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Items: 1 to 20 of 45

1.

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.

Verver EJ, Topsakal V, Kunst HP, Huygen PL, Heller PG, Pujol-Moix N, Savoia A, Benazzo M, Fierro T, Grolman W, Gresele P, Pecci A.

Ear Hear. 2016 Jan-Feb;37(1):112-20. doi: 10.1097/AUD.0000000000000198.

PMID:
26226608
2.

A case of cochlear implantation in a patient with Epstein syndrome.

Nabekura T, Nagano Y, Matsuda K, Tono T.

Auris Nasus Larynx. 2015 Apr;42(2):160-2. doi: 10.1016/j.anl.2014.09.004.

PMID:
25293679
3.

Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.

Saposnik B, Binard S, Fenneteau O, Nurden A, Nurden P, Hurtaud-Roux MF, Schlegel N; French MYH9 networka..

Mol Genet Genomic Med. 2014 Jul;2(4):297-312. doi: 10.1002/mgg3.68.

4.

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.

Noris P, Biino G, Pecci A, Civaschi E, Savoia A, Seri M, Melazzini F, Loffredo G, Russo G, Bozzi V, Notarangelo LD, Gresele P, Heller PG, Pujol-Moix N, Kunishima S, Cattaneo M, Bussel J, De Candia E, Cagioni C, Ramenghi U, Barozzi S, Fabris F, Balduini CL.

Blood. 2014 Aug 7;124(6):e4-e10. doi: 10.1182/blood-2014-03-564328.

5.

Cochlear implantation is safe and effective in patients with MYH9-related disease.

Pecci A, Verver EJ, Schlegel N, Canzi P, Boccio CM, Platokouki H, Krause E, Benazzo M, Topsakal V, Greinacher A.

Orphanet J Rare Dis. 2014 Jun 30;9:100. doi: 10.1186/1750-1172-9-100.

6.

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.

Verver E, Pecci A, De Rocco D, Ryhänen S, Barozzi S, Kunst H, Topsakal V, Savoia A.

Clin Genet. 2015 Jul;88(1):85-9. doi: 10.1111/cge.12438.

PMID:
24890873
7.

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.

8.

Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents.

Kunishima S, Kitamura K, Matsumoto T, Sekine T, Saito H.

Br J Haematol. 2014 Jun;165(6):885-7. doi: 10.1111/bjh.12797. No abstract available.

PMID:
24611568
9.

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A.

Hum Mutat. 2014 Feb;35(2):236-47. doi: 10.1002/humu.22476.

PMID:
24186861
10.

Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders.

Kitamura K, Yoshida K, Shiraishi Y, Chiba K, Tanaka H, Furukawa K, Miyano S, Ogawa S, Kunishima S.

J Thromb Haemost. 2013 Nov;11(11):2071-3. doi: 10.1111/jth.12406. No abstract available.

11.

First successful use of eltrombopag before surgery in a child with MYH9-related thrombocytopenia.

Favier R, Feriel J, Favier M, Denoyelle F, Martignetti JA.

Pediatrics. 2013 Sep;132(3):e793-5. doi: 10.1542/peds.2012-3807.

12.

Apparent genotype-phenotype mismatch in a patient with MYH9-related disease: when the exception proves the rule.

Gresele P, De Rocco D, Bury L, Fierro T, Mezzasoma AM, Pecci A, Savoia A.

Thromb Haemost. 2013 Sep;110(3):618-20. doi: 10.1160/TH13-02-0175. No abstract available.

PMID:
23925420
13.

The mechanism of the converter domain rotation in the recovery stroke of myosin motor protein.

Baumketner A.

Proteins. 2012 Dec;80(12):2701-10. doi: 10.1002/prot.24155.

14.

A new feature of the MYH9-related syndrome: chronic transaminase elevation.

Favier R, DiFeo A, Hezard N, Fabre M, Bedossa P, Martignetti JA.

Hepatology. 2013 Mar;57(3):1288-9. doi: 10.1002/hep.25913. No abstract available.

PMID:
22806255
15.

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..

PLoS One. 2012;7(4):e35986. doi: 10.1371/journal.pone.0035986.

16.

Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation.

Pecci A, Barozzi S, d'Amico S, Balduini CL.

Thromb Haemost. 2012 Jun;107(6):1188-9. doi: 10.1160/TH12-01-0005. No abstract available.

PMID:
22398565
17.

Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicity.

Sanborn KB, Mace EM, Rak GD, Difeo A, Martignetti JA, Pecci A, Bussel JB, Favier R, Orange JS.

Blood. 2011 Nov 24;118(22):5862-71. doi: 10.1182/blood-2011-03-344846.

18.

Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes).

Girolami A, Vettore S, Bonamigo E, Fabris F.

J Thromb Thrombolysis. 2011 Nov;32(4):474-7. doi: 10.1007/s11239-011-0623-4. Erratum in: J Thromb Thrombolysis. 2012 Aug;34(2):289. Antonio, Girolami [corrected to Girolami, Antonio]; Silvia, Vettore [corrected to Vettore, Silvia]; Emanuela, Bonamigo [corrected to Bonamigo, Emanuela]; Fabrizio, Fabris [corrected to Fabris, Fabrizio].

PMID:
21842307
19.

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.

Balduini CL, Pecci A, Savoia A.

Br J Haematol. 2011 Jul;154(2):161-74. doi: 10.1111/j.1365-2141.2011.08716.x. Review.

PMID:
21542825
20.

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations.

Pecci A, Gresele P, Klersy C, Savoia A, Noris P, Fierro T, Bozzi V, Mezzasoma AM, Melazzini F, Balduini CL.

Blood. 2010 Dec 23;116(26):5832-7. doi: 10.1182/blood-2010-08-304725.

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