Mignon-Ravix C - Search Results

1

Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.

Khosrowabadi E, Mignon-Ravix C, Riccardi F, Cacciagli P, Desnous B, Sigaudy S, Milh M, Villard L, Kjellén L, Molinari F. Khosrowabadi E, et al. Among authors: mignon ravix c. Hum Mol Genet. 2024 Feb 28;33(6):520-529. doi: 10.1093/hmg/ddad203. Hum Mol Genet. 2024. PMID: 38129107

2

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.

Mignon-Ravix C, Riccardi F, Daquin G, Cacciagli P, Lamoureux-Toth S, Villard L, Villeneuve N, Molinari F. Mignon-Ravix C, et al. Epilepsia. 2023 Jun;64(6):e127-e134. doi: 10.1111/epi.17603. Epub 2023 Apr 17. Epilepsia. 2023. PMID: 37014259

3

Abaji M, Mignon-Ravix C, Gorokhova S, Cacciagli P, Mortreux J, Molinari F, Chabrol B, Sigaudy S, Villard L, Riccardi F. Abaji M, et al. Among authors: mignon ravix c. J Med Genet. 2023 Oct;60(10):1021-1025. doi: 10.1136/jmg-2022-108677. Epub 2023 Feb 27. J Med Genet. 2023. PMID: 36849228

4

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity.

Jdila MB, Mignon-Ravix C, Ncir SB, Kammoun F, Fakhfakh F, Villard L, Triki C. Jdila MB, et al. Among authors: mignon ravix c. Orphanet J Rare Dis. 2021 Jul 17;16(1):317. doi: 10.1186/s13023-021-01951-w. Orphanet J Rare Dis. 2021. PMID: 34273994 Free PMC article.

5

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium; Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altmüller J, Motameny S, Höhne W, Houlden H, Nürnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G. Iqbal M, et al. Among authors: mignon ravix c. Genet Med. 2021 Nov;23(11):2138-2149. doi: 10.1038/s41436-021-01260-4. Epub 2021 Jul 9. Genet Med. 2021. PMID: 34244665 Free PMC article.

6

Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria.

El Waly B, Mignon-Ravix C, Cacciagli P, Buhler E, Ben Zeev B, Villard L. El Waly B, et al. Among authors: mignon ravix c. Eur J Hum Genet. 2020 Dec;28(12):1703-1713. doi: 10.1038/s41431-020-0659-z. Epub 2020 Jun 2. Eur J Hum Genet. 2020. PMID: 32488097 Free PMC article.

7

Mosaicism of XX and XXY cells accounts for high copy number of Toll like Receptor 7 and 8 genes in peripheral blood of men with Rheumatoid Arthritis.

Martin GV, Kanaan SB, Hemon MF, Azzouz DF, El Haddad M, Balandraud N, Mignon-Ravix C, Picard C, Arnoux F, Martin M, Roudier J, Auger I, Lambert NC. Martin GV, et al. Among authors: mignon ravix c. Sci Rep. 2019 Sep 9;9(1):12880. doi: 10.1038/s41598-019-49309-4. Sci Rep. 2019. PMID: 31501466 Free PMC article.

8

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Denis J, Villeneuve N, Cacciagli P, Mignon-Ravix C, Lacoste C, Lefranc J, Napuri S, Damaj L, Villega F, Pedespan JM, Moutton S, Mignot C, Doummar D, Lion-François L, Gataullina S, Dulac O, Martin M, Gueden S, Lesca G, Julia S, Cances C, Journel H, Altuzarra C, Ben Zeev B, Afenjar A, Barth M, Villard L, Milh M. Denis J, et al. Among authors: mignon ravix c. Epilepsia. 2019 May;60(5):845-856. doi: 10.1111/epi.14727. Epub 2019 Apr 26. Epilepsia. 2019. PMID: 31026061

9

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.

Mignon-Ravix C, Milh M, Kaiser CS, Daniel J, Riccardi F, Cacciagli P, Nagara M, Busa T, Liebau E, Villard L. Mignon-Ravix C, et al. Hum Mutat. 2018 Jul;39(7):934-938. doi: 10.1002/humu.23534. Epub 2018 May 3. Hum Mutat. 2018. PMID: 29663568

10

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.

Villeneuve N, Abidi A, Cacciagli P, Mignon-Ravix C, Chabrol B, Villard L, Milh M. Villeneuve N, et al. Among authors: mignon ravix c. Eur J Paediatr Neurol. 2017 Sep;21(5):783-786. doi: 10.1016/j.ejpn.2017.04.001. Epub 2017 Apr 29. Eur J Paediatr Neurol. 2017. PMID: 28506426

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