A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome...

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A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio Carta, Andrea Ciolfi, Gianfranco Bocchinfuso, Eugenio Carrani, Maria Lisa Dentici, Elisa Biamino, Elga Belligni, Livia Garavelli, Loredana Boccone, Daniela Melis, Generoso Andria, Bruce D. Gelb, Lorenzo Stella, Margherita Silengo, Bruno Dallapiccola, Marco Tartaglia The American Journal of Human Genetics Volume 90, Issue 1, Pages 161-169 (January 2012) DOI: 10.1016/j.ajhg.2011.12.011 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

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Transcript of A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome...

Page 1: A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio.

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome 

Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio Carta, Andrea Ciolfi, Gianfranco Bocchinfuso, Eugenio Carrani, Maria Lisa Dentici, Elisa Biamino, Elga Belligni, Livia Garavelli, Loredana Boccone, Daniela Melis, Generoso Andria, Bruce D. Gelb, Lorenzo Stella,

Margherita Silengo, Bruno Dallapiccola, Marco Tartaglia 

The American Journal of Human Genetics Volume 90, Issue 1, Pages 161-169 (January 2012)

DOI: 10.1016/j.ajhg.2011.12.011

Copyright © 2012 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions
Page 2: A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio.

Figure 1

The American Journal of Human Genetics 2012 90, 161-169DOI: (10.1016/j.ajhg.2011.12.011) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions
Page 3: A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio.

Figure 2

The American Journal of Human Genetics 2012 90, 161-169DOI: (10.1016/j.ajhg.2011.12.011) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

http://www.elsevier.com/termsandconditions

Analisi di affidabilità di un componente meccanico · 273 Analisi di affidabilità di un componente meccanico F. Ambrogi 1, C. Braccesi 2, F. Cianetti 2 1 Mechanical Dynamics Srl,

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FAM/USP9x, a Deubiquitinating Enzyme …snewfeld.lab.asu.edu/pdf/newfeld_fam_print.pdfFAM/USP9x, a Deubiquitinating Enzyme Essential for TGFb Signaling, Controls Smad4 Monoubiquitination

FAM/USP9x, a Deubiquitinating Enzyme …snewfeld.lab.asu.edu/pdf/newfeld_fam_print.pdfFAM/USP9x, a Deubiquitinating Enzyme Essential for TGFb Signaling, Controls Smad4 Monoubiquitination

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Smad4 is dispensable for normal pancreas …genesdev.cshlp.org/content/20/22/3130.full.pdfSmad4 is dispensable for normal pancreas development yet critical in progression and tumor

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UNDERSTANDING THE ROLE OF SMAD4 IN INTESTINAL …etd.library.vanderbilt.edu/available/etd-07292014-141638/unrestricted/Freeman.pdfUNDERSTANDING THE ROLE OF SMAD4 IN INTESTINAL HOMEOSTASIS

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Genetic dissection of colorectal cancer progression by orthotopic … · (TripleP53WT),APC(TripleAPCWT),KRAS(TripleKRASWT)or SMAD4 (TripleSMAD4WT), using similar selection strategies

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A network including TGF/Smad4, Gata2 and p57 regulates ...lup.lub.lu.se/search/ws/files/11246171/Elsevier_Billing_et_al.pdfMatilda Billing1, Emma Rörby1, Gillian May2, Alex J. Tipping2,

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Review The role of TGF-β/SMAD4 signaling in cancer › v14p0111.pdf · TGF-β/SMAD4 signaling pathway controls the signal transduction from cell membrane to nucleus, and is responsible

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Megakaryocytic Smad4 Regulates Platelet Function through ...molpharm.aspetjournals.org/content/molpharm/92/3/285.full.pdf · thiazole orange (100 ng/ml) and a CD41-PE antibody at

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