Academic literature on the topic 'Laron syndrome'

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Journal articles on the topic "Laron syndrome"

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Guleria, S., J. Sharma, and SL Kaushik. "Laron syndrome." Journal of Postgraduate Medicine 60, no. 3 (2014): 322. http://dx.doi.org/10.4103/0022-3859.138816.

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Laron, Zvi. "Laron Syndrome." Endocrinologist 3, no. 1 (1993): 21–28. http://dx.doi.org/10.1097/00019616-199301000-00005.

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Galli-Tsinopoulou, Assimina, Sanda Nousia-Arvanitakis, Ioannis Tsinopoulos, Christos Bechlivanides, Orit Shevah, and Zvi Laron. "Laron syndrome. First report from Greece." HORMONES 2, no. 2 (2003): 120–24. http://dx.doi.org/10.14310/horm.2002.1191.

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ESEN, İhsan, and Fatma DEMİREL. "Growth Hormone Insensitivity; Laron Syndrome." Turkiye Klinikleri Journal of Medical Sciences 31, no. 2 (2011): 505–6. http://dx.doi.org/10.5336/medsci.2011-24265.

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Kopchick, John J., and Zvi Laron. "Is the Laron Mouse an Accurate Model of Laron Syndrome?" Molecular Genetics and Metabolism 68, no. 2 (1999): 232–36. http://dx.doi.org/10.1006/mgme.1999.2890.

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Bhat, Javaid Ahmad, Moomin Hussain Bhat, Hilal Bhat, Mona Sood, and Shariq Rashid Masoodi. "Laron syndrome – A case Report." JMS SKIMS 20, no. 2 (2017): 104–6. http://dx.doi.org/10.33883/jms.v20i2.204.

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Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106
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ÖZGEN, İlker Tolga, Esra KUTLU, Yaşar CESUR, and Gözde YEŞİL. "A Case with Laron Syndrome." Bezmialem Science 7, no. 3 (2019): 251–54. http://dx.doi.org/10.14235/bas.galenos.2018.2385.

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Francke, U., and MA Berg. "Genetic heterogeneity in Laron syndrome." Acta Paediatrica 82, s392 (1993): 3–7. http://dx.doi.org/10.1111/j.1651-2227.1993.tb12916.x.

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De Silva, K. S. H., and Y. A. Arundathi Jayasena. "Laron syndrome: A case report." Sri Lanka Journal of Child Health 40, no. 4 (2011): 179. http://dx.doi.org/10.4038/sljch.v40i4.3848.

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Laron, Z. "An update on Laron syndrome." Archives of Disease in Childhood 68, no. 3 (1993): 345–46. http://dx.doi.org/10.1136/adc.68.3.345.

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Dissertations / Theses on the topic "Laron syndrome"

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Pariente, Daniel. "Syndrome d'insensibilité à l'hormone de croissance : nanisme de Laron." Paris 5, 1999. http://www.theses.fr/1999PA05P209.

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Hinrichs, Arne Verfasser], and Eckhard [Akademischer Betreuer] [Wolf. "Generation and characterization of a pig model for Laron syndrome / Arne Hinrichs ; Betreuer: Eckhard Wolf." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2018. http://d-nb.info/1167160495/34.

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Amselem, Serge. "Bases moleculaires d'un syndrome genetique de resistance a l'hormone de croissance (syndrome de laron) : contribution a l'etude des maladies hereditaires de la croissance chez l'homme." Paris 7, 1993. http://www.theses.fr/1993PA077115.

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En 1966, laron et al. Decrivaient un nanisme familial severe se transmettant sur le mode autosomique recessif, caracterise par une resistance au traitement par l'hormone de croissance (gh) et des taux seriques remarquablement eleves de gh contrastant avec des taux effondres d'insulin-like growth factor-i. Dans le but de tenter d'etablir les bases moleculaires de ce syndrome, nous avons analyse la structure du gene du recepteur de la gh (ghr) dans ces familles. Ce recepteur, d'expression essentiellement hepatique, est une proteine transmembranaire de 620 residus partageant d'importantes homolog
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PATOIS, VERONIQUE. "Syndrome d'insensibilite (resistance) a l'hormone de croissance (nanisme de laron) : etude d'une observation, resultat initial du traitement par insulin-like growth factor 1 humain recombinant." Lyon 1, 1994. http://www.theses.fr/1994LYO1M283.

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WOJCIK, JEROME. "Etude du recepteur de l'hormone de croissance : nouvelles mutations identifiees dans le syndrome de laron et mecanisme d'interaction du recepteur avec jak2. modelisation des boucles des proteines." Paris 7, 1999. http://www.theses.fr/1999PA077249.

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L'hormone de croissance (gh) exerce de multiples effets sur la croissance de l'organisme. La gh se lie a deux molecules de recepteur membranaire, le ghr, dont la dimerisation induit l'activation de la tyrosine kinase cytoplasmique jak2, initiant ainsi les voies de signalisation de la gh. Nous avons etudie deux aspects de cette signalisation, l'un par l'etude de nouveaux defauts de gene du ghr (syndrome de laron), l'autre par analyse de sequence de jak2. Le syndrome de laron est une maladie provoquee par une resistance totale a la gh due a un defaut du ghr. Trois nouvelles mutations du gene du
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Scalco, Renata da Cunha. "Estudo da mutação da STAT5B em Criciúma-Santa Catarina: frequência e caracterização fenotípica de indivíduos heterozigotos." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-24112015-101444/.

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Mutações inativadoras em homozigose no gene do transdutor de sinal e ativador de transcrição 5B (STAT5B) causam insensibilidade ao hormônio de crescimento associada a disfunção imunológica grave que se manifesta na forma de infecções exacerbadas e de repetição, pneumonia intersticial linfocítica e outros eventos autoimunes. A caracterização do fenótipo destas mutações em heterozigose não foi realizada previamente. Dois pacientes descritos com mutação em homozigose na STAT5B (c.424_427del / p.L142RfsX19) são irmãos brasileiros naturais de Criciúma - Santa Catarina, sem consanguinidade conhecida
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Books on the topic "Laron syndrome"

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Laron, Zvi, and J. Kopchick, eds. Laron Syndrome - From Man to Mouse. Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-11183-9.

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Laron syndrome - from man to mouse: Lessons from clinical and experimental experience. Springer, 2011.

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Laron, Zvi, and Petah Tikva. Lessons from Laron Syndrome (Pediatric and Adolescent Endocrinology). S Karger Pub, 1993.

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Laron, Zvi, and J. Kopchick. Laron Syndrome - From Man to Mouse: Lessons from Clinical and Experimental Experience. Springer, 2016.

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Zvi, Laron, Parks John S, and Ares-Serono Symposia, eds. Lessons from Laron syndrome (LS) 1966-1992: A model of GH and IGF-1 action and interaction : Ares-Serono Symposium, Lisbon, May 25-26, 1992. Karger, 1993.

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Book chapters on the topic "Laron syndrome"

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Leung, Alexander K. C., William Lane M. Robson, Carsten Büning, et al. "Laron Syndrome." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_1019.

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Laron, Zvi. "Laron Syndrome." In Hormone Resistance Syndromes. Humana Press, 1999. http://dx.doi.org/10.1007/978-1-59259-698-0_2.

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Kopchick, John J., and John D. Blischak. "The Laron Mouse." In Laron Syndrome - From Man to Mouse. Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-11183-9_49.

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Laron, Zvi. "Diagnosis of Laron Syndrome." In Laron Syndrome - From Man to Mouse. Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-11183-9_4.

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Kornreich, Liora, and Zvi Laron. "Imaging Findings in Laron Syndrome." In Laron Syndrome - From Man to Mouse. Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-11183-9_20.

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Bourla, Dan H., and Dov Weinberger. "Ocular Findings in Laron Syndrome." In Laron Syndrome - From Man to Mouse. Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-11183-9_21.

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Laron, Zvi. "Neurological Aspects in Laron Syndrome." In Laron Syndrome - From Man to Mouse. Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-11183-9_36.

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Laron, Zvi, and Rivka Kauli. "Orthopedic Problems in Laron Syndrome." In Laron Syndrome - From Man to Mouse. Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-11183-9_37.

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Laron, Zvi, and Rivka Kauli. "Perinatal Development in Laron Syndrome." In Laron Syndrome - From Man to Mouse. Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-11183-9_7.

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Eltorai, Ibrahim M. "Cervical Myelomalacia in Laron Syndrome." In Rare Diseases and Syndromes of the Spinal Cord. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-45147-3_34.

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