Savoia A - Search Results

1

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J. Noetzli L, et al. Among authors: savoia a. Nat Genet. 2015 May;47(5):535-538. doi: 10.1038/ng.3253. Epub 2015 Mar 25. Nat Genet. 2015. PMID: 25807284 Free PMC article.

2

Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3.

Pronk JC, Gibson RA, Savoia A, Wijker M, Morgan NV, Melchionda S, Ford D, Temtamy S, Ortega JJ, Jansen S, et al. Pronk JC, et al. Among authors: savoia a. Nat Genet. 1995 Nov;11(3):338-40. doi: 10.1038/ng1195-338. Nat Genet. 1995. PMID: 7581462

3

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: savoia a. 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.

4

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: savoia a. Nat Genet. 2000 Sep;26(1):103-5. doi: 10.1038/79063. Nat Genet. 2000. PMID: 10973259

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. Blood. 2001 Mar 1;97(5):1330-5. doi: 10.1182/blood.v97.5.1330. Blood. 2001. PMID: 11222377 Free article.

6

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.

Pecci A, Noris P, Invernizzi R, Savoia A, Seri M, Ghiggeri GM, Sartore S, Gangarossa S, Bizzaro N, Balduini CL. Pecci A, et al. Among authors: savoia a. Br J Haematol. 2002 Apr;117(1):164-7. doi: 10.1046/j.1365-2141.2002.03385.x. Br J Haematol. 2002. PMID: 11918549 Free article.

7

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

Seri M, Savino M, Bordo D, Cusano R, Rocca B, Meloni I, Di Bari F, Koivisto PA, Bolognesi M, Ghiggeri GM, Landolfi R, Balduini CL, Zelante L, Ravazzolo R, Renieri A, Savoia A. Seri M, et al. Among authors: savoia a. Hum Genet. 2002 Feb;110(2):182-6. doi: 10.1007/s00439-001-0659-1. Epub 2001 Dec 14. Hum Genet. 2002. PMID: 11935325

8

Inherited thrombocytopenias: from genes to therapy.

Balduini CL, Iolascon A, Savoia A. Balduini CL, et al. Among authors: savoia a. Haematologica. 2002 Aug;87(8):860-80. Haematologica. 2002. PMID: 12161364 Review.

9

Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome.

Di Pumpo M, Noris P, Pecci A, Savoia A, Seri M, Ceresa IF, Balduini CL. Di Pumpo M, et al. Among authors: savoia a. Haematologica. 2002 Sep;87(9):943-7. Haematologica. 2002. PMID: 12217806

10

Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome).

Ghiggeri GM, Caridi G, Magrini U, Sessa A, Savoia A, Seri M, Pecci A, Romagnoli R, Gangarossa S, Noris P, Sartore S, Necchi V, Ravazzolo R, Balduini CL. Ghiggeri GM, et al. Among authors: savoia a. Am J Kidney Dis. 2003 Jan;41(1):95-104. doi: 10.1053/ajkd.2003.50028. Am J Kidney Dis. 2003. PMID: 12500226

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

222 results

Search Page

Filters