Rezultati

Type 1 diabetes in a patient with Ellis-van Creveld syndrome od 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 od 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 od 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. od 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. od 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 od 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 od 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 od 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 od 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 od 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... od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od Jesse K. Placone, Kalina Hristova

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