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260 results

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Page 1
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR. Van Houdt JK, et al. Among authors: castori m. Nat Genet. 2012 Feb 26;44(4):445-9, S1. doi: 10.1038/ng.1105. Nat Genet. 2012. PMID: 22366787
Novel mutations of the PRKAR1A gene in patients with acrodysostosis.
Muhn F, Klopocki E, Graul-Neumann L, Uhrig S, Colley A, Castori M, Lankes E, Henn W, Gruber-Sedlmayr U, Seifert W, Horn D. Muhn F, et al. Among authors: castori m. Clin Genet. 2013 Dec;84(6):531-8. doi: 10.1111/cge.12106. Epub 2013 Feb 21. Clin Genet. 2013. PMID: 23425300
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.
Writzl K, Maver A, Kovačič L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg ABP, Radović S, Thauvin-Robinet C, Peterlin B, Del Arco A, Hennekam RC. Writzl K, et al. Among authors: castori m. Am J Hum Genet. 2017 Nov 2;101(5):844-855. doi: 10.1016/j.ajhg.2017.09.017. Am J Hum Genet. 2017. PMID: 29100094 Free PMC article.
Novel and recurrent p14 mutations in Italian familial melanoma.
Binni F, Antigoni I, De Simone P, Majore S, Silipo V, Crisi A, Amantea A, Pacchiarini D, Castori M, De Bernardo C, Catricalà C, Grammatico P. Binni F, et al. Among authors: castori m. Clin Genet. 2010 Jun;77(6):581-6. doi: 10.1111/j.1399-0004.2009.01298.x. Epub 2010 Feb 4. Clin Genet. 2010. PMID: 20132244
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Leone MP, Palumbo P, Palumbo O, Di Muro E, Chetta M, Laforgia N, Resta N, Stella A, Castellana S, Mazza T, Castori M, Carella M, Bukvic N. Leone MP, et al. Among authors: castori m. Ital J Pediatr. 2020 May 27;46(1):74. doi: 10.1186/s13052-020-00839-y. Ital J Pediatr. 2020. PMID: 32460883 Free PMC article.
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E; International Joubert Syndrome Related Disorders Study Group; Bertini E, Dallapiccola B, Gleeson JG. Valente EM, et al. Among authors: castori m. Nat Genet. 2006 Jun;38(6):623-5. doi: 10.1038/ng1805. Epub 2006 May 7. Nat Genet. 2006. PMID: 16682970
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
Zampatti S, Castori M, Fischer B, Ferrari P, Garavelli L, Dionisi-Vici C, Agolini E, Wischmeijer A, Morava E, Novelli G, Häberle J, Kornak U, Brancati F. Zampatti S, et al. Among authors: castori m. Am J Med Genet A. 2012 Apr;158A(4):927-31. doi: 10.1002/ajmg.a.35231. Epub 2012 Mar 12. Am J Med Genet A. 2012. PMID: 22411858 No abstract available.
260 results