Search Results - "Fock, Rodrigo"

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case by Samogy-Costa, Claudia Ismania, Varella-Branco, Elisa, Monfardini, Frederico, Ferraz, Helen, Fock, Rodrigo Ambrósio, Barbosa, Ricardo Henrique Almeida, Pessoa, André Luiz Santos, Perez, Ana Beatriz Alvarez, Lourenço, Naila, Vibranovski, Maria, Krepischi, Ana, Rosenberg, Carla, Passos-Bueno, Maria Rita

“…Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum disorder…”
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Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder by Reis, Viviane Neri de Souza, Kitajima, João Paulo, Tahira, Ana Carolina, Feio-Dos-Santos, Ana Cecília, Fock, Rodrigo Ambrósio, Lisboa, Bianca Cristina Garcia, Simões, Sérgio Nery, Krepischi, Ana C V, Rosenberg, Carla, Lourenço, Naila Cristina, Passos-Bueno, Maria Rita, Brentani, Helena

“…It has been proposed that copy number variations (CNVs) are associated with increased risk of autism spectrum disorder (ASD) and, in conjunction with other…”
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Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature by Bellucco, Fernanda T, Fock, Rodrigo A, de Oliveira-Júnior, Hélio R, Perez, Ana B, Melaragno, Maria I

“…Complex small marker chromosomes (sSMCs) consist of chromosomal material derived from more than 1 chromosome. Complex sSMCs derived from chromosomes 4 and 21…”
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Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil by Mendes, Camila, Loureiro, Thereza, Villela, Darine, Bittencourt, Marcelo Imbroinise, Sobreira, Joselito, Bermeo, Diana, Gomes, Mireille, Alencar, Dayse, de Castro, Luciana Santos Serrao, Fock, Rodrigo Ambrosio, Tinoco, Maria Luisa, Galvão, Henrique, Scapulatempo-Neto, Cristovam, Schiavetti, Katia, Senerchia, Andreza A., Gurgel, Maria Helane Costa

“…Hypertriglyceridemia (HTG) is a common dyslipidemia associated with an increased risk of cardiovascular disease and pancreatitis. It is well stablished that…”
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Posicionamento Brasileiro sobre Síndrome da Quilomicronemia Familiar – 2023 by Izar, Maria Cristina de Oliveira, Santos, Raul Dias dos, Assad, Marcelo Heitor Vieira, Chagas, Antonio Carlos Palandri, Toledo, Alceu de Oliveira, Nogueira, Ana Cláudia Cavalcante, Souto, Ana Cristina Carneiro Fernandes, Lottenberg, Ana Maria Pitta, Chacra, Ana Paula Marte, Ferreira, Carlos Eduardo dos Santos, Lourenço, Charles Marques, Valerio, Cynthia Melissa, Cintra, Dennys Esper, Fonseca, Francisco Antonio Helfenstein, Campana, Gustavo Aguiar, Bianco, Henrique Tria, Lima, Josivan Gomes de, Castelo, Maria Helane Costa Gurgel, Scartezini, Marileia, Moretti, Miguel Antonio, Barreto, Natasha Slhessarenko Fraife, Maia, Rayana Elias, Montenegro, Renan Magalhães, Alves, Renato Jorge, Figueiredo, Roberta Marcondes Machado, Fock, Rodrigo Ambrosio, Martinez, Tânia Leme da Rocha

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Determining the frequency of morphological characteristics in a sample of Brazilian children by Perrone, Eduardo, Zanolla, Thais Arbocese, Fock, Rodrigo Ambrosio, Perez, Ana Beatriz Alvarez, Brunoni, Decio

“…To establish the frequency of 82 morphological features in a sample of Brazilian children (between 3 and 13 years old), to understand the influence of age,…”
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TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMENT VALIDITY FOR A MORPHOLOGICAL EXAMINATION PERFORMED IN CHILDREN WITH AUTISM SPECTRUM DISORDER by Zanolla, Thais Arbocese, Perrone, Eduardo, Fock, Rodrigo Ambrosio, Bordini, Daniela, Brentani, Helena Paula, Perez, Ana Beatriz Alvarez, Brunoni, Decio

“…ABSTRACT Objective: For every 100 random children diagnosed with autism, at least 20 have morphological abnormalities, often associated with syndromes. Brazil…”
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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy by van der Knoop, Marieke M, Maroofian, Reza, Fukata, Yuko, van Ierland, Yvette, Karimiani, Ehsan G, Lehesjoki, Anna Elina, Muona, Mikko, Paetau, Anders, Miyazaki, Yuri, Hirano, Yoko, Selim, Laila, de França, Marina, Fock, Rodrigo Ambrosio, Beetz, Christian, Ruivenkamp, Claudia A L, Eaton, Alison J, Morneau-Jacob, Francois D, Sagi-Dain, Lena, Shemer-Meiri, Lilach, Peleg, Amir, Haddad-Halloun, Jumana, Kamphuis, Daan J, Peeters-Scholte, Cacha M P C D, Kurul, Semra Hiz, Horvath, Rita, Lochmüller, Hanns, Murphy, David, Waldmüller, Stephan, Spranger, Stephanie, Overberg, David, Muir, Alison M, Rad, Aboulfazl, Vona, Barbara, Abdulwahad, Firdous, Maddirevula, Sateesh, Povolotskaya, Inna S, Voinova, Victoria Y, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Alkuraya, Fowzan S, Mefford, Heather C, Alfadhel, Majid, Haack, Tobias B, Striano, Pasquale, Severino, Mariasavina, Fukata, Masaki, Hilhorst-Hofstee, Yvonne, Houlden, Henry

“…Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat…”
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A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 by Migliavacca, Michele Patricia, Fock, Rodrigo Ambrosio, Almeida, Nadia, Cavalcanti, Thereza, Villela, Darine, Perez, Ana Beatriz Alvarez, Valle, David, Wohler, Elizabeth, Sobreira, Nara Lygia de Macena, Raskin, Salmo

“…The classic triad, which defines IFAP syndrome, is ichthyosis follicularis, alopecia, and photophobia. It is a rare X-linked genetic disorder characterized by…”
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Brazilian Position Statement for Familial Chylomicronemia Syndrome - 2023 by Izar, Maria Cristina de Oliveira, Santos Filho, Raul Dias Dos, Assad, Marcelo Heitor Vieira, Chagas, Antonio Carlos Palandri, Toledo Júnior, Alceu de Oliveira, Nogueira, Ana Cláudia Cavalcante, Souto, Ana Cristina Carneiro Fernandes, Lottenberg, Ana Maria Pitta, Chacra, Ana Paula Marte, Ferreira, Carlos Eduardo Dos Santos, Lourenço, Charles Marques, Valerio, Cynthia Melissa, Cintra, Dennys Esper, Fonseca, Francisco Antonio Helfenstein, Campana, Gustavo Aguiar, Bianco, Henrique Tria, Lima, Josivan Gomes de, Castelo, Maria Helane Costa Gurgel, Scartezini, Marileia, Moretti, Miguel Antonio, Barreto, Natasha Slhessarenko Fraife, Maia, Rayana Elias, Montenegro Junior, Renan Magalhães, Alves, Renato Jorge, Figueiredo, Roberta Marcondes Machado, Fock, Rodrigo Ambrosio, Martinez, Tânia Leme da Rocha

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Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region by Araujo, Thaís Fenz, Ribeiro, Erlane Marques, Arruda, Anderson Pontes, Moreno, Carolina Araujo, de Medeiros, Paula Frassinetti Vasconcelos, Minillo, Renata Moldenhauer, Melo, Débora Gusmão, Kim, Chong Ae, Doriqui, Maria Juliana Rodovalho, Felix, Têmis Maria, Fock, Rodrigo Ambrosio, Cavalcanti, Denise Pontes

“…Pycnodysostosis is an autosomal recessive skeletal dysplasia, the prevalence of which is estimated to be low (1 per million). Nevertheless, in recent years we…”
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Determining the frequency of morphological characteristics in a sample of Brazilian children by Perrone, Eduardo, Zanolla, Thais Arbocese, Fock, Rodrigo Ambrosio, Perez, Ana Beatriz Alvarez, Brunoni, Decio

“…To establish the frequency of 82 morphological features in a sample of Brazilian children (between 3 and 13 years old), to understand the influence of age,…”
Get full text

Posicionamento Brasileiro sobre Síndrome da Quilomicronemia Familiar – 2023 by Izar, Maria Cristina de Oliveira, Santos Filho, Raul Dias dos, Assad, Marcelo Heitor Vieira, Chagas, Antonio Carlos Palandri, Toledo Júnior, Alceu de Oliveira, Nogueira, Ana Cláudia Cavalcante, Souto, Ana Cristina Carneiro Fernandes, Lottenberg, Ana Maria Pitta, Chacra, Ana Paula Marte, Ferreira, Carlos Eduardo dos Santos, Lourenço, Charles Marques, Valerio, Cynthia Melissa, Cintra, Dennys Esper, Fonseca, Francisco Antonio Helfenstein, Campana, Gustavo Aguiar, Bianco, Henrique Tria, Lima, Josivan Gomes de, Castelo, Maria Helane Costa Gurgel, Scartezini, Marileia, Moretti, Miguel Antonio, Barreto, Natasha Slhessarenko Fraife, Maia, Rayana Elias, Montenegro Junior, Renan Magalhães, Alves, Renato Jorge, Figueiredo, Roberta Marcondes Machado, Fock, Rodrigo Ambrosio, Martinez, Tânia Leme da Rocha

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Determining the frequency of morphological characteristics in a sample of Brazilian children by Eduardo Perrone, Thais Arbocese Zanolla, Rodrigo Ambrosio Fock, Ana Beatriz Alvarez Perez, Decio Brunoni

“…Objective: To establish the frequency of 82 morphological features in a sample of Brazilian children (between 3 and 13 years old), to understand the influence…”
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Determining the frequency of morphological characteristics in a sample of Brazilian children by Eduardo Perrone, Thais Arbocese Zanolla, Rodrigo Ambrosio Fock, Ana Beatriz Alvarez Perez, Decio Brunoni

“…Abstract Objective: To establish the frequency of 82 morphological features in a sample of Brazilian children (between 3 and 13 years old), to understand the…”
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