Balduini CL - Search Results

1

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA. Seri M, et al. Among authors: balduini cl. Nat Genet. 2000 Sep;26(1):103-5. doi: 10.1038/79063. Nat Genet. 2000. PMID: 10973259

2

The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.

Martignetti JA, Heath KE, Harris J, Bizzaro N, Savoia A, Balduini CL, Desnick RJ. Martignetti JA, et al. Among authors: balduini cl. Am J Hum Genet. 2000 Apr;66(4):1449-54. doi: 10.1086/302873. Epub 2000 Mar 17. Am J Hum Genet. 2000. PMID: 10739770 Free PMC article.

3

Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease.

Marini M, Bruschi M, Pecci A, Romagnoli R, Musante L, Candiano G, Ghiggeri GM, Balduini C, Seri M, Ravazzolo R. Marini M, et al. Int J Mol Med. 2006 May;17(5):729-36. Int J Mol Med. 2006. PMID: 16596254

4

Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings.

Noris P, Spedini P, Belletti S, Magrini U, Balduini CL. Noris P, et al. Among authors: balduini cl. Am J Med. 1998 Apr;104(4):355-60. doi: 10.1016/s0002-9343(98)00062-x. Am J Med. 1998. PMID: 9576409

5

Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.

Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S, Belletti S, Poggi, Iolascon A. Savoia A, et al. Among authors: balduini cl. Blood. 2001 Mar 1;97(5):1330-5. doi: 10.1182/blood.v97.5.1330. Blood. 2001. PMID: 11222377 Free article.

6

Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia.

Gangarossa S, Seri M, Pecci A, Di Bari F, Cusano R, Balduini C, Gasparini P, Savoia A. Gangarossa S, et al. Int J Mol Med. 2005 Sep;16(3):437-41. Int J Mol Med. 2005. PMID: 16077952

7

Altered cytoskeleton organization in platelets from patients with MYH9-related disease.

Canobbio I, Noris P, Pecci A, Balduini A, Balduini CL, Torti M. Canobbio I, et al. Among authors: balduini cl, balduini a. J Thromb Haemost. 2005 May;3(5):1026-35. doi: 10.1111/j.1538-7836.2005.01244.x. J Thromb Haemost. 2005. PMID: 15869600 Free article.

8

Inherited thrombocytopenias frequently diagnosed in adults.

Balduini CL, Savoia A, Seri M. Balduini CL, et al. J Thromb Haemost. 2013 Jun;11(6):1006-19. doi: 10.1111/jth.12196. J Thromb Haemost. 2013. PMID: 23510089 Free article. Review.

9

Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines.

Panza E, Marini M, Pecci A, Giacopelli F, Bozzi V, Seri M, Balduini C, Ravazzolo R. Panza E, et al. Pathogenetics. 2008 Dec 1;1(1):5. doi: 10.1186/1755-8417-1-5. Pathogenetics. 2008. PMID: 19046415 Free PMC article.

10

Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

Pecci A, Biino G, Fierro T, Bozzi V, Mezzasoma A, Noris P, Ramenghi U, Loffredo G, Fabris F, Momi S, Magrini U, Pirastu M, Savoia A, Balduini C, Gresele P; Italian Registry for MYH9-releated diseases. Pecci A, et al. PLoS One. 2012;7(4):e35986. doi: 10.1371/journal.pone.0035986. Epub 2012 Apr 25. PLoS One. 2012. PMID: 22558294 Free PMC article.

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

234 results

Search Page