Riccardi F - Search Results

1

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.

2

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports.

Gorokhov M, Cerino M, Mortreux J, Riccardi F, Lévy N, Bartoli M, Krahn M, Gorokhova S. Gorokhov M, et al. Among authors: riccardi f. Sci Rep. 2020 Apr 10;10(1):6247. doi: 10.1038/s41598-020-63079-4. Sci Rep. 2020. PMID: 32277129 Free PMC article.

3

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.

4

Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy.

Cerino M, Bartoli M, Riccardi F, Le Goanvic B, Blanck V, Salvi A, Lévy N, Krahn M, Choumert A. Cerino M, et al. Among authors: riccardi f. Ann Clin Transl Neurol. 2020 Dec;7(12):2538-2540. doi: 10.1002/acn3.51193. Epub 2020 Oct 27. Ann Clin Transl Neurol. 2020. PMID: 33107701 Free PMC article. No abstract available.

5

Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.

Riccardi F, Astier A, Grisval M, Maillard A, Michaud V, Badens C, Gordon CT, Trimouille A, Faivre L, Amiel J, Sigaudy S, Gorokhova S. Riccardi F, et al. Genet Med. 2021 Oct;23(10):2003-2004. doi: 10.1038/s41436-021-01208-8. Epub 2021 Jun 2. Genet Med. 2021. PMID: 34079076 Free article. No abstract available.

6

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: riccardi f. 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.

7

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: riccardi f. 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

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

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician's Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. Racine C, et al. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840

10

The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community.

Riccardi F, Marcinkute R, Azevedo Soares C, Calapod PS, Cerqueira JM, Avram E, Ding C; ESHG-Young committee. Riccardi F, et al. Eur J Hum Genet. 2022 Mar;30(3):252-255. doi: 10.1038/s41431-021-01019-0. Epub 2022 Jan 14. Eur J Hum Genet. 2022. PMID: 35027647 Free PMC article. No abstract available.

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