Arama Sonuçları

Type 1 diabetes in a patient with Ellis-van Creveld syndrome Yazar: Graziadio, Carla, Bernardi, Pricila, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola, Paskulin, Giorgio Adriano

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Fetal Deficiency of Lin28 Programs Life-Long Aberrations in Growth and Glucose Metabolism Yazar: Gen Shinoda, Ng Shyh‐Chang, T. Yvanka de Soysa, Hao Zhu, Marc T. Seligson, Samar P. Shah, Nora Abo-Sido, Akiko Yabuuchi, John P. Hagan, Richard I. Gregory, John M. Asara, Lewis C. Cantley, Eric G. Moss, George Q. Daley

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Glycine to serine substitution in the triple helical domain of pro-α 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism Yazar: Henrik Vissing, Marina D’Alessio, B Lee, Francesco Ramirez, Maurice Godfrey, David W. Hollister

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Genetics of dominant gibberellin-insensitive dwarfism in maize. Yazar: Nicholas P. Harberd, Michael Freeling

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Dominant dwarfism in transgenic rats by targeting human growth hormone (GH) expression to hypothalamic GH-releasing factor neurons. Yazar: D Flavell, Timothy Wells, Sara Wells, Danielle Carmignac, G. B. Thomas, Iain C.A.F. Robinson

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Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications Yazar: Teresa Helsten, Maria Schwaederlé, Razelle Kurzrock

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Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism Yazar: Ranad Shaheen, Ghada M. H. Abdel‐Salam, Michael P. Guy, Rana Alomar, Mohamed S. Abdel‐Hamid, Hanan H. Afifi, Samira Ismail, Bayoumi A. Emam, Eric M. Phizicky, Fowzan S. Alkuraya

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A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone Yazar: Stéphanie Espiard, Frédérique Savagner, Frédéric Flamant, Virginie Vlaeminck‐Guillem, Romain Guyot, Mathilde Munier, Michèle d’Herbomez, William Bourguet, Graziella Pinto, Christian Rosé, Patrice Rodien, Jean-Louis Wémeau

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Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length Yazar: Emily K. Mis, Karel F. Liem, Yong Kong, Nancy B. Schwartz, Miriam S. Domowicz, Scott D. Weatherbee

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Healthy Aging: Is Smaller Better? – A Mini-Review Yazar: Andrzej Bartke

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Deletion, But Not Antagonism, of the Mouse Growth Hormone Receptor Results in Severely Decreased Body Weights, Insulin, and Insulin-Like Growth Factor I Levels and Increased Life S... Yazar: Karen T. Coschigano, Amy N. Holland, Markus E. Riders, Edward O. List, Allan Flyvbjerg, John J. Kopchick

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A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome Yazar: Mark O’Driscoll, Víctor L. Ruiz‐Pérez, C. Geoffrey Woods, Penny A. Jeggo, Judith A. Goodship

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Constitutive expression of a fruit phytoene synthase gene in transgenic tomatoes causes dwarfism by redirecting metabolites from the gibberellin pathway Yazar: Rupert G. Fray, Andrew D. Wallace, Paul D. Fraser, Daniel Valero, Peter Hedden, Peter M. Bramley, Donald Grierson

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Reduced Longevity in Untreated Patients with Isolated Growth Hormone Deficiency Yazar: Amélie Besson, Souzan Salemi, Sabina Gallati, Arthur Jenal, Rudolf Horn, Pia S. Mullis, Primus E. Mullis

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Evaluation of the Therapeutic Potential of a CNP Analog in a Fgfr3 Mouse Model Recapitulating Achondroplasia Yazar: Florence Lorget, Nabil Kaci, Jeff Peng, Catherine Benoist-Lasselin, Emilie Mugniery, Todd Oppeneer, Dan J. Wendt, Sean Bell, Sherry Bullens, Stuart Bunting, Laurie Tsuruda, Charles O’Neill, Federico Di Rocco, Arnold Münnich, Laurence Legeai‐Mallet

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Interaction of FGF, Ihh/Pthlh, and BMP Signaling Integrates Chondrocyte Proliferation and Hypertrophic Differentiation Yazar: Eleonora Minina, Conny Kreschel, Michael C. Naski, David M. Ornitz, Andrea Vortkamp

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A Syndrome of Hypopituitary Dwarfism, Hypoplasia of Optic Nerves, and Malformation of Prosencephalon: Report of 6 Patients Yazar: Selna L. Kaplan, Melvin M. Grumbach, William F. Hoyt

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Intestinal Secretory Defects and Dwarfism in Mice Lacking cGMP-Dependent Protein Kinase II Yazar: Alexander Pfeifer, Attila Aszódi, Ursula Seidler, Peter Ruth, Franz Hofmann, Reinhard Fässler

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Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism Yazar: Anas M. Alazami, Mohammad Al-Owain, Fatema Alzahrani, Taghreed Shuaib, Hussain Al-Shamrani, Yahya H. Al‐Falki, Saleh M. Al‐Qahtani, Tarfa Al‐Sheddi, Dilek Çolak, Fowzan S. Alkuraya

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Direct Assessment of the Effect of the Gly380Arg Achondroplasia Mutation on FGFR3 Dimerization Using Quantitative Imaging FRET Yazar: Jesse K. Placone, Kalina Hristova

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