Cusano R - Search Results

1

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

2

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome.

Mori PG, Priolo M, Lerone M, Pasino M, Caroli F, Cusano R, Seri M, Silengo MC. Mori PG, et al. Among authors: cusano r. Am J Med Genet. 1999 Nov 5;87(1):36-9. Am J Med Genet. 1999. PMID: 10528244

3

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

Marini M, Cusano R, De Biasio P, Caroli F, Lerone M, Silengo M, Ravazzolo R, Seri M, Camera G. Marini M, et al. Among authors: cusano r. Am J Med Genet A. 2003 Mar 1;117A(2):112-5. doi: 10.1002/ajmg.a.10163. Am J Med Genet A. 2003. PMID: 12567406

4

Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.

Lo Nigro C, Cusano R, Gigli GL, Forabosco P, Valente M, Ravazzolo R, Diomedi M, Seri M. Lo Nigro C, et al. Among authors: cusano r. Am J Med Genet A. 2003 Mar 1;117A(2):116-21. doi: 10.1002/ajmg.a.10141. Am J Med Genet A. 2003. PMID: 12567407

5

Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.

Cusano R, Gangarossa S, Forabosco P, Caridi G, Ghiggeri GM, Russo G, Iolascon A, Ravazzolo R, Seri M. Cusano R, et al. Eur J Hum Genet. 2000 Nov;8(11):895-9. doi: 10.1038/sj.ejhg.5200533. Eur J Hum Genet. 2000. PMID: 11093280

6

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.

7

Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment.

Seri M, Martucciello G, Paleari L, Bolino A, Priolo M, Salemi G, Forabosco P, Caroli F, Cusano R, Tocco T, Lerone M, Cama A, Torre M, Guys JM, Romeo G, Jasonni V. Seri M, et al. Among authors: cusano r. Hum Genet. 1999 Jan;104(1):108-10. doi: 10.1007/s004390050919. Hum Genet. 1999. PMID: 10071202

8

HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders.

Fava M, Borghini S, Cinti R, Cusano R, Seri M, Lerone M, De Giorgio R, Stanghellini V, Martucciello G, Ravazzolo R, Ceccherini I. Fava M, et al. Among authors: cusano r. Int J Mol Med. 2002 Jul;10(1):101-6. Int J Mol Med. 2002. PMID: 12060859

9

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

10

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.

Marini M, Bongers EM, Cusano R, Di Duca M, Seri M, Knoers NV, Ravazzolo R. Marini M, et al. Among authors: cusano r. Int J Mol Med. 2003 Jul;12(1):79-82. Int J Mol Med. 2003. PMID: 12792813

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