The severity of Osteogenesis imperfecta and type I collagen pattern in human skin as determined by nonlinear microscopy: proof of principle of a diagnostic method
Adur, Javier, DSouza-Li, Lilia, Pedroni, Marcus Vinícius, Steiner, Carlos E, Pelegati, Vitor B, de Thomaz, Andre A, Carvalho, Hernandes F, Cesar, Carlos L
Published in PloS one (15.07.2013)
Published in PloS one (15.07.2013)
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Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of Ito
Cunha, Karina S, Simioni, Milena, Vieira, Tarsis P, Gil-da-Silva-Lopes, Vera L, Puzzi, Maria B, Steiner, Carlos E
Published in Genetics and molecular biology (01.03.2016)
Published in Genetics and molecular biology (01.03.2016)
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Journal Article
Cognitive and behavioral heterogeneity in genetic syndromes
Pegoraro, Luiz F.L., Steiner, Carlos E., Celeri, Eloisa H.R.V., Banzato, Claudio E.M., Dalgalarrondo, Paulo
Published in Jornal de pediatria (01.03.2014)
Published in Jornal de pediatria (01.03.2014)
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Journal Article
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
KRAKOW, Deborah, ROBERTSON, Stephen P, AFTIMOS, Salim, CHONG AE KIM, FIRTH, Helen, STEINER, Carlos E, CORMIER-DAIRE, Valerie, SUPERTI-FURGA, Andrea, BONAFE, Luisa, GRAHAM, John M, GRIX, Arthur, BACINO, Carlos A, KING, Lily M, ALLANSON, Judith, BIALER, Martin G, LACHMAN, Ralph S, RIMOIN, David L, COHN, Daniel H, MORGAN, Timothy, SEBALD, Eiman T, BERTOLOTTO, Cristina, WACHSMANN-HOGIU, Sebastian, ACUNA, Dora, SHAPIRO, Sandor S, TAKAFUTA, Toshiro
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
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Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
Di Lazzaro Filho, Ricardo, Yamamoto, Guilherme Lopes, Silva, Tiago J, Rocha, Leticia A, Linnenkamp, Bianca D W, Castro, Matheus Augusto Araújo, Bartholdi, Deborah, Schaller, André, Leeb, Tosso, Kelmann, Samantha, Utagawa, Claudia Y, Steiner, Carlos E, Steinmetz, Leandra, Honjo, Rachel Sayuri, Kim, Chong Ae, Wang, Lisa, Abourjaili-Bilodeau, Raphaël, Campeau, Philippe M, Warman, Matthew, Passos-Bueno, Maria Rita, Hoch, Nicolas C, Bertola, Debora Romeo
Published in Journal of medical genetics (01.11.2023)
Published in Journal of medical genetics (01.11.2023)
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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
Solomon, Benjamin D, Bear, Kelly A, Wyllie, Adrian, Keaton, Amelia A, Dubourg, Christele, David, Veronique, Mercier, Sandra, Odent, Sylvie, Hehr, Ute, Paulussen, Aimee, Clegg, Nancy J, Delgado, Mauricio R, Bale, Sherri J, Lacbawan, Felicitas, Ardinger, Holly H, Aylsworth, Arthur S, Bhengu, Ntombenhle Louisa, Braddock, Stephen, Brookhyser, Karen, Burton, Barbara, Gaspar, Harald, Grix, Art, Horovitz, Dafne, Kanetzke, Erin, Kayserili, Hulya, Lev, Dorit, Nikkel, Sarah M, Norton, Mary, Roberts, Richard, Saal, Howard, Schaefer, G B, Schneider, Adele, Smith, Erika K, Sowry, Ellen, Spence, M Anne, Shalev, Stavit A, Steiner, Carlos E, Thompson, Elizabeth M, Winder, Thomas L, Balog, Joan Z, Hadley, Donald W, Zhou, Nan, Pineda-Alvarez, Daniel E, Roessler, Erich, Muenke, Maximilian
Published in Journal of medical genetics (01.07.2012)
Published in Journal of medical genetics (01.07.2012)
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Journal Article
Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations
Garcia, Daniel F, Camelo, Jr, José S, Molfetta, Greice A, Turcato, Marlene, Souza, Carolina F M, Porta, Gilda, Steiner, Carlos E, Silva, Jr, Wilson A
Published in BMC medical genetics (12.05.2016)
Published in BMC medical genetics (12.05.2016)
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Journal Article
CBS mutations are good predictors for B6‐responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients
Poloni, Soraia, Sperb‐Ludwig, Fernanda, Borsatto, Taciane, Weber Hoss, Giovana, Doriqui, Maria Juliana R., Embiruçu, Emília K., Boa‐Sorte, Ney, Marques, Charles, Kim, Chong A., Fischinger Moura de Souza, Carolina, Rocha, Helio, Ribeiro, Marcia, Steiner, Carlos E., Moreno, Carolina A., Bernardi, Pricila, Valadares, Eugenia, Artigalas, Osvaldo, Carvalho, Gerson, Wanderley, Hector Y. C., Kugele, Johanna, Walter, Melanie, Gallego‐Villar, Lorena, Blom, Henk J., Schwartz, Ida Vanessa D.
Published in Molecular genetics & genomic medicine (01.03.2018)
Published in Molecular genetics & genomic medicine (01.03.2018)
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Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes
Simioni, Milena, Artiguenave, François, Meyer, Vincent, Sgardioli, Ilária C., Viguetti-Campos, Nilma L., Lopes Monlleó, Isabella, Maciel-Guerra, Andréa T., Steiner, Carlos E., Gil-da-Silva-Lopes, Vera L.
Published in Molecular syndromology (01.06.2017)
Published in Molecular syndromology (01.06.2017)
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Journal Article
Diagnosis and Management of Classical Homocystinuria in Brazil
Poloni Soraia, Hoss, Giovana W, Sperb-Ludwig Fernanda, Borsatto Taciane, Doriqui Maria Juliana R, KEA, Leão Emília, Boa-Sorte Ney, Lourenço, Charles M, Kim, Chong A, de Souza Carolina F M, Rocha Helio, Ribeiro, Marcia, Steiner, Carlos E, Moreno, Carolina A, Bernardi Pricila, Valadares Eugenia, Artigalas Osvaldo, Carvalho Gerson, Wanderley Hector Y C, D’Almeida Vânia, Santana-da-Silva, Luiz C, Blom, Henk J, Schwartz Ida V D
Published in Journal of inborn errors of metabolism and screening (01.08.2018)
Published in Journal of inborn errors of metabolism and screening (01.08.2018)
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Ethical issues related to the access to orphan drugs in Brazil: the case of mucopolysaccharidosis type I
Boy, Raquel, Schwartz, Ida V D, Krug, Bárbara C, Santana-da-Silva, Luiz C, Steiner, Carlos E, Acosta, Angelina X, Ribeiro, Erlane M, Galera, Marcial F, Leivas, Paulo G C, Braz, Marlene
Published in Journal of medical ethics (01.04.2011)
Published in Journal of medical ethics (01.04.2011)
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Journal Article
Cognitive and behavioral heterogeneity in genetic syndromes
Pegoraro, Luiz F.L., Steiner, Carlos E., Celeri, Eloisa H.R.V., Banzato, Claudio E.M., Dalgalarrondo, Paulo
Published in Jornal de pediatria (01.04.2014)
Published in Jornal de pediatria (01.04.2014)
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Journal Article
Additional EFNB1 mutations in craniofrontonasal syndrome
Wallis, Deeann, Lacbawan, Felicitas, Jain, Mahim, Der Kaloustian, Vazken M., Steiner, Carlos E., Moeschler, John B., Losken, H. Wolfgang, Kaitila, Ilkka I., Cantrell, Stephen, Proud, Virginia K., Carey, John C., Day, Donald W., Lev, Dorit, Teebi, Ahmad S., Robinson, Luther K., Hoyme, H. Eugene, Al-Torki, Nadia, Siegel-Bartelt, Jacqueline, Mulliken, John B., Robin, Nathaniel H., Saavedra, Dolores, Zackai, Elaine H., Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.08.2008)
Published in American journal of medical genetics. Part A (01.08.2008)
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Journal Article
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome
Abo-Dalo, Benjamin, Roes, Melanie, Canún, Sonia, Delatycki, Martin, Gillessen-Kaesbach, Gabriele, Hrytsiuk, Ihor, Jung, Christine, Kerr, Bronwyn, Mowat, David, Seemanova, Eva, Steiner, Carlos E, Stewart, Helen, Thierry, Patrick, van Buggenhout, Griet, White, Sue, Zenker, Martin, Kutsche, Kerstin
Published in Clinical dysmorphology (01.07.2008)
Published in Clinical dysmorphology (01.07.2008)
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Journal Article
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
Graham, John M, Krakow, Deborah, Bertolotto, Cristina, Morgan, Timothy, King, Lily M, Bonafe, Luisa, Kim, Chong Ae, Bacino, Carlos A, Steiner, Carlos E, Takafuta, Toshiro, Firth, Helen, Bialer, Martin G, Rimoin, David L, Cohn, Daniel H, Wachsmann-Hogiu, Sebastian, Acuna, Dora, Cormier-Daire, Valerie, Aftimos, Salim, Superti-Furga, Andrea, Lachman, Ralph S, Robertson, Stephen P, Allanson, Judith, Shapiro, Sandor S, Grix, Arthur, Sebald, Eiman T
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
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Journal Article
Diagnosis and Management of Classical Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients
Poloni, Soraia, Hoss, Giovana W., Sperb-Ludwig, Fernanda, Borsatto, Taciane, Doriqui, Maria Juliana R., Leão, Emília K.E.A, Boa-Sorte, Ney, Lourenço, Charles M., Kim, Chong A., de Souza, Carolina F. M., Rocha, Helio, Ribeiro, Marcia, Steiner, Carlos E., Moreno, Carolina A., Bernardi, Pricila, Valadares, Eugenia, Artigalas, Osvaldo, Carvalho, Gerson, Wanderley, Hector Y. C., D’Almeida, Vânia, Santana-da-Silva, Luiz C., Blom, Henk J., Schwartz, Ida V. D.
Published in Journal of inborn errors of metabolism and screening (07.08.2018)
Published in Journal of inborn errors of metabolism and screening (07.08.2018)
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