X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells von Ho, Bianca, Greenlaw, Keelin, Al Tuwaijri, Abeer, Moussette, Sanny, Martínez, Francisco, Giorgio, Elisa, Brusco, Alfredo, Ferrero, Giovanni Battista, Linhares, Natália D, Valadares, Eugênia R, Svartman, Marta, Kalscheuer, Vera M, Rodríguez Criado, Germán, Laprise, Catherine, Greenwood, Celia M T, Naumova, Anna K

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Neuropsychiatric and sleep study in autosomal dominant dopa-responsive dystonia von Alves Júnior, Ailton C., Daker, Maurício V., Machado, Alexei M.C., Luna, Alan S., Valladares Neto, Dirceu C., Valadares, Eugenia R.

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Clinical Characterization of Mucolipidoses II and III: A Multicenter Study von Alegra, Taciane, Sperb-Ludwig, Fernanda, Guarany, Nicole Ruas, Ribeiro, Erlane M., Lourenço, Charles M., Kim, Chong Ae, Valadares, Eugênia R., Galera, Marcial Francis, Acosta, Angelina X., Horovitz, Dafne Dain Gandelman, Schwartz, Ida Vanessa Doederlein

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What is new in genetics and osteogenesis imperfecta classification? von Valadares, Eugênia R., Carneiro, Túlio B., Santos, Paula M., Oliveira, Ana Cristina, Zabel, Bernhard

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Quantitative analysis of amino acids by HPLC in dried blood and urine in the neonatal period: Establishment of reference values von Nolasco, Daniela M., Fortes, Isabel C. P., Valadares, Eugênia R.

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Subtelomeric 6p25 deletion/duplication: Report of a patient with new clinical findings and genotype–phenotype correlations von Linhares, Natália D, Svartman, Marta, Rodrigues, Tatiane C, Rosenberg, Carla, Valadares, Eugênia R

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Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene von Adelino, Talita E R, Martins, Gustavo G, Gomes, Aretta A A, Torres, Adriana A, Silva, Daniel A S, Xavier, Vinícius D O, Guimarães, João Paulo O, Araújo, Sérgio S S, Fernandes, Rachel A F, Oliveira, Maria Christina L A, Godard, Ana Lúcia B, Valadares, Eugênia R

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A dose-optimization trial of laronidase (Aldurazyme ®) in patients with mucopolysaccharidosis I von Giugliani, Roberto, Rojas, Verónica Muñoz, Martins, Ana Maria, Valadares, Eugênia R., Clarke, Joe T.R., Góes, José E.C., Kakkis, Emil D., Worden, Mary Alice, Sidman, Marisa, Cox, Gerald F.

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Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization von Linhares, Natália D., Valadares, Eugênia R., da Costa, Silvia S., Arantes, Rodrigo R., de Oliveira, Luiz Roberto, Rosenberg, Carla, Vianna-Morgante, Angela M., Svartman, Marta

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Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene von Linhares, Natália D., Svartman, Marta, Salgado, Mauro Ivan, Rodrigues, Tatiane C., da Costa, Silvia S., Rosenberg, Carla, Valadares, Eugênia R.

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Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter von Missaglia, Sara, Valadares, Eugenia Ribeiro, Moro, Laura, Faguntes, Eleonora Druve Tavares, Quintão Roque, Raquel, Giardina, Bruno, Tavian, Daniela

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Amino acid reference intervals by high performance liquid chromatography in plasma sample of Brazilian children von Cruz, Ana F., Barbosa, Tatiana Maria C. C., Adelino, Talita Émile R., Lima, William P., Mendes, Magda O., Valadares, Eugênia R.

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What is new in genetics and osteogenesis imperfecta classification? von Eugênia R. Valadares, Túlio B. Carneiro, Paula M. Santos, Ana Cristina Oliveira, Bernhard Zabel

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What is new in genetics and osteogenesis imperfecta classification? von Eugênia R. Valadares, Túlio B. Carneiro, Paula M. Santos, Ana Cristina Oliveira, Bernhard Zabel

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What is new in genetics and osteogenesis imperfecta classification? von Valadares, Eugênia R., Carneiro, Túlio B., Santos, Paula M., Oliveira, Ana Cristina, Zabel, Bernhard

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Tratamento da doença de Gaucher: um consenso brasileiro von Martins, Ana M., Lobo, Clarisse L., Sobreira, Elisa A. P., Valadares, Eugenia R., Porta, Gilda, Semionato Filho, José, Pianovsky, Mara A. D., Kerstenetzky, Marcelo S., Montoril, Maria F. P., Aranda, Paulo C., Pires, Ricardo F., Mota, Ronald M. V., Bortolheiro, Teresa C., Paula, Maria T. M.

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Tratamento da doença de Gaucher: um consenso brasileiro von Martins, Ana M., Lobo, Clarisse L., Sobreira, Elisa A. P., Valadares, Eugenia R., Porta, Gilda, Semionato Filho, José, Pianovsky, Mara A. D., Kerstenetzky, Marcelo S., Montoril, Maria F. P., Aranda, Paulo C., Pires, Ricardo F., Mota, Ronald M. V., Bortolheiro, Teresa C., Paula, Maria T. M.

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International Nosocomial Infection Control Consortium (INICC) report, data summary for 2003-2008, issued June 2009 von Rosenthal, Victor D., MD, Maki, Dennis G., MD, Jamulitrat, Silom, MD, Medeiros, Eduardo A., MD, Todi, Subhash Kumar, MD, Gomez, David Yepes, MD, Leblebicioglu, Hakan, MD, Abu Khader, Ilham, MD, Miranda Novales, María Guadalupe, MD, Berba, Regina, MD, Ramírez Wong, Fernando Martín, MD, Barkat, Amina, MD, Pino, Osiel Requejo, MD, Dueñas, Lourdes, MD, Mitrev, Zan, MD, Bijie, Hu, MD, Gurskis, Vaidotas, MD, Kanj, S.S., MD, Mapp, Trudell, RN, Hidalgo, Rosalía Fernández, RN, Ben Jaballah, Nejla, MD, Raka, Lul, MD, Gikas, Achilleas, MD, Ahmed, Altaf, MD, Thu, Le Thi Anh, MD, Guzmán Siritt, María Eugenia, MD

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Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity von Boyden, Eric D., Campos-Xavier, A. Belinda, Kalamajski, Sebastian, Cameron, Trevor L., Suarez, Philippe, Tanackovich, Goranka, Andria, Generoso, Ballhausen, Diana, Briggs, Michael D., Hartley, Claire, Cohn, Daniel H., Davidson, H. Rosemarie, Hall, Christine, Ikegawa, Shiro, Jouk, Pierre-Simon, König, Rainer, Megarbané, André, Nishimura, Gen, Lachman, Ralph S., Mortier, Geert, Rimoin, David L., Rogers, R. Curtis, Rossi, Massimiliano, Sawada, Hirotake, Scott, Richard, Unger, Sheila, Valadares, Eugenia Ribeiro, Bateman, John F., Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa

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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta von Moosa, Shahida, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sérgio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, Cabral de Menezes, Hamilton, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Carniero, Tulio Canella Bezerra, Giunta, Cecilia, Rohrbach, Marianne, Janner, Marco, Semler, Oliver, Beleggia, Filippo, Li, Yun, Yigit, Gökhan, Reintjes, Nadine, Altmüller, Janine, Nürnberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd, Netzer, Christian

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