Dallapiccola B - Search Results

1

A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.

Pizzuti A, Calabrese G, Bozzali M, Telvi L, Morizio E, Guida V, Gatta V, Stuppia L, Ion A, Palka G, Dallapiccola B. Pizzuti A, et al. Among authors: dallapiccola b. Invest Ophthalmol Vis Sci. 2002 Dec;43(12):3609-12. Invest Ophthalmol Vis Sci. 2002. PMID: 12454025

2

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene.

Calabrese G, Stuppia L, Morizio E, Guanciali Franchi P, Pompetti F, Mingarelli R, Marsilio T, Rocchi M, Gallenga PE, Palka G, Dallapiccola B. Calabrese G, et al. Among authors: dallapiccola b. Eur J Hum Genet. 1998 May-Jun;6(3):187-93. doi: 10.1038/sj.ejhg.5200173. Eur J Hum Genet. 1998. PMID: 9781021

3

Fetal translocation between chromosomes 2, 18, and 21 resolved by fish.

Delaroche I, Sabani M, Calabrese G, Mingarelli R, Palka G, Dallapiccola B. Delaroche I, et al. Among authors: dallapiccola b. Prenat Diagn. 1995 Mar;15(3):278-81. doi: 10.1002/pd.1970150312. Prenat Diagn. 1995. PMID: 7784387

4

A genetic assessment of trisomy 21 in a patient with persistent truncus arteriosus who died 38 years ago.

Francalanci P, Gallo P, Dallapiccola B, Calabrese G, Marino B. Francalanci P, et al. Among authors: dallapiccola b. Am J Cardiol. 1997 Jan 15;79(2):245-7. doi: 10.1016/s0002-9149(97)89293-4. Am J Cardiol. 1997. PMID: 9193040

5

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.

Salehi LB, Mangino M, De Serio S, De Cicco D, Capon F, Semprini S, Pizzuti A, Novelli G, Dallapiccola B. Salehi LB, et al. Among authors: dallapiccola b. Hum Genet. 2002 Oct;111(4-5):401-4. doi: 10.1007/s00439-002-0785-4. Epub 2002 Aug 21. Hum Genet. 2002. PMID: 12384783

6

Functional analysis of splicing mutations in exon 7 of NF1 gene.

Bottillo I, De Luca A, Schirinzi A, Guida V, Torrente I, Calvieri S, Gervasini C, Larizza L, Pizzuti A, Dallapiccola B. Bottillo I, et al. Among authors: dallapiccola b. BMC Med Genet. 2007 Feb 12;8:4. doi: 10.1186/1471-2350-8-4. BMC Med Genet. 2007. PMID: 17295913 Free PMC article.

7

An ATG repeat in the 3'-untranslated region of the human resistin gene is associated with a decreased risk of insulin resistance.

Pizzuti A, Argiolas A, Di Paola R, Baratta R, Rauseo A, Bozzali M, Vigneri R, Dallapiccola B, Trischitta V, Frittitta L. Pizzuti A, et al. Among authors: dallapiccola b. J Clin Endocrinol Metab. 2002 Sep;87(9):4403-6. doi: 10.1210/jc.2002-020096. J Clin Endocrinol Metab. 2002. PMID: 12213907

8

Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles.

Colosimo A, Guida V, De Luca A, Cappabianca MP, Bianco I, Palka G, Dallapiccola B. Colosimo A, et al. Among authors: dallapiccola b. Hum Mutat. 2002 Mar;19(3):287-95. doi: 10.1002/humu.10046. Hum Mutat. 2002. PMID: 11857746

9

Extrachromosomal genes: a powerful tool in gene targeting approaches.

Colosimo A, Guida V, Palka G, Dallapiccola B. Colosimo A, et al. Among authors: dallapiccola b. Gene Ther. 2002 Jun;9(11):679-82. doi: 10.1038/sj.gt.3301749. Gene Ther. 2002. PMID: 12032686

10

Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L).

Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B, Novelli G. Botta A, et al. Among authors: dallapiccola b. Gene. 2001 Sep 5;275(1):39-46. doi: 10.1016/s0378-1119(01)00649-7. Gene. 2001. PMID: 11574150

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