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Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1

2011; Wiley; Volume: 155; Issue: 6 Linguagem: Inglês

10.1002/ajmg.a.33989

ISSN

1552-4833

Autores

Débora Romeo Bertola, Meire Aguena, Guilherme Lopes Yamamoto, Chong Ae Kim, Maria Rita Passos‐Bueno,

Tópico(s)

Genetic factors in colorectal cancer

Resumo

American Journal of Medical Genetics Part AVolume 155, Issue 6 p. 1483-1486 Research Letter Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1† Debora Bertola, Corresponding Author Debora Bertola [email protected] Unidade de Genética, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilInstituto da Criança, Unidade de Genética, HC/FMUSP, Av. Dr. Enéas Carvalho de Aguiar, 647, Cerqueira César, São Paulo CEP, SP 05403-900, Brazil.Search for more papers by this authorMeire Aguena, Meire Aguena Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorGuilherme Yamamoto, Guilherme Yamamoto Unidade de Genética, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorChong Ae Kim, Chong Ae Kim Unidade de Genética, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorMaria Rita Passos-Bueno, Maria Rita Passos-Bueno Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this author Debora Bertola, Corresponding Author Debora Bertola [email protected] Unidade de Genética, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilInstituto da Criança, Unidade de Genética, HC/FMUSP, Av. Dr. Enéas Carvalho de Aguiar, 647, Cerqueira César, São Paulo CEP, SP 05403-900, Brazil.Search for more papers by this authorMeire Aguena, Meire Aguena Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorGuilherme Yamamoto, Guilherme Yamamoto Unidade de Genética, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorChong Ae Kim, Chong Ae Kim Unidade de Genética, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this authorMaria Rita Passos-Bueno, Maria Rita Passos-Bueno Instituto de Biociências, Universidade de São Paulo, São Paulo, BrazilSearch for more papers by this author First published: 12 May 2011 https://doi.org/10.1002/ajmg.a.33989Citations: 4 † How to Cite this Article: Bertola D, Aguena M, Yamamoto G, Ae Kim C, Passos-Bueno MR. 2011. Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1. Am J Med Genet Part A 155:1483–1486. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Bertola D, Amaral C, Kim C, Albano L, Aguena M, Passos-Bueno MR. 2010. Craniosynostosis in pycnodysostosis: Broadening the spectrum of the cranial flat bone abnormalities. Am J Med Genet Part A 152A: 2599–2603. de Onis M, Onyango A, Borghi E, Siyam A, Nishida C, Siekmann J. 2007. 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High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K. Osteoporos Int 18: 659–669. Soliman AT, Ramadan MA, Sherif A, Aziz Bedair ES, Rizk MM. 2001. Pycnodysostosis: Clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy. Metabolism 50: 905–911. Takizawa Y, Pulkkinen L, Shimizu H, Lin L, Hagiwara S, Nishikawa T, Uitto J. 1998. Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. J Invest Dermatol 110: 828–831. Citing Literature Volume155, Issue6June 2011Pages 1483-1486 ReferencesRelatedInformation

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