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CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K. Oppermann H, et al. Among authors: pavlidou dc. Eur J Hum Genet. 2023 Nov;31(11):1251-1260. doi: 10.1038/s41431-023-01445-2. Epub 2023 Aug 30. Eur J Hum Genet. 2023. PMID: 37644171 Free PMC article.
[Constitutional diseases of bone: clinical flags].
Debrach AC, Brégou A, Gonzalez Rodriguez E, Pejin Z, Kumps C, Craig A, Pavlidou DC, Atallah I. Debrach AC, et al. Among authors: pavlidou dc. Rev Med Suisse. 2023 Apr 19;19(823):766-769. doi: 10.53738/REVMED.2023.19.823.766. Rev Med Suisse. 2023. PMID: 37133958 French.
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
Redin C, Pavlidou DC, Bhuiyan Z, Porretta AP, Monney P, Bedoni N, Maurer F, Sekarski N, Atallah I, Émeline D, Jeanrenaud X, Pruvot E, Fellay J, Superti-Furga A. Redin C, et al. Among authors: pavlidou dc. Eur J Med Genet. 2022 Dec;65(12):104627. doi: 10.1016/j.ejmg.2022.104627. Epub 2022 Sep 24. Eur J Med Genet. 2022. PMID: 36162733 Free article.
When Simple Phlebotomy Is the Cure: Porphyria Cutanea Tarda.
Pavlidou DC, Van Winckel G, Tran C. Pavlidou DC, et al. J Gen Intern Med. 2022 Oct;37(13):3489-3490. doi: 10.1007/s11606-022-07740-w. Epub 2022 Jul 25. J Gen Intern Med. 2022. PMID: 35879535 Free PMC article. No abstract available.