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133 results
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De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Dias KR, Carlston CM, Blok LER, De Hayr L, Nawaz U, Evans CA, Bayrak-Toydemir P, Htun S, Zhu Y, Ma A, Lynch SA, Moorwood C, Stals K, Ellard S, Bainbridge MN, Friedman J, Pappas JG, Rabin R, Nowak CB, Douglas J, Wilson TE, Guillen Sacoto MJ, Mullegama SV, Palculict TB, Kirk EP, Pinner JR, Edwards M, Montanari F, Graziano C, Pippucci T, Dingmann B, Glass I, Mefford HC, Shimoji T, Suzuki T, Yamakawa K, Streff H, Schaaf CP, Slavotinek AM, Voineagu I, Carey JC, Buckley MF, Schenck A, Harvey RJ, Roscioli T. Dias KR, et al. Among authors: graziano c. Genet Med. 2022 Sep;24(9):1952-1966. doi: 10.1016/j.gim.2022.06.001. Epub 2022 Aug 1. Genet Med. 2022. PMID: 35916866 Free article.
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.
Hirsch N, Dahan I, D'haene E, Avni M, Vergult S, Vidal-García M, Magini P, Graziano C, Severi G, Bonora E, Nardone AM, Brancati F, Fernández-Jaén A, Rory OJ, Hallgrímsson B, Birnbaum RY. Hirsch N, et al. Among authors: graziano c. Genome Res. 2022 Jul;32(7):1242-1253. doi: 10.1101/gr.276196.121. Epub 2022 Jun 16. Genome Res. 2022. PMID: 35710300 Free PMC article.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V. Angelozzi M, et al. Among authors: graziano c. J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1. J Med Genet. 2022. PMID: 35232796 Free PMC article.
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Among authors: graziano c. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
MR Brain Screening in ADPKD Patients : To Screen or not to Screen?
Capelli I, Zoli M, Righini M, Faccioli L, Aiello V, Spinardi L, Gori D, Friso F, Rustici A, Bortolotti C, Graziano C, Mantovani V, Sciascia N, Mazzatenta D, Seri M, Pastore Trossello M, La Manna G. Capelli I, et al. Among authors: graziano c. Clin Neuroradiol. 2022 Mar;32(1):69-78. doi: 10.1007/s00062-021-01050-0. Epub 2021 Sep 29. Clin Neuroradiol. 2022. PMID: 34586427 Free PMC article.
133 results