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Page 1
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Küry S, Bézieau S, Uguen K, Férec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Peña L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP. Fountain MD, et al. Among authors: parenti i. Genet Med. 2019 Aug;21(8):1797-1807. doi: 10.1038/s41436-019-0433-1. Epub 2019 Jan 25. Genet Med. 2019. PMID: 30679821 Free PMC article.
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.
Parenti I, Gervasini C, Pozojevic J, Graul-Neumann L, Azzollini J, Braunholz D, Watrin E, Wendt KS, Cereda A, Cittaro D, Gillessen-Kaesbach G, Lazarevic D, Mariani M, Russo S, Werner R, Krawitz P, Larizza L, Selicorni A, Kaiser FJ. Parenti I, et al. Clin Genet. 2016 Jan;89(1):74-81. doi: 10.1111/cge.12564. Epub 2015 Feb 25. Clin Genet. 2016. PMID: 25652421 Free article.
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D. Bramswig NC, et al. Among authors: parenti i. Hum Genet. 2015 Jun;134(6):553-68. doi: 10.1007/s00439-015-1535-8. Epub 2015 Feb 28. Hum Genet. 2015. PMID: 25724810 Clinical Trial.
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
Parenti I, Gervasini C, Pozojevic J, Wendt KS, Watrin E, Azzollini J, Braunholz D, Buiting K, Cereda A, Engels H, Garavelli L, Glazar R, Graffmann B, Larizza L, Lüdecke HJ, Mariani M, Masciadri M, Pié J, Ramos FJ, Russo S, Selicorni A, Stefanova M, Strom TM, Werner R, Wierzba J, Zampino G, Gillessen-Kaesbach G, Wieczorek D, Kaiser FJ. Parenti I, et al. Clin Genet. 2016 May;89(5):564-73. doi: 10.1111/cge.12717. Epub 2016 Jan 25. Clin Genet. 2016. PMID: 26671848
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Parenti I, Teresa-Rodrigo ME, Pozojevic J, Ruiz Gil S, Bader I, Braunholz D, Bramswig NC, Gervasini C, Larizza L, Pfeiffer L, Ozkinay F, Ramos F, Reiz B, Rittinger O, Strom TM, Watrin E, Wendt K, Wieczorek D, Wollnik B, Baquero-Montoya C, Pié J, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Hum Genet. 2017 Mar;136(3):307-320. doi: 10.1007/s00439-017-1758-y. Epub 2017 Jan 24. Hum Genet. 2017. PMID: 28120103
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC. Huisman S, et al. Among authors: parenti i. Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26. Am J Med Genet A. 2017. PMID: 28548707
Novel mosaic variants in two patients with Cornelia de Lange syndrome.
Pozojevic J, Parenti I, Graul-Neumann L, Ruiz Gil S, Watrin E, Wendt KS, Werner R, Strom TM, Gillessen-Kaesbach G, Kaiser FJ. Pozojevic J, et al. Among authors: parenti i. Eur J Med Genet. 2018 Nov;61(11):680-684. doi: 10.1016/j.ejmg.2017.11.004. Epub 2017 Nov 15. Eur J Med Genet. 2018. PMID: 29155047
Chromatinopathies: A focus on Cornelia de Lange syndrome.
Avagliano L, Parenti I, Grazioli P, Di Fede E, Parodi C, Mariani M, Kaiser FJ, Selicorni A, Gervasini C, Massa V. Avagliano L, et al. Among authors: parenti i. Clin Genet. 2020 Jan;97(1):3-11. doi: 10.1111/cge.13674. Epub 2019 Nov 24. Clin Genet. 2020. PMID: 31721174 Review.
39 results