Search Results - "Quaio, Caio R."

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies by Quaio, Caio R.D.C., Carvalho, Jozélio F., da Silva, Clovis A., Bueno, Cleonice, Brasil, Amanda S., Pereira, Alexandre C., Jorge, Alexander A.L., Malaquias, Alexsandra C., Kim, Chong A., Bertola, Débora R.

“…The association of RASopathies [Noonan syndrome (NS) and Noonan‐related syndromes] and autoimmune disorders has been reported sporadically. However, a…”
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Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases by Montenegro, Marilia M., Quaio, Caio R., Palmeira, Patricia, Gasparini, Yanca, Rangel‐Santos, Andreia, Damasceno, Julian, Novak, Estela M., Gimenez, Thamires M., Yamamoto, Guilherme L., Ronjo, Rachel S., Novo‐Filho, Gil M., Chehimi, Samar N., Zanardo, Evelin A., Dias, Alexandre T., Nascimento, Amom M., Costa, Thais V. M. M., Duarte, Alberto J. da S., Coutinho, Luiz L., Kim, Chong A., Kulikowski, Leslie D.

“…Background Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency,…”
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Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia? by Tonholo Silva, Thiago Y., Rosa, Augusto B.R., Quaio, Caio R., Verbeek, Dineke, Pedroso, José Luiz, Barsottini, Orlando

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Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation by Bertola, Débora R, Rodrigues, Melina G., Quaio, Caio R.D.C., Kim, Chong A., Passos‐Bueno, Maria Rita

“…Frontonasal dysplasias (FND) comprise a spectrum of disorders caused by abnormal median facial development. Its etiology is still poorly understood but…”
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Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection by Almeida, Tatiana F, Soares, Diogo C, Quaio, Caio R, Honjo, Rachel S, Bertola, Débora R, McGrath, John A, Kim, Chong A

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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features by Stankiewicz, Paweł, Khan, Tahir N., Szafranski, Przemyslaw, Slattery, Leah, Streff, Haley, Vetrini, Francesco, Bernstein, Jonathan A., Brown, Chester W., Rosenfeld, Jill A., Rednam, Surya, Scollon, Sarah, Bergstrom, Katie L., Parsons, Donald W., Plon, Sharon E., Vieira, Marta W., Quaio, Caio R.D.C., Baratela, Wagner A.R., Acosta Guio, Johanna C., Armstrong, Ruth, Mehta, Sarju G., Rump, Patrick, Pfundt, Rolph, Lewandowski, Raymond, Fernandes, Erica M., Shinde, Deepali N., Tang, Sha, Hoyer, Juliane, Zweier, Christiane, Reis, André, Bacino, Carlos A., Xiao, Rui, Breman, Amy M., Smith, Janice L., Katsanis, Nicholas, Bostwick, Bret, Popp, Bernt, Davis, Erica E., Yang, Yaping

“…Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling…”
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Manchas hipomelanocíticas associadas à epilepsia: alerta ao diagnóstico de esclerose tuberosa by Moreira, Mariana C., Quaio, Caio R. D. C., Gomy, Israel, Bertola, Débora R., Kim, Chong Ae

“…A esclerose tuberosa (ET) é uma doença multissistêmica de herança autossômica dominante caracterizada pelo desenvolvimento de hamartomas em diversos órgãos,…”
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