, Faculté de médecine de Strasbourg, Strasbourg, France.; Laboratoires de diagnostic génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
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  Data: <searchLink fieldCode="JN" term="%22101478481%22">Frontiers in neuroscience</searchLink> [Front Neurosci] 2025 Mar 26; Vol. 19, pp. 1554093. <i>Date of Electronic Publication: </i>2025 Mar 26 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101478481 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1662-4548 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221662453X%22">1662453X </searchLink><i>NLM ISO Abbreviation: </i>Front Neurosci <i>Subsets: </i>PubMed not MEDLINE
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