תוצאות חיפוש - Zsolt Urbán
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A Quantitative Evaluation of SAGE מאת Jes Stollberg, Johann Urschitz, Zsolt Urbán, Charles D. Boyd
יצא לאור 2000Artigo -
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Connection between Elastin Haploinsufficiency and Increased Cell Proliferation in Patients with Supravalvular Aortic Stenosis and Williams-Beuren Syndrome מאת Zsolt Urbán, Sheila Riazi, Thomas L. Seidl, J. Katahira, Leslie Smoot, David Chitayat, Charles D. Boyd, Aleksander Hinek
יצא לאור 2002Artigo -
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GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling מאת Andy Willaert, Sandeep Khatri, Bert Callewaert, Paul Coucke, Seth D. Crosby, Joseph G. H. Lee, Elaine C. Davis, Sruti Shiva, Michael Tsang, Anne De Paepe, Zsolt Urbán
יצא לאור 2011Artigo -
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Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis מאת Ashish Misra, Abdul Q. Sheikh, Abhishek Kumar, Jiesi Luo, Jiasheng Zhang, Robert B. Hinton, Leslie Smoot, Paige Kaplan, Zsolt Urbán, Yibing Qyang, George Tellides, Daniel M. Greif
יצא לאור 2016Artigo -
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New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five<i>ELN</i>mutations מאת Bert Callewaert, Marjolijn Renard, Vishwanathan Hucthagowder, Beate Albrecht, Ingrid Haußer, Edward Blair, Cristina Dias, Alice Albino, Hiroshi Wachi, Fumiaki Sato, Robert P. Mecham, Bart Loeys, Paul Coucke, Anne De Paepe, Zsolt Urbán
יצא לאור 2011Artigo -
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Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis מאת Robert C. Bauer, Ayanna O. Laney, Rosemarie Smith, Jennifer Gerfen, Jennifer J.D. Morrissette, Stacy Woyciechowski, Jennifer Garbarini, Kathleen M. Loomes, Ian D. Krantz, Zsolt Urbán, Bruce D. Gelb, Elizabeth Goldmuntz, Nancy B. Spinner
יצא לאור 2010Artigo -
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Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development מאת Zsolt Urbán, Vishwanathan Hucthagowder, Nura Schürmann, Vesna Todorović, Lior Zilberberg, Ji-Won Choi, Carla Sens, Chester Brown, Robin D. Clark, Kristen E. Holland, Michael Marble, Lynn Y. Sakai, Branka Dabovic, Daniel B. Rifkin, Elaine C. Davis
יצא לאור 2009Artigo -
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Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation מאת Éva Morava, Dirk J. Lefeber, Zsolt Urbán, Linda De Meırleır, Peter Meinecke, G. Gillessen Kaesbach, Jolanta Sykut‐Cegielska, Michael S. Adamowicz, Ira S. Salafsky, Judith D. Ranells, Emmanuelle Lemyre, Jeroen van Reeuwijk, Han G. Brunner, Ron A. Wevers
יצא לאור 2007Artigo -
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JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and stenosis in elastin deficiency מאת Jui M. Dave, Raja Chakraborty, Aglaia Ntokou, Junichi Saito, Fatima Zahra Saddouk, Zhonghui Feng, Ashish Misra, George Tellides, R. Kirk Riemer, Zsolt Urbán, Caroline Kinnear, James Ellis, Seema Mital, Robert P. Mecham, Kathleen A. Martin, Daniel M. Greif
יצא לאור 2022Artigo -
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A thrifty variant in CREBRF strongly influences body mass index in Samoans מאת Ryan L. Minster, Nicola L. Hawley, Chi-Ting Su, Guangyun Sun, Erin E. Kershaw, Hong Cheng, Olive D. Buhule, Jerome Lin, Muagututi‘a Sefuiva Reupena, Satupaitea Viali, John Tuitele, Take Naseri, Zsolt Urbán, Ranjan Deka, Daniel E. Weeks, Stephen T. McGarvey
יצא לאור 2016Artigo
כלי חיפוש:
נושאים קשורים
Biology
Genetics
Gene
Medicine
Elastin
Cutis laxa
Pathology
Internal medicine
Cell biology
Endocrinology
Molecular biology
Phenotype
Tropoelastin
Mutant
Biochemistry
Extracellular matrix
Fibulin
Missense mutation
Mutation
Stenosis
Allele
Aorta
Chemistry
Dermatology
Elastic fiber
Endoplasmic reticulum
Signal transduction
Supravalvular aortic stenosis
Anatomy
Bioinformatics