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Platelets Volume 20, 2009 - Issue 8
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Case Reports

MYH9 related disease: A novel missense Ala95Asp mutation of the MYH9 gene

Daniela de Rocco Medical Genetics, Department of Reproductive and Developmental Sciences, Institute for Maternal and Child Health–IRCCS Burlo Garofolo, University of Trieste, Trieste, Italy
,
Paula G. Heller Instituto de Investigaciones Medicas (IDIM), “A. Lanari”, University of Buenos Aires, Buenos Aires, Argentina
,
Giorgia Girotto Medical Genetics, Department of Reproductive and Developmental Sciences, Institute for Maternal and Child Health–IRCCS Burlo Garofolo, University of Trieste, Trieste, Italy
,
Annalisa Pastore National Institute for Medical Research, London, UK
,
Ana C. Glembotsky Instituto de Investigaciones Medicas (IDIM), “A. Lanari”, University of Buenos Aires, Buenos Aires, Argentina
,
Rosana F. Marta Instituto de Investigaciones Medicas (IDIM), “A. Lanari”, University of Buenos Aires, Buenos Aires, Argentina
,
Valeria Bozzi Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy
,
Alessandro Pecci Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy
,
Felisa C. Molinas Instituto de Investigaciones Medicas (IDIM), “A. Lanari”, University of Buenos Aires, Buenos Aires, Argentina
&
Anna Savoia Medical Genetics, Department of Reproductive and Developmental Sciences, Institute for Maternal and Child Health–IRCCS Burlo Garofolo, University of Trieste, Trieste, ItalyCorrespondence[email protected]
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Pages 598-602 | Received 26 Aug 2009, Accepted 18 Sep 2009, Published online: 27 Oct 2009

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Wenchao Zhang, Xiaoqiang Lian, Yifeng Sun & Jihong Hao. (2020) A sporadic MYH9-related disease in a Chinese boy with p.A95T mutation. Hematology 25:1, pages 34-36.
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Xuefei Ma & Robert S Adelstein. (2014) The role of vertebrate nonmuscle Myosin II in development and human disease. BioArchitecture 4:3, pages 88-102.
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Suraksha Agrawal, SS Agarwal & Sita Naik. (2010) Genetic contribution and associated pathophysiology in end-stage renal disease. The Application of Clinical Genetics 3, pages 65-84.
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Articles from other publishers (6)

Setsuri Yokoi, Shinji Kunishima, Yoshiyuki Takahashi, Masashi Morishita & Seiji Kojima. (2016) A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations. Annals of Hematology 95:5, pages 831-833.
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Alessandro Pecci, Catherine Klersy, Paolo Gresele, Kieran J.D. Lee, Daniela De Rocco, Valeria Bozzi, Giovanna Russo, Paula G. Heller, Giuseppe Loffredo, Matthias Ballmaier, Fabrizio Fabris, Eloise Beggiato, Walter H.A. Kahr, Nuria Pujol-Moix, Helen Platokouki, Christel Van Geet, Patrizia Noris, Preethi Yerram, Cedric Hermans, Bernhard Gerber, Marina Economou, Marco De Groot, Barbara Zieger, Erica De Candia, Vincenzo Fraticelli, Rogier Kersseboom, Giorgina B. Piccoli, Stefanie Zimmermann, Tiziana Fierro, Ana C. Glembotsky, Fabrizio Vianello, Carlo Zaninetti, Elena Nicchia, Christiane Güthner, Carlo Baronci, Marco Seri, Peter J. Knight, Carlo L. Balduini & Anna Savoia. (2014) MYH9 -Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations . Human Mutation 35:2, pages 236-247.
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Daniela De Rocco, Barbara Zieger, Helen Platokouki, Paula G. Heller, Annalisa Pastore, Roberta Bottega, Patrizia Noris, Serena Barozzi, Ana C. Glembotsky, Helen Pergantou, Carlo L. Balduini, Anna Savoia & Alessandro Pecci. (2013) MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations. European Journal of Medical Genetics 56:1, pages 7-12.
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A.C. GLEMBOTSKY, R.F. MARTA, A. PECCI, D. DE ROCCO, C. GNAN, Y.R. ESPASANDIN, N.P. GOETTE, F. NEGRO, P. NORIS, A. SAVOIA, C.L. BALDUINI, F.C. MOLINAS & P.G. HELLER. (2012) International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country. Journal of Thrombosis and Haemostasis 10:8, pages 1653-1661.
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Marina Economou, Spyros P. Batzios, Alessandro Pecci, Nikoletta Printza, Anna Savoia, Serena Barozzi, Stamatia Theodoridou, Aikaterini Teli, Georgios Psillas & Dimitrios I. Zafeiriou. (2012) MYH9-related Disorders. Journal of Pediatric Hematology/Oncology 34:6, pages 412-415.
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Kyoung Hee Han, HyunKyung Lee, Hee Gyung Kang, Kyung Chul Moon, Joo Hoon Lee, Young Seo Park, Il Soo Ha, Hyo Seop Ahn, Yong Choi & Hae Il Cheong. (2011) Renal manifestations of patients with MYH9-related disorders. Pediatric Nephrology 26:4, pages 549-555.
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