Spadoni E - Search Results

1

Genetic heterogeneity for a Nijmegen breakage-like syndrome.

Maraschio P, Spadoni E, Tanzarella C, Antoccia A, Di Masi A, Maghnie M, Varon R, Demuth I, Tiepolo L, Danesino C. Maraschio P, et al. Among authors: spadoni e. Clin Genet. 2003 Apr;63(4):283-90. doi: 10.1034/j.1399-0004.2003.00054.x. Clin Genet. 2003. PMID: 12702161

2

Chromosome instability and nibrin protein variants in NBS heterozygotes.

Tanzanella C, Antoccia A, Spadoni E, di Masi A, Pecile V, Demori E, Varon R, Marseglia GL, Tiepolo L, Maraschio P. Tanzanella C, et al. Among authors: spadoni e. Eur J Hum Genet. 2003 Apr;11(4):297-303. doi: 10.1038/sj.ejhg.5200962. Eur J Hum Genet. 2003. PMID: 12708449

3

Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

Varon R, Dutrannoy V, Weikert G, Tanzarella C, Antoccia A, Stöckl L, Spadoni E, Krüger LA, di Masi A, Sperling K, Digweed M, Maraschio P. Varon R, et al. Among authors: spadoni e. Hum Mol Genet. 2006 Mar 1;15(5):679-89. doi: 10.1093/hmg/ddi482. Epub 2006 Jan 13. Hum Mol Genet. 2006. PMID: 16415040

4

Screening of Nijmegen breakage syndrome 1 mutations in four unrelated families by polymerase chain reaction using sequence-specific primers.

Di Masi A, Antoccia A, Spadoni E, Varon-Mateeva R, Maraschio P, Tanzarella C. Di Masi A, et al. Among authors: spadoni e. Genet Test. 2006 Spring;10(1):24-30. doi: 10.1089/gte.2006.10.24. Genet Test. 2006. PMID: 16544999

5

Smith-Magenis syndrome and growth hormone deficiency.

Spadoni E, Colapietro P, Bozzola M, Marseglia GL, Repossi L, Danesino C, Larizza L, Maraschio P. Spadoni E, et al. Eur J Pediatr. 2004 Jul;163(7):353-8. doi: 10.1007/s00431-004-1460-7. Epub 2004 May 8. Eur J Pediatr. 2004. PMID: 15138811 Free article.

6

Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome.

Spadoni E, Castelnovi C, Maraschio P, Stacul E, Beluffi G, Bozzola M, Danesino C. Spadoni E, et al. Am J Med Genet A. 2004 Jul 1;128A(1):57-9. doi: 10.1002/ajmg.a.30037. Am J Med Genet A. 2004. PMID: 15211658

7

Familial biliary atresia.

Danesino C, Spadoni E, Buzzi A. Danesino C, et al. Among authors: spadoni e. Am J Med Genet. 1999 Jul 16;85(2):195. Am J Med Genet. 1999. PMID: 10406679 No abstract available.

8

Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome.

Lisi V, Guala A, Lopez A, Vitali M, Spadoni E, Olivieri C, Danesino C, Mottes M. Lisi V, et al. Among authors: spadoni e. Genet Couns. 2002;13(2):163-70. Genet Couns. 2002. PMID: 12150217

9

Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.

Rinne T, Spadoni E, Kjaer KW, Danesino C, Larizza D, Kock M, Huoponen K, Savontaus ML, Aaltonen M, Duijf P, Brunner HG, Penttinen M, van Bokhoven H. Rinne T, et al. Among authors: spadoni e. Eur J Hum Genet. 2006 Aug;14(8):904-10. doi: 10.1038/sj.ejhg.5201640. Epub 2006 May 17. Eur J Hum Genet. 2006. PMID: 16724007

10

Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications.

Verri A, Maraschio P, Devriendt K, Uggetti C, Spadoni E, Haeusler E, Federico A. Verri A, et al. Among authors: spadoni e. Ann Genet. 2004 Jul-Sep;47(3):281-7. doi: 10.1016/j.anngen.2004.03.001. Ann Genet. 2004. PMID: 15337474

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