Cianchetti C - Search Results

1

Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes.

Nucaro AL, Rossino R, Pruna D, Rassu S, Cianchetti C, Cao A, Moi P. Nucaro AL, et al. Among authors: cianchetti c. Prenat Diagn. 2006 May;26(5):418-9. doi: 10.1002/pd.1427. Prenat Diagn. 2006. PMID: 16532523

2

Ring chromosome 14 mosaicism: an unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH.

Nucaro AL, Falchi M, Pisano T, Rossino R, Boscarelli F, Stoico G, Milia A, Montaldo C, Cianchetti C, Pruna D. Nucaro AL, et al. Among authors: cianchetti c. Am J Med Genet A. 2010 Jan;152A(1):234-6. doi: 10.1002/ajmg.a.33167. Am J Med Genet A. 2010. PMID: 20034090 No abstract available.

3

A family with segregation of an unbalanced translocation (7;13) (q36;q32) in three patients with severe mental retardation, microcephaly and dysmorphic features, detected by subtelomere FISH: genetic counselling and prenatal diagnosis.

Nucaro A, Crisponi G, Minafra L, Rossino R, Cianchetti C. Nucaro A, et al. Among authors: cianchetti c. Genet Couns. 2008;19(1):37-42. Genet Couns. 2008. PMID: 18564499

4

Progressive spastic paraplegia as a feature of tetrasomy 18p.

Nucaro A, Chillotti I, Pisano T, Pruna D, Cianchetti C. Nucaro A, et al. Among authors: cianchetti c. Am J Med Genet A. 2010 Sep;152A(9):2173-5. doi: 10.1002/ajmg.a.33576. Am J Med Genet A. 2010. PMID: 20684001 No abstract available.

5

Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members.

Nucaro AL, Meloni M, Pisano T, Melis P, Rossi E, Rossino R, Corona S, Loi M, Achena F, Zuffardi O, Cianchetti C. Nucaro AL, et al. Among authors: cianchetti c. Am J Med Genet A. 2008 Dec 15;146A(24):3242-5. doi: 10.1002/ajmg.a.32590. Am J Med Genet A. 2008. PMID: 19012344 No abstract available.

6

Epileptic seizures and headache/migraine: a review of types of association and terminology.

Cianchetti C, Pruna D, Ledda M. Cianchetti C, et al. Seizure. 2013 Nov;22(9):679-85. doi: 10.1016/j.seizure.2013.05.017. Epub 2013 Jul 3. Seizure. 2013. PMID: 23831147 Free article. Review.

7

Definitions need to be consistent with the facts. Reply to Parisi et al.

Cianchetti C, Pruna D, Ledda MG. Cianchetti C, et al. Cephalalgia. 2014 Feb;34(2):154-5. doi: 10.1177/0333102413499250. Epub 2013 Aug 5. Cephalalgia. 2014. PMID: 23918836 No abstract available.

8

Terminology should be as simple as possible and should express the concepts clearly.

Cianchetti C, Pruna D, Ledda MG. Cianchetti C, et al. Seizure. 2013 Nov;22(9):800. doi: 10.1016/j.seizure.2013.07.016. Epub 2013 Aug 8. Seizure. 2013. PMID: 23972998 Free article. No abstract available.

9

Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly.

Pisano T, Meloni M, Cianchetti C, Falchi M, Nucaro A, Pruna D. Pisano T, et al. Among authors: cianchetti c. J Child Neurol. 2008 Aug;23(8):916-8. doi: 10.1177/0883073808315623. Epub 2008 May 12. J Child Neurol. 2008. PMID: 18474936

10

Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation.

Pisano T, Marini C, Brovedani P, Brizzolara D, Pruna D, Mei D, Moro F, Cianchetti C, Guerrini R. Pisano T, et al. Among authors: cianchetti c. Epilepsia. 2005 Jan;46(1):118-23. doi: 10.1111/j.0013-9580.2005.26304.x. Epilepsia. 2005. PMID: 15660777 Free article.

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