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Items: 50

1.

Risk factors for inhibitor development in severe hemophilia a.

Garagiola I, Palla R, Peyvandi F.

Thromb Res. 2018 May 25;168:20-27. doi: 10.1016/j.thromres.2018.05.027. [Epub ahead of print] Review.

PMID:
29879570
2.

Prediction of factor VIII inhibitor development in the SIPPET cohort by mutational analysis and factor VIII antigen measurement.

Spena S, Garagiola I, Cannavò A, Mortarino M, Mannucci PM, Rosendaal FR, Peyvandi F; SIPPET Study Group.

J Thromb Haemost. 2018 Apr;16(4):778-790. doi: 10.1111/jth.13961. Epub 2018 Mar 23.

PMID:
29399993
3.

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.

Donadon I, McVey JH, Garagiola I, Branchini A, Mortarino M, Peyvandi F, Bernardi F, Pinotti M.

Haematologica. 2018 Feb;103(2):344-350. doi: 10.3324/haematol.2017.178327. Epub 2017 Nov 23.

4.

Timing and severity of inhibitor development in recombinant versus plasma-derived factor VIII concentrates: a SIPPET analysis.

Peyvandi F, Cannavò A, Garagiola I, Palla R, Mannucci PM, Rosendaal FR; sippet study group.

J Thromb Haemost. 2018 Jan;16(1):39-43. doi: 10.1111/jth.13888. Epub 2017 Nov 16.

5.

Genetic risk stratification to reduce inhibitor development in the early treatment of hemophilia A: a SIPPET analysis.

Rosendaal FR, Palla R, Garagiola I, Mannucci PM, Peyvandi F; SIPPET Study Group.

Blood. 2017 Oct 12;130(15):1757-1759. doi: 10.1182/blood-2017-06-791756. Epub 2017 Aug 2.

PMID:
28768627
6.

Nonneutralizing antibodies against factor VIII and risk of inhibitor development in severe hemophilia A.

Cannavò A, Valsecchi C, Garagiola I, Palla R, Mannucci PM, Rosendaal FR, Peyvandi F; SIPPET study group.

Blood. 2017 Mar 9;129(10):1245-1250. doi: 10.1182/blood-2016-06-720086. Epub 2016 Dec 29. Erratum in: Blood. 2017 Jul 13;130(2):232.

7.

Advances in the treatment of bleeding disorders.

Peyvandi F, Garagiola I, Biguzzi E.

J Thromb Haemost. 2016 Nov;14(11):2095-2106. doi: 10.1111/jth.13491. Epub 2016 Oct 19. Review.

PMID:
27590165
8.

Degradation of two novel congenital TTP ADAMTS13 mutants by the cell proteasome prevents ADAMTS13 secretion.

Underwood M, Peyvandi F, Garagiola I, Machin S, Mackie I.

Thromb Res. 2016 Nov;147:16-23. doi: 10.1016/j.thromres.2016.09.014. Epub 2016 Sep 15.

PMID:
27665541
9.

A Randomized Trial of Factor VIII and Neutralizing Antibodies in Hemophilia A.

Peyvandi F, Mannucci PM, Garagiola I, El-Beshlawy A, Elalfy M, Ramanan V, Eshghi P, Hanagavadi S, Varadarajan R, Karimi M, Manglani MV, Ross C, Young G, Seth T, Apte S, Nayak DM, Santagostino E, Mancuso ME, Sandoval Gonzalez AC, Mahlangu JN, Bonanad Boix S, Cerqueira M, Ewing NP, Male C, Owaidah T, Soto Arellano V, Kobrinsky NL, Majumdar S, Perez Garrido R, Sachdeva A, Simpson M, Thomas M, Zanon E, Antmen B, Kavakli K, Manco-Johnson MJ, Martinez M, Marzouka E, Mazzucconi MG, Neme D, Palomo Bravo A, Paredes Aguilera R, Prezotti A, Schmitt K, Wicklund BM, Zulfikar B, Rosendaal FR.

N Engl J Med. 2016 May 26;374(21):2054-64. doi: 10.1056/NEJMoa1516437.

10.

A recurrent F8 mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effect.

Garagiola I, Seregni S, Mortarino M, Mancuso ME, Fasulo MR, Notarangelo LD, Peyvandi F.

Mol Genet Genomic Med. 2015 Dec 14;4(2):152-9. doi: 10.1002/mgg3.189. eCollection 2016 Mar.

11.

Whole-exome sequencing to identify genetic risk variants underlying inhibitor development in severe hemophilia A patients.

Gorski MM, Blighe K, Lotta LA, Pappalardo E, Garagiola I, Mancini I, Mancuso ME, Fasulo MR, Santagostino E, Peyvandi F.

Blood. 2016 Jun 9;127(23):2924-33. doi: 10.1182/blood-2015-12-685735. Epub 2016 Apr 8.

12.

The past and future of haemophilia: diagnosis, treatments, and its complications.

Peyvandi F, Garagiola I, Young G.

Lancet. 2016 Jul 9;388(10040):187-97. doi: 10.1016/S0140-6736(15)01123-X. Epub 2016 Feb 18. Review.

PMID:
26897598
13.

Long-term prophylaxis in severe factor VII deficiency.

Siboni SM, Biguzzi E, Mistretta C, Garagiola I, Peyvandi F.

Haemophilia. 2015 Nov;21(6):812-9. doi: 10.1111/hae.12702. Epub 2015 May 8.

PMID:
25952977
14.

Factor VIII products in haemophilia A: one size fits all?

Mannucci PM, Garagiola I.

Thromb Haemost. 2015 May;113(5):911-4. doi: 10.1160/TH15-04-0273. Epub 2015 Apr 9. No abstract available.

PMID:
25854290
15.

Treatment of hemophilia in the near future.

Peyvandi F, Garagiola I.

Semin Thromb Hemost. 2015 Nov;41(8):838-48. doi: 10.1055/s-0034-1543998. Epub 2015 Feb 19. Review.

PMID:
25703518
16.

A novel CD46 mutation in a patient with microangiopathy clinically resembling thrombotic thrombocytopenic purpura and normal ADAMTS13 activity.

Rossio R, Lotta LA, Pontiggia S, Borsa NG, Garagiola I, Ardissino G, Mikovic D, Cugno M, Peyvandi F.

Haematologica. 2015 Mar;100(3):e87-9. doi: 10.3324/haematol.2014.111062. Epub 2014 Nov 7. No abstract available.

17.

Pregnancy complications and obstetric care in women with inherited bleeding disorders.

Kadir RA, Davies J, Winikoff R, Pollard D, Peyvandi F, Garagiola I, Pabinger I, Federici AB.

Haemophilia. 2013 Nov;19 Suppl 4:1-10. doi: 10.1111/hae.12269. Review.

PMID:
24102860
18.

Future of coagulation factor replacement therapy.

Peyvandi F, Garagiola I, Seregni S.

J Thromb Haemost. 2013 Jun;11 Suppl 1:84-98. doi: 10.1111/jth.12270. Review.

19.

Prenatal diagnosis of haemophilia B: the Italian experience.

Belvini D, Salviato R, Acquila M, Bicocchi MP, Frusconi S, Garagiola I, Sanna V, Santacroce R, Rocino A, Tagariello G.

Haemophilia. 2013 Nov;19(6):898-903. doi: 10.1111/hae.12219. Epub 2013 Jun 28.

PMID:
23809776
20.

Reproductive care in human immunodeficiency virus serodiscordant couples with haemophilia.

Garagiola I, Mortarino M, Semprini AE, Peyvandi F.

Blood Transfus. 2013 Jul;11(3):469-70. doi: 10.2450/2012.0079-12. Epub 2012 Sep 13. No abstract available.

21.

Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura.

Lotta LA, Wu HM, Mackie IJ, Noris M, Veyradier A, Scully MA, Remuzzi G, Coppo P, Liesner R, Donadelli R, Loirat C, Gibbs RA, Horne A, Yang S, Garagiola I, Musallam KM, Peyvandi F.

Blood. 2012 Jul 12;120(2):440-8. doi: 10.1182/blood-2012-01-403113. Epub 2012 Apr 23.

22.

Source and purity of factor VIII products as risk factors for inhibitor development in patients with hemophilia A.

Mancuso ME, Mannucci PM, Rocino A, Garagiola I, Tagliaferri A, Santagostino E.

J Thromb Haemost. 2012 May;10(5):781-90. doi: 10.1111/j.1538-7836.2012.04691.x.

23.

Role of von Willebrand factor in the haemostasis.

Peyvandi F, Garagiola I, Baronciani L.

Blood Transfus. 2011 May;9 Suppl 2:s3-8. doi: 10.2450/2011.002S. Review. No abstract available.

24.

Management of pregnancy and delivery in women with inherited bleeding disorders.

Peyvandi F, Bidlingmaier C, Garagiola I.

Semin Fetal Neonatal Med. 2011 Dec;16(6):311-7. doi: 10.1016/j.siny.2011.07.006. Epub 2011 Aug 17. Review.

PMID:
21852211
25.

Gynecological and obstetrical manifestations of inherited bleeding disorders in women.

Peyvandi F, Garagiola I, Menegatti M.

J Thromb Haemost. 2011 Jul;9 Suppl 1:236-45. doi: 10.1111/j.1538-7836.2011.04372.x. Review.

26.

Prenatal diagnosis and preimplantation genetic diagnosis: novel technologies and state of the art of PGD in different regions of the world.

Peyvandi F, Garagiola I, Mortarino M.

Haemophilia. 2011 Jul;17 Suppl 1:14-7. doi: 10.1111/j.1365-2516.2011.02559.x.

PMID:
21692923
27.

Non-invasive tool for foetal sex determination in early gestational age.

Mortarino M, Garagiola I, Lotta LA, Siboni SM, Semprini AE, Peyvandi F.

Haemophilia. 2011 Nov;17(6):952-6. doi: 10.1111/j.1365-2516.2011.02537.x. Epub 2011 Apr 15.

PMID:
21492325
28.

Severe hemophilia with mild bleeding phenotype: molecular characterization and global coagulation profile.

Santagostino E, Mancuso ME, Tripodi A, Chantarangkul V, Clerici M, Garagiola I, Mannucci PM.

J Thromb Haemost. 2010 Apr;8(4):737-43. doi: 10.1111/j.1538-7836.2010.03767.x. Epub 2009 Jan 21.

29.

ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.

Lotta LA, Garagiola I, Palla R, Cairo A, Peyvandi F.

Hum Mutat. 2010 Jan;31(1):11-9. doi: 10.1002/humu.21143. Review.

PMID:
19847791
30.

The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura.

Palla R, Lavoretano S, Lombardi R, Garagiola I, Karimi M, Afrasiabi A, Ramzi M, De Cristofaro R, Peyvandi F.

Haematologica. 2009 Feb;94(2):289-93. doi: 10.3324/haematol.13524. Epub 2008 Dec 30.

31.

Nonsense-mediated mRNA decay in the ADAMTS13 gene caused by a 29-nucleotide deletion.

Garagiola I, Valsecchi C, Lavoretano S, Oren H, Bohm M, Peyvandi F.

Haematologica. 2008 Nov;93(11):1678-85. doi: 10.3324/haematol.13102. Epub 2008 Oct 2.

32.

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

Santacroce R, Acquila M, Belvini D, Castaldo G, Garagiola I, Giacomelli SH, Lombardi AM, Minuti B, Riccardi F, Salviato R, Tagliabue L, Grandone E, Margaglione M; AICE-Genetics Study Group.

J Hum Genet. 2008;53(3):275-84. doi: 10.1007/s10038-007-0238-y. Epub 2008 Jan 23.

PMID:
18217193
33.

A novel mutation of alpha2-plasmin inhibitor gene causes an inherited deficiency and a bleeding tendency.

Maino A, Garagiola I, Artoni A, Al-Humood S, Peyvandi F.

Haemophilia. 2008 Jan;14(1):166. Epub 2007 Oct 24. No abstract available.

PMID:
17961166
34.

Genetic diagnosis of haemophilia and other inherited bleeding disorders.

Peyvandi F, Jayandharan G, Chandy M, Srivastava A, Nakaya SM, Johnson MJ, Thompson AR, Goodeve A, Garagiola I, Lavoretano S, Menegatti M, Palla R, Spreafico M, Tagliabue L, Asselta R, Duga S, Mannucci PM.

Haemophilia. 2006 Jul;12 Suppl 3:82-9. Review.

PMID:
16684001
36.

Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII.

Mohanty D, Ghosh K, Shetty S, Spreafico M, Garagiola I, Peyvandi F.

Am J Hematol. 2005 Aug;79(4):262-6.

37.

The P303T mutation in the human factor VII (FVII) gene alters the conformational state of the enzyme and causes a severe functional deficiency.

Peyvandi F, De Cristofaro R, Garagiola I, Palla R, Akhavan S, Landolfi R, Mannucci PM.

Br J Haematol. 2004 Dec;127(5):576-84. Erratum in: Br J Haematol. 2005 Feb;128(4):580.

PMID:
15566361
38.

A rare inherited coagulation disorder: combined homozygous factor VII and factor X deficiency.

Menegatti M, Karimi M, Garagiola I, Mannucci P, Peyvandi F.

Am J Hematol. 2004 Sep;77(1):90-1.

40.

Losses of heterozygosity in endometrial adenocarcinomas: positive correlations with histopathological parameters.

Sirchia SM, Sironi E, Grati FR, Serafini P, Garagiola I, Rossella F, Dulcetti F, Pardi G, Garsia S, Simoni G.

Cancer Genet Cytogenet. 2000 Sep;121(2):156-62.

PMID:
11063800
41.

Detection of maternal DNA in cord blood at birth after elective caesarean section or vaginal delivery.

Semprini AE, De Andreis C, Fiore S, Garagiola I, Sirchia SM, Savasi V, Newell ML, Simoni G.

AIDS. 2000 Mar 31;14(5):623-5. No abstract available.

PMID:
10780730
42.

Losses of heterozygosity in oral and oropharyngeal epithelial carcinomas.

Grati FR, Sirchia SM, Garagiola I, Sironi E, Galioto S, Rossella F, Serafini P, Dulcetti F, Bozzetti A, Brusati R, Simoni G.

Cancer Genet Cytogenet. 2000 Apr 1;118(1):57-61.

PMID:
10731592
43.

Highly sensitive chemiluminescent method for the detection of cell contamination.

Sirchia SM, Garagiola I, De Andreis C, Pedranzini L, Poli F, Grati FR, Diomelli B, Simoni G.

J Biolumin Chemilumin. 1998 Sep-Oct;13(5):303-5.

PMID:
9839195
44.

Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism.

Sirchia SM, Garagiola I, Colucci G, Guerneri S, Lalatta F, Grimoldi MG, Simoni G.

Prenat Diagn. 1998 Mar;18(3):201-6.

PMID:
9556035
45.

Detection of maternal DNA in human cord blood stored for allotransplantation by a highly sensitive chemiluminescent method.

Poli F, Sirchia SM, Scalamogna M, Garagiola I, Crespiatico L, Pedranzini L, Lecchi L, Sirchia G.

J Hematother. 1997 Dec;6(6):581-5.

PMID:
9483193
46.

Absence of detectable maternal DNA and identification of proviral HIV in the cord blood of two infants who became HIV-infected.

De Andreis C, Simoni G, Castagna C, Sacchi L, Sirchia SM, Garagiola I, Persico T, Serafini P, Pardi G, Semprini AE.

AIDS. 1997 Jul;11(8):840-1. No abstract available. Corrected and republished in: AIDS. 1997 May;11(6):840-1.

PMID:
9223754
47.

Absence of detectable maternal DNA and identification of proviral HIV in the cord blood of two infants who became HIV-infected.

De Andreis C, Simoni G, Castagna C, Sacchi L, Sirchia SM, Garagiola I, Persico T, Serafini P, Pardi G, Semprini AE.

AIDS. 1997 May;11(6):840-1. No abstract available.

PMID:
9143631
48.

Highly sensitive chemiluminescent method for the detection of maternal cell contamination in human cord blood stored for allotransplantation: the experience of the Milano cord blood bank.

Poli F, Crespiatico L, Lecchi L, Sirchia G, Scalamogna M, Sirchia SM, Garagiola I, Pedranzini L.

Blood. 1997 Apr 15;89(8):3061-2. No abstract available.

49.

Cytogenetic abnormalities and microsatellite instability in endometrial adenocarcinoma.

Sirchia SM, Pariani S, Rossella F, Garagiola I, De Andreis C, Bulfamante G, Zannoni E, Radaelli U, Simoni G.

Cancer Genet Cytogenet. 1997 Apr;94(2):113-9.

PMID:
9109939
50.

Characterization of four microsatellites in an Italian population and their application to paternity testing.

Sirchia SM, Garagiola I, De Andreis C, Gazzoli I, Gramegna M, Colucci G.

Mol Cell Probes. 1996 Apr;10(2):155-8.

PMID:
8737400

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