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Items: 10

1.

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

Bausch B, Schiavi F, Ni Y, Welander J, Patocs A, Ngeow J, Wellner U, Malinoc A, Taschin E, Barbon G, Lanza V, Söderkvist P, Stenman A, Larsson C, Svahn F, Chen JL, Marquard J, Fraenkel M, Walter MA, Peczkowska M, Prejbisz A, Jarzab B, Hasse-Lazar K, Petersenn S, Moeller LC, Meyer A, Reisch N, Trupka A, Brase C, Galiano M, Preuss SF, Kwok P, Lendvai N, Berisha G, Makay Ö, Boedeker CC, Weryha G, Racz K, Januszewicz A, Walz MK, Gimm O, Opocher G, Eng C, Neumann HPH; European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group.

JAMA Oncol. 2017 Sep 1;3(9):1204-1212. doi: 10.1001/jamaoncol.2017.0223.

2.

Usefulness of the Total Thrombus-Formation Analysis System (T-TAS) in the diagnosis and characterization of von Willebrand disease.

Daidone V, Barbon G, Cattini MG, Pontara E, Romualdi C, Di Pasquale I, Hosokawa K, Casonato A.

Haemophilia. 2016 Nov;22(6):949-956. doi: 10.1111/hae.12971. Epub 2016 Jun 13.

PMID:
27293213
3.

ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions.

Mulatero P, Schiavi F, Williams TA, Monticone S, Barbon G, Opocher G, Fallo F.

J Hum Hypertens. 2016 Jun;30(6):374-8. doi: 10.1038/jhh.2015.98. Epub 2015 Oct 8.

PMID:
26446392
4.

Severe, recessive type 1 is a discrete form of von Willebrand disease: the lesson learned from the c.1534-3C>A von Willebrand factor mutation.

Casonato A, Cattini MG, Barbon G, Daidone V, Pontara E.

Thromb Res. 2015 Sep;136(3):682-6. doi: 10.1016/j.thromres.2015.07.014. Epub 2015 Jul 26.

PMID:
26251079
5.

The p.R1819_C1948delinsS mutation makes von Willebrand factor ADAMTS13-resistant and reduces its collagen-binding capacity.

Daidone V, Saga G, Barbon G, Pontara E, Cattini MG, Morpurgo M, Zanotti G, Casonato A.

Br J Haematol. 2015 Aug;170(4):564-73. doi: 10.1111/bjh.13472. Epub 2015 Apr 23.

PMID:
25904363
6.

Loss of cysteine 584 impairs the storage and release, but not the synthesis of von Willebrand factor.

Daidone V, Barbon G, Pontara E, Cattini GM, Gallinaro L, Zampese E, Pizzo P, Casonato A.

Thromb Haemost. 2014 Dec;112(6):1159-66. doi: 10.1160/TH14-04-0391. Epub 2014 Sep 18.

PMID:
25230768
7.

Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease.

Pontara E, Gresele P, Cattini MG, Daidone V, Barbon G, Girolami A, Zanon E, Casonato A.

Blood Coagul Fibrinolysis. 2014 Jun;25(4):401-4. doi: 10.1097/MBC.0000000000000067.

PMID:
24418945
8.

A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.

Casonato A, Daidone V, Barbon G, Pontara E, Di Pasquale I, Gallinaro L, Marullo L, Bertorelle G.

Haematologica. 2013 Jan;98(1):147-52. doi: 10.3324/haematol.2012.066019. Epub 2012 Aug 8.

9.

The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.

Fusco C, Ucchino V, Barbon G, Bonini E, Mostacciuolo ML, Frattini D, Pisani F, Giustina ED.

J Child Neurol. 2011 Jan;26(1):49-57. doi: 10.1177/0883073810373142. Review.

PMID:
21212451
10.

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.

Bertolin C, Boaretto F, Barbon G, Salviati L, Lapi E, Divizia MT, Garavelli L, Occhi G, Vazza G, Mostacciuolo ML.

J Neurol Sci. 2010 Jul 15;294(1-2):124-6. doi: 10.1016/j.jns.2010.03.030. Epub 2010 May 5.

PMID:
20447653

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