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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.
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
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
Fontaine-Farriaux craniosynostosis: second report in the literature.
Priolo M, De Toni T, Baffico M, Cama A, Seri M, Cusano R, Costabello L, Fondelli P, Capra V, Silengo M, Ravazzolo R, Lerone M. Priolo M, et al. Among authors: cusano r. Am J Med Genet. 2001 May 1;100(3):214-8. Am J Med Genet. 2001. PMID: 11343306
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
86 results