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Items: 27

1.

Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.

Bottega R, Perrone MD, Vecchiato K, Taddio A, Sabui S, Pecile V, Said HM, Faletra F.

J Hum Genet. 2019 Nov;64(11):1075-1081. doi: 10.1038/s10038-019-0666-5. Epub 2019 Sep 11.

PMID:
31506564
2.

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

Bottega R, Napolitano LMR, Carbone A, Cappelli E, Corsolini F, Onesti S, Savoia A, Gasparini P, Faletra F.

Mol Genet Genomic Med. 2019 May;7(5):e639. doi: 10.1002/mgg3.639. Epub 2019 Mar 28.

3.

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.

Bottega R, Cappellani S, Fabretto A, Spinelli AM, Severini GM, Aloisio M, Faleschini M, Athanasakis E, Bruno I, Faletra F, Pecile V.

Mol Genet Genomic Med. 2019 Mar;7(3):e546. doi: 10.1002/mgg3.546. Epub 2019 Jan 9.

4.

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.

Faleschini M, Melazzini F, Marconi C, Giangregorio T, Pippucci T, Cigalini E, Pecci A, Bottega R, Ramenghi U, Siitonen T, Seri M, Pastore A, Savoia A, Noris P.

Br J Haematol. 2018 Oct;183(2):276-288. doi: 10.1111/bjh.15531. Epub 2018 Oct 23.

PMID:
30351444
5.

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.

Bottega R, Nicchia E, Cappelli E, Ravera S, De Rocco D, Faleschini M, Corsolini F, Pierri F, Calvillo M, Russo G, Casazza G, Ramenghi U, Farruggia P, Dufour C, Savoia A.

Haematologica. 2018 Mar;103(3):417-426. doi: 10.3324/haematol.2017.176131. Epub 2017 Dec 21.

6.

Defects in mitochondrial energetic function compels Fanconi Anaemia cells to glycolytic metabolism.

Cappelli E, Cuccarolo P, Stroppiana G, Miano M, Bottega R, Cossu V, Degan P, Ravera S.

Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1214-1221. doi: 10.1016/j.bbadis.2017.03.008. Epub 2017 Mar 14.

7.

Mutations of RUNX1 in families with inherited thrombocytopenia.

De Rocco D, Melazzini F, Marconi C, Pecci A, Bottega R, Gnan C, Palombo F, Giordano P, Coccioli MS, Glembotsky AC, Heller PG, Seri M, Savoia A, Noris P.

Am J Hematol. 2017 Jun;92(6):E86-E88. doi: 10.1002/ajh.24703. Epub 2017 Mar 24. No abstract available.

8.

Gray platelet syndrome: Novel mutations of the NBEAL2 gene.

Bottega R, Nicchia E, Alfano C, Glembotsky AC, Pastore A, Bertaggia-Calderara D, Bisig B, Duchosal MA, Arbesú G, Alberio L, Heller PG, Savoia A.

Am J Hematol. 2017 Feb;92(2):E20-E22. doi: 10.1002/ajh.24610. No abstract available.

9.

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome.

Ravera S, Dufour C, Cesaro S, Bottega R, Faleschini M, Cuccarolo P, Corsolini F, Usai C, Columbaro M, Cipolli M, Savoia A, Degan P, Cappelli E.

Sci Rep. 2016 May 5;6:25441. doi: 10.1038/srep25441.

10.

Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.

Nicchia E, Benedicenti F, De Rocco D, Greco C, Bottega R, Inzana F, Faleschini M, Bonin S, Cappelli E, Mogni M, Stanzial F, Svahn J, Dufour C, Savoia A.

Birth Defects Res A Clin Mol Teratol. 2015 Dec;103(12):1003-10. doi: 10.1002/bdra.23388. Epub 2015 Jun 2.

PMID:
26033879
11.

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.

Bottega R, Marconi C, Faleschini M, Baj G, Cagioni C, Pecci A, Pippucci T, Ramenghi U, Pardini S, Ngu L, Baronci C, Kunishima S, Balduini CL, Seri M, Savoia A, Noris P.

Blood. 2015 Jan 29;125(5):869-72. doi: 10.1182/blood-2014-08-594531. Epub 2014 Oct 31.

12.

Inhibition of metalloproteinase activity in FANCA is linked to altered oxygen metabolism.

Ravera S, Capanni C, Tognotti D, Bottega R, Columbaro M, Dufour C, Cappelli E, Degan P.

J Cell Physiol. 2015 Mar;230(3):603-9. doi: 10.1002/jcp.24778.

PMID:
25161103
13.

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.

Noris P, Schlegel N, Klersy C, Heller PG, Civaschi E, Pujol-Moix N, Fabris F, Favier R, Gresele P, Latger-Cannard V, Cuker A, Nurden P, Greinacher A, Cattaneo M, De Candia E, Pecci A, Hurtaud-Roux MF, Glembotsky AC, Muñiz-Diaz E, Randi ML, Trillot N, Bury L, Lecompte T, Marconi C, Savoia A, Balduini CL, Bayart S, Bauters A, Benabdallah-Guedira S, Boehlen F, Borg JY, Bottega R, Bussel J, De Rocco D, de Maistre E, Faleschini M, Falcinelli E, Ferrari S, Ferster A, Fierro T, Fleury D, Fontana P, James C, Lanza F, Le Cam Duchez V, Loffredo G, Magini P, Martin-Coignard D, Menard F, Mercier S, Mezzasoma A, Minuz P, Nichele I, Notarangelo LD, Pippucci T, Podda GM, Pouymayou C, Rigouzzo A, Royer B, Sie P, Siguret V, Trichet C, Tucci A, Saposnik B, Veneri D; European Hematology Association – Scientific Working Group on Thrombocytopenias and Platelet Function Disorders.

Haematologica. 2014 Aug;99(8):1387-94. doi: 10.3324/haematol.2014.105924. Epub 2014 Apr 24.

14.

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

De Rocco D, Bottega R, Cappelli E, Cavani S, Criscuolo M, Nicchia E, Corsolini F, Greco C, Borriello A, Svahn J, Pillon M, Mecucci C, Casazza G, Verzegnassi F, Cugno C, Locasciulli A, Farruggia P, Longoni D, Ramenghi U, Barberi W, Tucci F, Perrotta S, Grammatico P, Hanenberg H, Della Ragione F, Dufour C, Savoia A; Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

Haematologica. 2014 Jun;99(6):1022-31. doi: 10.3324/haematol.2014.104224. Epub 2014 Feb 28. Erratum in: Haematologica. 2014 Sep;99(9):1532.

15.

Fanconi anemia patients are more susceptible to infection with tumor virus SV40.

Comar M, De Rocco D, Cappelli E, Zanotta N, Bottega R, Svahn J, Farruggia P, Misuraca A, Corsolini F, Dufour C, Savoia A.

PLoS One. 2013 Nov 18;8(11):e79683. doi: 10.1371/journal.pone.0079683. eCollection 2013.

16.

MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations.

De Rocco D, Zieger B, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, Balduini CL, Savoia A, Pecci A.

Eur J Med Genet. 2013 Jan;56(1):7-12. doi: 10.1016/j.ejmg.2012.10.009. Epub 2012 Oct 30.

17.

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.

Bottega R, Pecci A, De Candia E, Pujol-Moix N, Heller PG, Noris P, De Rocco D, Podda GM, Glembotsky AC, Cattaneo M, Balduini CL, Savoia A.

Haematologica. 2013 Jun;98(6):868-74. doi: 10.3324/haematol.2012.075861. Epub 2012 Oct 25.

18.

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).

Noris P, Perrotta S, Bottega R, Pecci A, Melazzini F, Civaschi E, Russo S, Magrin S, Loffredo G, Di Salvo V, Russo G, Casale M, De Rocco D, Grignani C, Cattaneo M, Baronci C, Dragani A, Albano V, Jankovic M, Scianguetta S, Savoia A, Balduini CL.

Haematologica. 2012 Jan;97(1):82-8. doi: 10.3324/haematol.2011.050682. Epub 2011 Sep 20.

19.

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.

Savoia A, Pastore A, De Rocco D, Civaschi E, Di Stazio M, Bottega R, Melazzini F, Bozzi V, Pecci A, Magrin S, Balduini CL, Noris P.

Haematologica. 2011 Mar;96(3):417-23. doi: 10.3324/haematol.2010.032631. Epub 2010 Dec 20.

20.

Cationic liposomes for direct gene transfer in therapy of cancer and other diseases.

Farhood H, Gao X, Son K, Yang YY, Lazo JS, Huang L, Barsoum J, Bottega R, Epand RM.

Ann N Y Acad Sci. 1994 May 31;716:23-34; discussion 34-5. Review.

PMID:
8024197
21.

Effect of cationic cholesterol derivatives on gene transfer and protein kinase C activity.

Farhood H, Bottega R, Epand RM, Huang L.

Biochim Biophys Acta. 1992 Nov 9;1111(2):239-46.

PMID:
1420259
22.

Inhibition of protein kinase C by cationic amphiphiles.

Bottega R, Epand RM.

Biochemistry. 1992 Sep 22;31(37):9025-30.

PMID:
1390689
23.

Inhibition of protein kinase C by sphingosine correlates with the presence of positive charge.

Bottega R, Epand RM, Ball EH.

Biochem Biophys Res Commun. 1989 Oct 16;164(1):102-7.

PMID:
2803286
24.
26.

The relationship between the bilayer to hexagonal phase transition temperature in membranes and protein kinase C activity.

Epand RM, Stafford AR, Cheetham JJ, Bottega R, Ball EH.

Biosci Rep. 1988 Feb;8(1):49-54.

PMID:
3395673
27.

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