Dallapiccola B - Search Results

1

Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.

Pizzuti A, Bottillo I, Inzana F, Lanari V, Buttarelli F, Torrente I, Giallonardo AT, De Luca A, Dallapiccola B. Pizzuti A, et al. Among authors: dallapiccola b. Neurogenetics. 2011 Aug;12(3):233-40. doi: 10.1007/s10048-011-0278-5. Epub 2011 Mar 2. Neurogenetics. 2011. PMID: 21365283

2

Different expression of the myotonin protein kinase gene in discrete areas of human brain.

Gennarelli M, Lucarelli M, Zelano G, Pizzuti A, Novelli G, Dallapiccola B. Gennarelli M, et al. Among authors: dallapiccola b. Biochem Biophys Res Commun. 1995 Nov 13;216(2):489-94. doi: 10.1006/bbrc.1995.2649. Biochem Biophys Res Commun. 1995. PMID: 7488138

3

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

Gennarelli M, Lucarelli M, Capon F, Pizzuti A, Merlini L, Angelini C, Novelli G, Dallapiccola B. Gennarelli M, et al. Among authors: dallapiccola b. Biochem Biophys Res Commun. 1995 Aug 4;213(1):342-8. doi: 10.1006/bbrc.1995.2135. Biochem Biophys Res Commun. 1995. PMID: 7639755

4

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families.

Capon F, Levato C, Semprini S, Pizzuti A, Merlini L, Novelli G, Dallapiccola B. Capon F, et al. Among authors: dallapiccola b. Muscle Nerve. 1996 Mar;19(3):378-80. doi: 10.1002/(SICI)1097-4598(199603)19:3<378::AID-MUS17>3.0.CO;2-O. Muscle Nerve. 1996. PMID: 8606706 No abstract available.

5

How many breaks do we need to CATCH on 22q11?

Dallapiccola B, Pizzuti A, Novelli G. Dallapiccola B, et al. Am J Hum Genet. 1996 Jul;59(1):7-11. Am J Hum Genet. 1996. PMID: 8659546 Free PMC article. Review. No abstract available.

6

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.

Capon F, Levato C, Bussaglia E, Lo Cicero S, Tizzano EF, Baiget M, Silani V, Pizzuti A, Novelli G, Dallapiccola B. Capon F, et al. Among authors: dallapiccola b. Hum Mutat. 1996;7(3):198-201. doi: 10.1002/(SICI)1098-1004(1996)7:3<198::AID-HUMU3>3.0.CO;2-7. Hum Mutat. 1996. PMID: 8829652

7

Expression study of survival motor neuron gene in human fetal tissues.

Novelli G, Calzà L, Amicucci P, Giardino L, Pozza M, Silani V, Pizzuti A, Gennarelli M, Piombo G, Capon F, Dallapiccola B. Novelli G, et al. Among authors: dallapiccola b. Biochem Mol Med. 1997 Jun;61(1):102-6. doi: 10.1006/bmme.1997.2590. Biochem Mol Med. 1997. PMID: 9232204

8

First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers.

Torrente I, Mangino M, De Luca A, Mingarelli R, Gennarelli M, Giannotti A, Novelli G, Dallapiccola B. Torrente I, et al. Among authors: dallapiccola b. Prenat Diagn. 1998 May;18(5):504-6. Prenat Diagn. 1998. PMID: 9621386

9

From genetic research into clinical practice.

Dallapiccola B, Torrente I, Mingarelli R, Novelli G. Dallapiccola B, et al. Acta Genet Med Gemellol (Roma). 1997;46(3):139-46. doi: 10.1017/s0001566000000556. Acta Genet Med Gemellol (Roma). 1997. PMID: 9645231

10

A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.

De Luca A, Torrente I, Mangino M, Bertini E, Dallapiccola B, Novelli G. De Luca A, et al. Among authors: dallapiccola b. Hum Hered. 1999 Jan;49(1):59-60. doi: 10.1159/000022843. Hum Hered. 1999. PMID: 9858861

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