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Page 1
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A. Seri M, et al. Among authors: cusano r. Medicine (Baltimore). 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. Medicine (Baltimore). 2003. PMID: 12792306 Free article.
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA. Seri M, et al. Among authors: cusano r. Nat Genet. 2000 Sep;26(1):103-5. doi: 10.1038/79063. Nat Genet. 2000. PMID: 10973259
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2.
Lo Nigro C, Cusano R, Scaranari M, Cinti R, Forabosco P, Morra VB, De Michele G, Santoro L, Davies S, Hurst J, Devoto M, Ravazzolo R, Seri M. Lo Nigro C, et al. Among authors: cusano r. Eur J Hum Genet. 2000 Oct;8(10):777-82. doi: 10.1038/sj.ejhg.5200546. Eur J Hum Genet. 2000. PMID: 11039578
A new candidate region for the positional cloning of the XLP gene.
Bolino A, Yin L, Seri M, Cusano R, Cinti R, Coffey A, Brooksbank R, Howell G, Bentley D, Davis JR, Lanyi A, Huang D, Stark M, Creaven M, Bjørkhaug L, Heitzmann F, Lamartine J, Gaudi S, Sylla BS, Lenoir GM, Castagnola E, Giacchino R, Porta G, Franco B, Zollo M, Sumegi J, Romeo G. Bolino A, et al. Among authors: cusano r. Eur J Hum Genet. 1998 Sep-Oct;6(5):509-17. doi: 10.1038/sj.ejhg.5200249. Eur J Hum Genet. 1998. PMID: 9801876
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.
Seri M, Cusano R, Forabosco P, Cinti R, Caroli F, Picco P, Bini R, Morra VB, De Michele G, Lerone M, Silengo M, Pela I, Borrone C, Romeo G, Devoto M. Seri M, et al. Among authors: cusano r. Am J Hum Genet. 1999 Feb;64(2):586-93. doi: 10.1086/302241. Am J Hum Genet. 1999. PMID: 9973297 Free PMC article.
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M. Gimelli G, et al. Among authors: cusano r. Hum Genet. 2002 Sep;111(3):235-41. doi: 10.1007/s00439-002-0791-6. Epub 2002 Aug 1. Hum Genet. 2002. PMID: 12215835
87 results