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Year Number of Results
2018 1
2019 3
2020 1
2021 1
2022 2
2023 6
2024 3

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14 results

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Page 1
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Ebstein F, Latypova X, Sharon Hung KY, Prado MA, Lee BH, Möller S, Wendlandt M, Zieba BA, Florenceau L, Vignard V, Poirier L, Toutain B, Moroni I, Dubucs C, Chassaing N, Horvath J, Prokisch H, Küry S, Bézieau S, Paulo JA, Finley D, Krüger E, Ghezzi D, Isidor B. Ebstein F, et al. Among authors: dubucs c. Genet Med. 2024 Mar 10;26(6):101120. doi: 10.1016/j.gim.2024.101120. Online ahead of print. Genet Med. 2024. PMID: 38469793 Free article.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C. Courdier C, et al. Among authors: dubucs c. Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23. Prenat Diagn. 2023. PMID: 36914926 Free article.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM. Zhang LX, et al. Among authors: dubucs c. Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19. Genet Med. 2020. PMID: 32424177 Free PMC article. Review.
Muscular phenotype description of abnormal THOC2 splicing.
Dubucs C, Rendu J, Michel-Calemard L, Menassa R, Langeois M, Nicaise Y, Ousselin J, Aziza J, Uro-Coste E. Dubucs C, et al. Neuromuscul Disord. 2023 Dec;33(12):978-982. doi: 10.1016/j.nmd.2023.09.009. Epub 2023 Oct 5. Neuromuscul Disord. 2023. PMID: 37945483
Severe placental lesions due to maternal SARS-CoV-2 infection associated to intrauterine fetal death.
Dubucs C, Groussolles M, Ousselin J, Sartor A, Van Acker N, Vayssière C, Pasquier C, Reyre J, Batlle L, Favarel Clinical Research Associate S, Duchanois Midwife D, Jauffret Clinical Research Associate V, Courtade-Saïdi M, Aziza J. Dubucs C, et al. Hum Pathol. 2022 Mar;121:46-55. doi: 10.1016/j.humpath.2021.12.012. Epub 2022 Jan 5. Hum Pathol. 2022. PMID: 34995674 Free PMC article.
Two novel tumours with NTRK2 fusion in the methylation class of extraventricular neurocytomas, including one intraventricular.
Uro-Coste E, Tauziede-Espariat A, Dubucs C, Chiforeanu DC, Siegfried A, Nicaise Y, Bauchet L, Riffaud L, Bielle F, Vasiljevic A, Appay R, Evrard S, Varlet P, Rigau V; Biopathology RENOCLIP‐LOC network. Uro-Coste E, et al. Among authors: dubucs c. Brain Pathol. 2024 May;34(3):e13223. doi: 10.1111/bpa.13223. Epub 2023 Nov 23. Brain Pathol. 2024. PMID: 37994695 Free PMC article.
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.
Guissart C, Tran Mau Them F, Debant V, Viart V, Dubucs C, Pritchard V, Rouzier C, Boureau-Wirth A, Haquet E, Puechberty J, Bieth E, Khau Van Kien P, Brechard MP, Raynal C, Girardet A, Claustres M, Koenig M, Vincent MC. Guissart C, et al. Among authors: dubucs c. Fetal Diagn Ther. 2019;45(6):403-412. doi: 10.1159/000489776. Epub 2018 Aug 17. Fetal Diagn Ther. 2019. PMID: 30121677
Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1-rearranged neoplasia.
Siegfried A, Masliah-Planchon J, Roux FE, Larrieu-Ciron D, Pierron G, Nicaise Y, Gambart M, Catalaa I, Péricart S, Dubucs C, Mohand-Oumoussa B, Tirode F, Bourdeaut F, Uro-Coste E. Siegfried A, et al. Among authors: dubucs c. Acta Neuropathol Commun. 2019 Dec 30;7(1):220. doi: 10.1186/s40478-019-0870-8. Acta Neuropathol Commun. 2019. PMID: 31888756 Free PMC article. No abstract available.
14 results