Listar Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 por autor "FERGELOT, Patricia"
Mostrando ítems 1-10 de 10
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
HUSSON, Thomas; LECOQUIERRE, François; NICOLAS, Gaël ...(European Journal of Human Genetics, 2023-10-23)Article de revueLibre acceso -
Clinical description and mutational profile of a moroccan series of patients with rubinstein taybi syndrome
CHAFAI ELALAOUI, Siham; SMAILI, Wiam; VAN-GILS, Julien ...(African Health Sciences. vol. 21, n° 2, pp. 960-967, 2021-08-02)Article de revueLibre acceso -
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for -Related Syndrome.
FOROUTAN, Aidin; HAGHSHENAS, Sadegheh; BHAI, Pratibha ...(International Journal of Molecular Sciences. vol. 23, n° 3, 2022-02-05)Article de revueLibre acceso -
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
DE THONEL, Aurelie; AHLSKOG, Johanna K; DAUPIN, Kevin ...(Nature Communications. vol. 13, n° 1, pp. 7002, 2022-11-16)Article de revueLibre acceso -
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
ANGELINI, Chloe; DURAND, Christelle Marie; FERGELOT, Patricia ...(Movement Disorders. vol. 38, n° 11, pp. 2103-2115, 2023-11-01)Article de revueLibre acceso -
Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.
DE THONEL, Aurélie; AHLSKOG, Johanna K; DAUPIN, Kevin ...(Nature Communications. vol. 14, n° 1, pp. 6067, 2023-09-28)Article de revueLibre acceso -
ARF1-related disorder: phenotypic and molecular spectrum
DE SAINTE AGATHE, Jean-Madeleine; PODE-SHAKKED, Ben; NAUDION, Sophie ...(Journal of Medical Genetics. vol. 60, n° 10, pp. 999-1005, 2023-04-25)Article de revueLibre acceso -
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
HAGHSHENAS, Sadegheh; BOUT, Hidde J; SCHIJNS, Josephine M ...(Human Genetics and Genomics Advances. vol. 5, n° 3, pp. 100287, 2024-03-29)Article de revueLibre acceso -
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
LACOMBE, Didier; BLOCH-ZUPAN, Agnès; BREDRUP, Cecilie ...(Journal of Medical Genetics. vol. 61, n° 6, pp. 503-519, 2024-05-21)Article de revueLibre acceso -
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
COURSIMAULT, Juliette; CASSINARI, Kevin; LECOQUIERRE, François ...(Human Mutation. vol. 43, n° 12, pp. 1882-1897, 2022-12-01)Article de revueLibre acceso