Riccardi F - Search Results

1

Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.

Desnous B, Carles G, Riccardi F, Stremler N, Baravalle M, El-Louali F, Testud B, Milh M. Desnous B, et al. Among authors: riccardi f. Prenat Diagn. 2024 Mar;44(3):364-368. doi: 10.1002/pd.6505. Epub 2023 Dec 26. Prenat Diagn. 2024. PMID: 38148030

2

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. Among authors: riccardi f. Hum Mutat. 2018 Jul;39(7):934-938. doi: 10.1002/humu.23534. Epub 2018 May 3. Hum Mutat. 2018. PMID: 29663568

3

Genetics of neonatal onset epilepsies: An overview.

Milh M, Riccardi F, Denis J. Milh M, et al. Among authors: riccardi f. Rev Neurol (Paris). 2020 Jan-Feb;176(1-2):2-9. doi: 10.1016/j.neurol.2019.01.396. Epub 2019 May 14. Rev Neurol (Paris). 2020. PMID: 31097300 Review.

4

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: riccardi f. Hum Mol Genet. 2024 Feb 28;33(6):520-529. doi: 10.1093/hmg/ddad203. Hum Mol Genet. 2024. PMID: 38129107

5

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

Cetica V, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, Marjanovic D, Rougeot-Jung C, Jung J, Lesieur-Sebellin M, Accogli A, Salpietro V, Saadi NW, Panagiotakaki E, Foiadelli T, Redon S, Tsai MH, Bisulli F, Hammer TB, Lupski JR, Parrini E, Guerrini R; YWHAG Study Group. Cetica V, et al. Among authors: riccardi f. Epilepsia. 2024 May;65(5):1439-1450. doi: 10.1111/epi.17939. Epub 2024 Mar 16. Epilepsia. 2024. PMID: 38491959

6

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. Among authors: riccardi f. Epilepsia. 2023 Jun;64(6):e127-e134. doi: 10.1111/epi.17603. Epub 2023 Apr 17. Epilepsia. 2023. PMID: 37014259

7

Multiple venous malformations revealing a familial cerebral cavernomatosis.

Benzaquen M, Fareau J, Riccardi F, Philip-Sarles N, Bertrand F, Berbis P, Delaporte E. Benzaquen M, et al. Among authors: riccardi f. Clin Exp Dermatol. 2020 Mar;45(2):263-264. doi: 10.1111/ced.14051. Epub 2019 Aug 22. Clin Exp Dermatol. 2020. PMID: 31323127 No abstract available.

8

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N. Goldenberg A, et al. Among authors: riccardi f. Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8. Am J Med Genet A. 2016. PMID: 27605097

9

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.

Cerino M, Di Meglio C, Albertini F, Audic F, Riccardi F, Boulay C, Philip N, Bartoli M, Lévy N, Krahn M, Chabrol B. Cerino M, et al. Among authors: riccardi f. Mol Genet Genomic Med. 2020 Aug;8(8):e1277. doi: 10.1002/mgg3.1277. Epub 2020 Jun 14. Mol Genet Genomic Med. 2020. PMID: 32537934 Free PMC article.

10

Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.

Charnay T, Blanck V, Cerino M, Bartoli M, Riccardi F, Bonello-Palot N, Pécheux C, Nguyen K, Lévy N, Gorokhova S, Krahn M. Charnay T, et al. Among authors: riccardi f. Genet Med. 2021 Aug;23(8):1574-1577. doi: 10.1038/s41436-021-01164-3. Epub 2021 Apr 29. Genet Med. 2021. PMID: 33927379 Free article.

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