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High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients.

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Title: High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients.
Authors: Peyre M; Department of Neurosurgery, Sorbonne Universités, Groupe Hospitalier Pitié -Salpêtrière, Bâtiment Babinski, 47-83 boulevard de l'Hôpital, Paris, 75013, France. matthieu.peyre@aphp.fr.; Neurovascular interfaces in brain tumors and vascular malformations, CRICM INSERM U1127 CNRS UMR 7225 - Brain Institute, Hôpital de la Pitié-Salpêtrière, Paris, France. matthieu.peyre@aphp.fr., Barbance C; Department of Genomic Medecine, Groupe Hospitalier AP-HP.Centre, Université Paris Cité - Hôpital Cochin, 27 rue du Faubourg Saint Jacques, Paris, 75014, France., Tran S; Department of Neuropathology, APHP, Sorbonne Universités, Groupe Hospitalier Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, Paris, 75013, France., Pacot L; Department of Genomic Medecine, Groupe Hospitalier AP-HP.Centre, Université Paris Cité - Hôpital Cochin, 27 rue du Faubourg Saint Jacques, Paris, 75014, France.; Functional genomics of rare tumors, Institut Cochin-(U1016 Inserm, UMR8104 CNRS, Université Paris Cité), Paris, France., Terris B; Department of Pathology, Groupe Hospitalier AP-HP, Centre Université Paris Cité - Hôpital Cochin, 27 rue du Faubourg Saint Jacques, Paris, 75014, France., Kalamarides M; Department of Neurosurgery, Sorbonne Universités, Groupe Hospitalier Pitié -Salpêtrière, Bâtiment Babinski, 47-83 boulevard de l'Hôpital, Paris, 75013, France.; Neurovascular interfaces in brain tumors and vascular malformations, CRICM INSERM U1127 CNRS UMR 7225 - Brain Institute, Hôpital de la Pitié-Salpêtrière, Paris, France., Parfait B; Department of Genomic Medecine, Groupe Hospitalier AP-HP.Centre, Université Paris Cité - Hôpital Cochin, 27 rue du Faubourg Saint Jacques, Paris, 75014, France.; Functional genomics of rare tumors, Institut Cochin-(U1016 Inserm, UMR8104 CNRS, Université Paris Cité), Paris, France.
Source: Human genetics [Hum Genet] 2026 Mar 13; Vol. 145 (1). Date of Electronic Publication: 2026 Mar 13.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
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  Data: High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients.
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  Data: <searchLink fieldCode="AU" term="%22Peyre+M%22">Peyre M</searchLink>; Department of Neurosurgery, Sorbonne Universités, Groupe Hospitalier Pitié -Salpêtrière, Bâtiment Babinski, 47-83 boulevard de l'Hôpital, Paris, 75013, France. matthieu.peyre@aphp.fr.; Neurovascular interfaces in brain tumors and vascular malformations, CRICM INSERM U1127 CNRS UMR 7225 - Brain Institute, Hôpital de la Pitié-Salpêtrière, Paris, France. matthieu.peyre@aphp.fr.<br /><searchLink fieldCode="AU" term="%22Barbance+C%22">Barbance C</searchLink>; Department of Genomic Medecine, Groupe Hospitalier AP-HP.Centre, Université Paris Cité - Hôpital Cochin, 27 rue du Faubourg Saint Jacques, Paris, 75014, France.<br /><searchLink fieldCode="AU" term="%22Tran+S%22">Tran S</searchLink>; Department of Neuropathology, APHP, Sorbonne Universités, Groupe Hospitalier Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, Paris, 75013, France.<br /><searchLink fieldCode="AU" term="%22Pacot+L%22">Pacot L</searchLink>; Department of Genomic Medecine, Groupe Hospitalier AP-HP.Centre, Université Paris Cité - Hôpital Cochin, 27 rue du Faubourg Saint Jacques, Paris, 75014, France.; Functional genomics of rare tumors, Institut Cochin-(U1016 Inserm, UMR8104 CNRS, Université Paris Cité), Paris, France.<br /><searchLink fieldCode="AU" term="%22Terris+B%22">Terris B</searchLink>; Department of Pathology, Groupe Hospitalier AP-HP, Centre Université Paris Cité - Hôpital Cochin, 27 rue du Faubourg Saint Jacques, Paris, 75014, France.<br /><searchLink fieldCode="AU" term="%22Kalamarides+M%22">Kalamarides M</searchLink>; Department of Neurosurgery, Sorbonne Universités, Groupe Hospitalier Pitié -Salpêtrière, Bâtiment Babinski, 47-83 boulevard de l'Hôpital, Paris, 75013, France.; Neurovascular interfaces in brain tumors and vascular malformations, CRICM INSERM U1127 CNRS UMR 7225 - Brain Institute, Hôpital de la Pitié-Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Parfait+B%22">Parfait B</searchLink>; Department of Genomic Medecine, Groupe Hospitalier AP-HP.Centre, Université Paris Cité - Hôpital Cochin, 27 rue du Faubourg Saint Jacques, Paris, 75014, France.; Functional genomics of rare tumors, Institut Cochin-(U1016 Inserm, UMR8104 CNRS, Université Paris Cité), Paris, France.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2026 Mar 13; Vol. 145 (1). <i>Date of Electronic Publication: </i>2026 Mar 13.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s00439-026-02825-6
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              Text: 2026 Mar 13
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