Dallapiccola B - Search Results

1

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.

Cordeddu V, Yin JC, Gunnarsson C, Virtanen C, Drunat S, Lepri F, De Luca A, Rossi C, Ciolfi A, Pugh TJ, Bruselles A, Priest JR, Pennacchio LA, Lu Z, Danesh A, Quevedo R, Hamid A, Martinelli S, Pantaleoni F, Gnazzo M, Daniele P, Lissewski C, Bocchinfuso G, Stella L, Odent S, Philip N, Faivre L, Vlckova M, Seemanova E, Digilio C, Zenker M, Zampino G, Verloes A, Dallapiccola B, Roberts AE, Cavé H, Gelb BD, Neel BG, Tartaglia M. Cordeddu V, et al. Among authors: dallapiccola b. Hum Mutat. 2015 Nov;36(11):1080-7. doi: 10.1002/humu.22834. Epub 2015 Aug 3. Hum Mutat. 2015. PMID: 26173643 Free PMC article.

2

Familial aplasia cutis congenita and coarctation of the aorta.

Dallapiccola B, Giannotti A, Marino B, Digilio C, Obregon G. Dallapiccola B, et al. Am J Med Genet. 1992 Jul 1;43(4):762-3. doi: 10.1002/ajmg.1320430423. Am J Med Genet. 1992. PMID: 1621771

3

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

4

Noonan syndrome and aortic coarctation.

Digilio MC, Marino B, Picchio F, Prandstraller D, Toscano A, Giannotti A, Dallapiccola B. Digilio MC, et al. Among authors: dallapiccola b. Am J Med Genet. 1998 Nov 2;80(2):160-2. Am J Med Genet. 1998. PMID: 9805134

5

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

6

A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene.

Mangino M, Torrente I, De Luca A, Sanchez O, Dallapiccola B, Novelli G. Mangino M, et al. Among authors: dallapiccola b. J Hum Genet. 1999;44(1):76-7. doi: 10.1007/s100380050113. J Hum Genet. 1999. PMID: 9929985

7

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.

Sangiuolo F, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B. Sangiuolo F, et al. Among authors: dallapiccola b. Hum Mutat. 1998;11(4):331. doi: 10.1002/(SICI)1098-1004(1998)11:4<331::AID-HUMU12>3.0.CO;2-3. Hum Mutat. 1998. PMID: 10215406

8

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.

Mangino M, Sanchez O, Torrente I, De Luca A, Capon F, Novelli G, Dallapiccola B. Mangino M, et al. Among authors: dallapiccola b. Am J Hum Genet. 1999 Aug;65(2):441-7. doi: 10.1086/302505. Am J Hum Genet. 1999. PMID: 10417287 Free PMC article.

9

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.

De Luca A, Torrente I, Mangino M, Danesi R, Dallapiccola B, Novelli G. De Luca A, et al. Among authors: dallapiccola b. Mutat Res. 2001 Jan;432(3-4):79-82. doi: 10.1016/s1383-5726(00)00007-8. Mutat Res. 2001. PMID: 11465545

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

973 results

Search Page