ArticleJournal of medical genetics2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with
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Article in Journal of medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6citing papers in PubMed
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Who cites it
6 citing papers in PubMed.
- Article
- Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.Orphanet journal of rare diseases · 2026Review
- Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276.FEBS open bio · 2026Article
- Neurovascular Issues in Neurofibromatosis Type I: Focus on Intracranial Stenosis.Life (Basel, Switzerland) · 2026Review
- Article
- Current states in understanding oligodendroglia-mediated neurological issues in neurofibromatosis type 1 (NF1).Acta neuropathologica communications · 2025Review
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Authors and funding
61 authors.
Laurence PacotInstitut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.
Marinus BlokDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Dominique VidaudInstitut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.
Laura FertittaDepartment of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.
Ingrid LaurendeauInstitut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.
Audrey CoustierFédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.
Theodora MaillardFédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.
Cécile BarbanceFédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.
Djihad HadjadjInstitut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.
Manuela YeInstitut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.
Dominique LallemandInstitut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.
Salah FerkalDepartment of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.
Benoit FunalotDepartment of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France.
Ariane Lunati-RozieDepartment of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France.
Bérénice HebrardDepartment of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France.
Rakia BhouriDepartment of Ophthalmology, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France.
Liesbeth SpruijtDepartment of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Didier BessisDepartment of Dermatology and Reference Center for Rare Skin Diseases MAGEC-Sud Montpellier, Filière Maladies Rares Dermatologiques (FIMARAD), Saint-Eloi Hospital, and University of Montpellier, Montpellier, France.
David GenevièveInserm U1183, Department of Clinical Genetics, Reference center for rare disease developmental anomaly and malformative syndrome, CHU Montpellier, and Montpellier University, Montpellier, France.
Vivian VernimmenDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
Martinus P G BroenDepartment of Neurology, GROW School for Oncology and Reproduction, Maastricht University Medical Centre, Maastricht, The Netherlands.
Sabine SigaudyDepartment of Medical Genetics, Children's Hospital La Timone, Assistance Publique des Hôpitaux de Marseille, Marseille, France.
Sylvie OdentService de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.
Léna DamajService de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.
Chloé QuélinService de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.
Laurent PasquierService de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.
Valérie LayetConsultations de Génétique, Groupe Hospitalier du Havre, Le Havre, France.
Brigitte Gilbert-DussardierService de Génétique, CHU de Poitiers, Poitiers, France.
Gaël NicolasDepartment of Genetics and reference center for developmental abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.ORCID http://orcid.org/0000-0001-9391-7800
Anne-Marie GuerrotDepartment of Genetics and reference center for developmental abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.
Bruno LeheupService de Génétique Médicale, Hôpitaux de Brabois, CHRU de Nancy, Vandoeuvre-lès-Nancy, France.
Anne-Claire BursztejnDepartment of Dermatology, CHRU Nancy, Vandoeuvre-lès-Nancy, France.
Florence PetitClinique de Génétique, Centre de Référence Anomalies du Développement, Univ. Lille, CHU Lille, Lille, France.ORCID http://orcid.org/0000-0002-1368-1023
Odile Boute-BénéjeanClinique de Génétique, Centre de Référence Anomalies du Développement, Univ. Lille, CHU Lille, Lille, France.
Yline CapriUF de Génétique Clinique, CHU Robert Debré, Paris, France.
Anne GuimierService de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.
Stanislas LyonnetService de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.
Genevieve BaujatService de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.
Emmanuelle BourratDepartment of Dermatology, MAGEC-Nord Hôpital Saint Louis, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.
Bertrand IsidorMedical Genetics Department, CHU de Nantes, Hôtel Dieu Hospital, Nantes, France.
Mathilde NizonMedical Genetics Department, CHU de Nantes, Hôtel Dieu Hospital, Nantes, France.
Sébastien BarbarotDepartment of Dermatology, CHU Nantes, INRAE, UMR 1280, PhAN, Nantes University, Nantes, France.
Annick ToutainDepartment of Genetics, Bretonneau University Hospital, Tours, France.ORCID http://orcid.org/0000-0002-5999-5300
Sophie BlessonDepartment of Genetics, Bretonneau University Hospital, Tours, France.
Julien Van-GilsDépartement de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.
Fanny Morice-PicardPediatric Dermatology Unit, National Center for Rare Skin Disorders, University Hospital of Bordeaux, Bordeaux, France.
Séverine Audebert-BellangerService de Pédiatrie et de Génétique Médicale, CHRU Morvan, Brest, France.
Juliette Mazereeuw-HautierService de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France.
Alban ZieglerDepartment of Genetics, University Hospital of Toulouse, Toulouse, France.ORCID http://orcid.org/0000-0003-2070-0242
Yves AlembikService de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Juliette PiardCentre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.
Elise Brischoux-BoucherCentre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.ORCID http://orcid.org/0000-0002-4816-1431
Léa Guerrini-RousseauDepartment of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France.ORCID http://orcid.org/0000-0003-0050-5407
Julia MoreraDepartment of Endocrinology and Diabetology, CHU Côte de Nacre, Caen, France.
Véronique Paquis-FlucklingerInserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, CHU de Nice, Nice, France.
Bruno DelobelService de génétique médicale, GH de l'Institut Catholique de Lille, Lille, France.
Jean-Luc Alessandriservice de pédiatrie, CHU Féleix Guyon, Saint-Denis, France.
Béatrice ParfaitInstitut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.
NF-France network
Pierre WolkensteinDepartment of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.
Eric PasmantInstitut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France eric.pasmant@inserm.fr.ORCID http://orcid.org/0000-0002-1881-8762
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders. NF1 is caused by dominant loss-of-function pathogenic variants (PVs) of the tumour-suppressor gene
methodsWe investigated a large, well-phenotyped NF1 cohort.
resultsWe report analyses of genotype-phenotype correlations in 112 NF1 patients with specific
conclusionThe current data confirms several genotype-phenotype correlations in NF1, which may be relevant to the management and surveillance of NF1 patients with specific
Indexed as
Genetic Association StudiesNeurofibromatosis 1Neurofibromin 1Point MutationAdolescentAdultChildChild, PreschoolFemaleGenetic Predisposition to DiseaseGenotypeHumansMaleMiddle AgedMutation, MissensePhenotypeNeurofibromin 1NF1 protein, humanGenetic Diseases, Inborn
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