Aliada à nossa missão e nossos valores, a Mendelics contribui ativamente com o desenvolvimento da ciência no Brasil e no mundo. Saiba mais sobre os estudos e materiais que ajudamos a desenvolver na área da genética. São mais de 80 artigos publicados.

A Breast Cancer Polygenic Risk Score Validation in 15,490 Brazilians using Exome Sequencing

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Flávia Eichemberger Rius, Rodrigo Guindalini, Danilo Viana, Júlia Salomão, Laila Gallo, Renata Freitas, Cláudia Bertolacini, Lucas Taniguti, Danilo Imparato, Flávia Antunes, Gabriel Sousa, Renan Achjian, Eric Fukuyama, Cleandra Gregório, Iuri Ventura, Juliana Gomes, Nathália Taniguti, Simone Maistro, Jose E Krieger, Yonglan Zheng, Dezheng Huo, Olufunmilayo I. Olopade, Maria Aparecida Azevedo Koike Folgueira, David Schlesinger

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Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18

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Guilherme Carvalho de Souza, Maria Carolina Malta, Mirele Raíssa Silva Santos, Marshall Ítalo Barros Fontes, Juliana Lopes de Sousa Anjos, Diego Patrício Ribeiro, Fernando Kok, Thalita Figueiredo.

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Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy

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Paulo Ribeiro Nóbrega, Jorge Luiz de Brito de Souza, Rebeca Bessa Maurício, Anderson Rodrigues Brandão de Paiva, Daniel Aguiar Dias, Clara Gontijo Camelo, Edmar Zanotelli, David Schlesinger, Pedro Braga-Neto, Cristiane Araujo Martins Moreno.

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Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia

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Paulo R. Nóbrega, Anderson R B de Paiva, Katiane S. Souza, Jorge Luiz B. de Souza, Pedro Lucas G S B Lima, Delson José da Silva, Milena Sales Pitombeira, Viviennee K. Borges, Daniel A. Dias, Luciana M. Bispo, Carolina F. Santos, Fernando Freua, Paulo Diego S. Silva, Isabela S. Alves, Leonardo B. Portella, Paulina R. Cunha, Rubens Paulo A. Salomao, José Luiz Pedroso, Veridiana P. Miyajima, Fábio Miyajima, Elisa Cali, Charles Wade, Annapurna Sudarsanam, Mary O'Driscoll, Tom Hayton, Orlando G. P. Barsottini, Stephan Klebe, Fernando Kok, Leandro Tavares Lucato, Henry Houlden, Christel Depienne, David S. Lynch, Pedro Braga-Neto

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A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype

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Mauro Borghi, Leopoldo Muniz da Silva, Luciana Bispo, Carlos A. Longui.

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Generation of four induced pluripotent stem cells lines from PBMC of the DFNA58 family members: Two hearing-impaired duplication carriers (USPi006-A e USPi007-A) and two normal-hearing noncarriers (USPi004-A and USPi005-A)

Autores

Gerson S. Kobayashi, Gleiciele A. Vieira-Silva, Elisa Varella-Branco, Danielle P. Moreira, João Paulo F. W. Kitajima, Claudia R. M. L. Hemza, Regina C. Mingroni-Netto, Fernando H. Lojudice, Jeanne Oiticica, Ricardo F. Bento, Ana C. Batissoco, Karina Lezirovitz.

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Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutières Syndrome Phenotype

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Isabella Peixoto de Barcelos, Clarissa Bueno, Luís Filipe S Godoy, André Pessoa, Larissa A Costa, Fernanda C Monti, Katiane Souza-Cabral, Clarice Listik, Diego Castro, Bruno Della-Ripa, Fernando Freua, Laís C Pires, Lia T Krüger, José Luiz D Gherpelli, Flavia B Piazzon, Fabiola P Monteiro, Leandro T Lucato, Fernando Kok.

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Adult-onset Alexander disease with brainstem and cervical cord enhancing lesions

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Daniel Alves de Oliveira, Luziany Carvalho Araújo, Anderson Rodrigues Brandão de Paiva, Eduardo Sousa de Melo.

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Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities

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Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel Rocha Carvalho, Adriana Banzzatto Ortega, Matheus Augusto Araújo Castro, Claudio M. de Gusmao, Tomi L. Toler, Emanuele Bellacchio, Cristina Dallabona, Marwan Shinawi.

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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications

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Ashish R. Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Jonathan Volpatti, Ruth Newbury-Ecob, Sian Ellard, Hana Lango Allen, Emily P. Yu, Ramil Noche, Suzi Walker, Stephen W. Scherer, Sonal Mahida, Christopher M. Elitt, Gaël Nicolas, Alice Goldenberg, Pascale Saugier-Veber, Francois Lecoquierre, Ivana Dabaj, Hannah Meddaugh, Michael Marble, Kim M. Keppler-Noreuil, Lucy Drayson, Kristin W. Barañano, Anna Chassevent, Katie Agre, Pascaline Létard, Frederic Bilan, Gwenaël Le Guyader, Annie Laquerrière, Keri Ramsey, Lindsay Henderson, Lauren Brady, Mark Tarnopolsky, Matthew Bainbridge, Jennifer Friedman, Yline Capri, Larissa Athayde, Fernando Kok, Juliana Gurgel-Giannetti, Luiza L. P. Ramos, Susan Blaser, James J. Dowling, Rosanna Weksberg.

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New observations on minifascicular neuropathy with sex-dependent gonadal dysgenesis: a case series with nerve ultrasound assessment

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Lara Albuquerque Brito, Paulo Ribeiro Nóbrega, Daniel Aguiar Dias, André Rodrigues Façanha Barreto, Hermany Capistrano Freitas, Fernando Kok, Cleonisio Leite Rodrigues.

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Dysgenesis of the posterior segment of the corpus callosum: don’t miss SPG45!

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Daniel de Faria Guimarães, Ana Luiza Viegas de Almeida, Felipe Alba Scortegagna, Renato Hoffmann Nunes, Simone Consuelo Amorim, Felipe Torres Pacheco, Fernando Kok, Antonio José da Rocha.

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A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder

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Joseph Magrino, Veridiana Munford, Davi Jardim Martins, Thais K Homma, Brendan Page, Christl Gaubitz, Bruna L Freire, Antonio M Lerario, Juliana Brandstetter Vilar, Antonio Amorin, Emília K E Leão, Fernando Kok, Carlos Frederico, Alexander , Brian A Kelch.

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Dynamics of Early Establishment of SARS-CoV-2 VOC Omicron Lineages in Minas Gerais, Brazil

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Mariane Talon de Menezes, Filipe Romero Rebello Moreira, Charles Whittaker, Franciele Martins Santos, Daniel Costa Queiroz, Victor Geddes, Paula Luize Camargos Fonseca, Jaqueline Góes de Jesus, Franciane Mendes-Oliveira, Valquíria Reis-Souza, Bibiana Santos, Danielle Alves Gomes Zauli, Aline Brito de Lima, Cristiane de Brito Mendonça, Luige Biciati Alvim, Joice do Prado Silva, Frederico Scott Varella Malta, Alessandro Clayton de Souza Ferreira, Nuno R. Faria, Ester Cerdeira Sabino, Renato Santana Aguiar.

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Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings

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Anderson Rodrigues Brandão de Paiva, André Luiz Santos Pessoa, Paulo Ribeiro Nóbrega, Cristiane Araujo Martins Moreno, David S. Lynch, Lucas Mitsuo Taniguti, João Paulo Kitajima, Fernando Freua, Bruno Della-Ripa, Paulina Cunha, Isabella Peixoto de Barcelos, Lúcia Inês Macedo-Souza, Carlos Augusto Takeuchi, Antônio Milton Silva Garcia, Flávia Nardes, Ramiro Fontão, Sérgio Antônio Antoniuk, Monica Troncoso, Norma Spécola, Consuelo Durand, Bianca de Aguiar Coelho Silva Madeiro, Maria Juliana Rodovalho Doriqui, Diane Vergara, Henry Houlden, Fernando Kok.

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New Insights into the Identity of the DFNA58 Gene

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Larissa Reis do Nascimento, Gleiciele Alice Vieira-Silva, João Paulo Fumio Whitaker Kitajima, Ana Carla Batissoco, Karina Lezirovitz

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Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia-Occam’s razor or Hickam’s dictum: a case report

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Paulo Ribeiro Nóbrega, Francisco Bruno Santana da Costa, Pedro Gustavo Barros Rodrigues, Thais de Maria Frota Vasconcelos, Danyela Martins Bezerra Soares, Jéssica Silveira Araújo, Daniel Aguiar Dias, Manoel Alves Sobreira-Neto, Anderson Rodrigues Brandão de Paiva, Pedro Braga-Neto, Fernando Kok, Eveline Gadelha Pereira Fontenele.

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GIGYF1 disruption associates with autism and impaired IGF-1R signaling

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Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Qiumeng Zhang, Xiaolei Zhang, Qian Jiang, Yue Hua, Yaoling Han, Shengjie Luo, Kendra Hoekzema, Raphael A. Bernier, Rachel K. Earl, Evangeline C. Kurtz-Nelson, Michaela J. Idleburg, Suneeta Madan-Khetarpal, Rebecca Clark, Jessica Sebastian, Alberto Fernandez-Jaen, Sara Alvarez, Staci D. King, Luiza L.P. Ramos, Mara Lucia S.F. Santos, Donna M. Martin, Dan Brooks, Joseph D. Symonds, Ioana Cutcutache, Qian Pan, Zhengmao Hu, Ling Yuan, Evan E. Eichler, Kun Xia, Hui Guo.

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Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3

Autores

Paulo Ribeiro Nóbrega, Matheus Augusto Araújo Castro, Anderson Rodrigues Brandão de Paiva, Fernando Kok.

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Correspondence on “A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes” by Seaby et al

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Luiza Lorena Pires Ramos, João Paulo Kitajima, Larissa Sampaio de Athayde Costa, Fabiola Paoli Monteiro, Fernando Kok.

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Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?

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Paulo Ribeiro Nóbrega, João Lucas Araújo Morais, Alliane Milliane Ferreira, Alisson Dantas de Medeiros, Beatrice Araújo Duarte, Deborah Moreira Rangel, Fabrício Oliveira Lima, Anderson Rodrigues Brandão de Paiva, Luciana Paim-Marques, Fernando Kok, André Luiz Santos Pessoa, Pedro Braga-Neto, Fernanda Martins Maia Carvalho.

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Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

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Ana C. V. Krepischi, Darine Villela, Silvia Souza da Costa, Patricia C. Mazzonetto, Juliana Schauren, Michele P. Migliavacca, Fernanda Milanezi, Juliana G. Santos, Gustavo Guida, Rodrigo Guarischi-Sousa, Gustavo Campana, Fernando Kok, David Schlesinger, Joao Paulo Kitajima, Francine Campagnari, Debora R. Bertola, Angela M. Vianna-Morgante, Peter L. Pearson, Carla Rosenberg.

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Predicting SARS-CoV-2 Variant Spread in a Completely Seropositive Population Using Semi-Quantitative Antibody Measurements in Blood Donors

Autores

Lewis Buss, Carlos A. Prete, Charles Whittaker, Tassila Salomon, Marcio K. Oikawa, Rafael H. M. Pereira, Isabel C. G. Moura, Lucas Delerino, Rafael F. O. Franca, Fabio Miyajima, Alfredo Mendrone, Cesar Almeida-Neto, Nanci A. Salles, Suzete C. Ferreira, Karine A. Fladzinski, Luana M. de Souza, Luciane K. Schier, Patricia M. Inoue, Lilyane A. Xabregas, Myuki A. E. Crispim, Nelson Fraiji, Luciana M. B. Carlos, Veridiana Pessoa, Maisa A. Ribeiro, Rosenvaldo E. de Souza, Anna F. Cavalcante, Maria I. B. Valença, Maria V. da Silva, Esther Lopes, Luiz A. Filho, Sheila O. G. Mateos, Gabrielle T. Nunes, David Schlesinger, Sônia Mara Nunes da Silva, Alexander L. Silva-Junior, Marcia C. Castro, Vítor H. Nascimento, Christopher Dye, Michael P. Busch, Nuno R. Faria, Ester C. Sabino.

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Genomic epidemiology of the SARS-CoV-2 epidemic in Brazil

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Marta Giovanetti, Svetoslav Nanev Slavov, Vagner Fonseca, Eduan Wilkinson, Houriiyah Tegally, José Salvatore Leister Patané, Vincent Louis Viala, James Emmanuel San, Evandra Strazza Rodrigues, Elaine Vieira Santos, Flavia Aburjaile, Joilson Xavier, Hegger Fritsch, Talita Emile Ribeiro Adelino, Felicidade Pereira, Arabela Leal, Felipe Campos de Melo Iani, Glauco de Carvalho Pereira, Cynthia Vazquez, Gladys Mercedes Estigarribia Sanabria, Elaine Cristina de Oliveira, Luiz Demarchi, Julio Croda, Rafael Dos Santos Bezerra, Loyze Paola Oliveira de Lima, Antonio Jorge Martins, Claudia Renata Dos Santos Barros, Elaine Cristina Marqueze, Jardelina de Souza Todao Bernardino, Debora Botequio Moretti, Ricardo Augusto Brassaloti, Raquel de Lello Rocha Campos Cassano, Pilar Drummond Sampaio Corrêa Mariani, João Paulo Kitajima, Bibiana Santos, Rodrigo Proto-Siqueira, Vlademir Vicente Cantarelli, Stephane Tosta, Vanessa Brandão Nardy, Luciana Reboredo de Oliveira da Silva, Marcela Kelly Astete Gómez, Jaqueline Gomes Lima, Adriana Aparecida Ribeiro, Natália Rocha Guimarães, Luiz Takao Watanabe, Luana Barbosa Da Silva, Raquel da Silva Ferreira, Mara Patricia F da Penha, María José Ortega, Andrea Gómez de la Fuente, Shirley Villalba, Juan Torales, María Liz Gamarra, Carolina Aquino, Gloria Patricia Martínez Figueredo, Wellington Santos Fava, Ana Rita C. Motta-Castro, James Venturini, Sandra Maria do Vale Leone de Oliveira, Crhistinne Cavalheiro Maymone Gonçalves, Maria do Carmo Debur Rossa, Guilherme Nardi Becker, Mayra Marinho Presibella, Nelson Quallio Marques, Irina Nastassja Riediger, Sonia Raboni, Gabriela Mattoso Coelho, Allan Henrique Depieri Cataneo, Camila Zanluca, Claudia N. Duarte Dos Santos, Patricia Akemi Assato, Felipe Allan da Silva da Costa, Mirele Daiana Poleti, Jessika Cristina Chagas Lesbon, Elisangela Chicaroni Mattos, Cecilia Artico Banho, Lívia Sacchetto, Marília Mazzi Moraes, Rejane Maria Tommasini Grotto, Jayme A. Souza-Neto, Maurício Lacerda Nogueira, Heidge Fukumasu, Luiz Lehmann Coutinho, Rodrigo Tocantins Calado, Raul Machado Neto, Ana Maria Bispo de Filippis, Rivaldo Venancio da Cunha, Carla Freitas, Cassio Roberto Leonel Peterka, Cássia de Fátima Rangel Fernandes, Wildo Navegantes de Araújo, Rodrigo Fabiano do Carmo Said, Maria Almiron, Carlos Frederico Campelo de Albuquerque E Melo, José Lourenço, Tulio de Oliveira, Edward C. Holmes, Ricardo Haddad, Sandra Coccuzzo Sampaio, Maria Carolina Elias, Simone Kashima, Luiz Carlos Junior de Alcantara, Dimas Tadeu Covas

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A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

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Sanjay Budhdeo, Anderson Rodrigues Brandão de Paiva, Charles Wade, Laura Cardia Gomes Lopes, Bruno Della-Ripa, Indran Davagnanam, Leandro Lucato, Catherine J. Mummery, Fernando Kok, Henry Houlden, David J. Werring, David S. Lynch.

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Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

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Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade

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Allan-Herndon-Dudley syndrome in a female patient and related mechanisms

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Caroline Olivati, Bianca Pereira Favilla, Erika Lopes Freitas, Bibiana Santos, Maria Isabel Melaragno, Vera Ayres Meloni, Flavia Piazzon.

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Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease

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Anderson Rodrigues Brandão Paiva, Ronald Edington Fonseca Neto, Clara Lima Afonso, Fernando Freua, Paulo Ribeiro Nóbrega, Fernando Kok

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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing

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Rodrigo Santa Cruz Guindalini, Danilo Vilela Viana, João Paulo Fumio Whitaker Kitajima, Vinícius Marques Rocha, Rossana Verónica Mendoza López, Yonglan Zheng, Érika Freitas, Fabiola Paoli Mendes Monteiro, André Valim, David Schlesinger, Fernando Kok, Olufunmilayo I. Olopade, Maria Aparecida Azevedo Koike Folgueira.

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Extreme Clinical Variability Among Carriers of Pathogenic Variant in SSBP1

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Eduardo Sousa de Melo, Anderson Rodrigues Brandão de Paiva, Antônio Duarte de Amorim, Jose Ronaldo Lima de Carvalho, Marcos Eugenio Ramalho Bezerra, Vanessa van der Linden, David S. Lynch, Fernando Kok.

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Genomic monitoring of the SARS-CoV-2 B1.1.7 (WHO VOC Alpha) in the Sao Paulo state, Brazil.

Autores

Svetoslav Nanev Slavov, Rafael Dos Santos Bezerra, Evandra Strazza Rodrigues, Elaine Vieira Santos, Joseane Serrano Borges, Débora Glenda Lima de la Roque, José Salvatore Leister Patané, Alex Ranieri Jerônimo Lima, Gabriela Ribeiro, Vincent Louis Viala, Loyze Paola Oliveira de Lima, Antonio Jorge Martins, Claudia Renata Dos Santos Barros, Elaine Cristina Marqueze, Jardelina de Souza Todão Bernardino, Debora Botequio Moretti, Ricardo Augusto Brassaloti, Raquel de Lello Rocha Campos Cassano, Pilar Drummond Sampaio Corrêa Mariani, João Paulo Kitajima, Bibiana Santos, Patricia Akemi Assato, Felipe Allan da Silva da Costa, Mirele Daiana Poleti, Jessika Cristina Chagas Lesbon, Elisangela Chicaroni Mattos, Cecilia Artico Banho, Lívia Sacchetto, Marília Mazzi Moraes, Rejane Maria Tommasini Grotto, Jayme A. Souza-Neto, Marta Giovanetti, Luiz Carlos Junior de Alcantara, Maurício Lacerda Nogueira, Heidge Fukumasu, Luiz Lehmann Coutinho, Rodrigo Tocantins Calado, Raul Machado Neto, Dimas Tadeu Covas, Sandra Coccuzzo Sampaio, Maria Carolina Elias, Simone Kashima.

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Two different presentations of de novo variants of CSNK2B: two case reports

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Matheus V. M. B. Wilke, Bibiana M. Oliveira, Alessandra Pereira, Maria Juliana R. Doriqui, Fernando Kok, Carolina F. M. Souza.

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Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy

Autores

Francesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, Uluç Yis, Hoda Tomoum, Hanan Shamseldin, Julian Raiman, Christoph Kernstock, Flávio Moura Rezende Filho, Orlando Graziani Povoas Barsottini, Robert W. Taylor, Elsebet Østergaard, Abdullah Tamim, Karin Schäferhoff, Juliana Maria Ferraz Sallum, Maha S. Zaki, Fernando Kok, Kailash P. Bhatia, Bernd Wissinger, Kate Sergeant, Tobias B. Haack, Rita Horvath, Semra Hiz, Fowzan S. Alkuraya, Henry Houlden, José Luiz Pedroso, Reza Maroofian.

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Nucleocapsid (N) Gene Mutations of SARS-CoV-2 Can Affect Real-Time RT-PCR Diagnostic and Impact False-Negative Results

Autores

Jéssika Cristina Chagas Lesbon, Mirele Daiana Poleti, Elisângela Chicaroni de Mattos Oliveira, José Salvatore Leister Patané, Luan Gaspar Clemente, Vincent Louis Viala, Gabriela Ribeiro, Marta Giovanetti, Luiz Carlos Junior de Alcantara, Olivia Teixeira, Maria Cristina Nonato, Loyze Paola Oliveira de Lima, Antonio Jorge Martins, Claudia Renata dos Santos Barros, Elaine Cristina Marqueze, Jardelina de Souza Todão Bernardino, Debora Botequio Moretti, Ricardo Augusto Brassaloti, Raquel de Lello Rocha Campos Cassano, Pilar Drummond Sampaio Correa Mariani, Svetoslav Nanev Slavov, Rafael Bezerra dos Santos, Evandra Strazza Rodrigues, Elaine Vieira Santos, Josiane Serrano Borges, Debora Glenda Lima de La Roque, Joao Paulo Kitajima, Bibiana Santos, Patricia Akemi Assato, Felipe Allan da Silva da Costa, Cecilia Artico Banho, Livia Sacchetto, Marilia Mazzi Moraes, Melissa Palmieri, Fabiana Erica Vilanova da Silva, Rejane Maria Tommasini Grotto, Jayme A. Souza-Neto, Mauricio Lacerda Nogueira, Luiz Lehman Coutinho, Rodrigo Tocantins Calado, Raul Machado Neto, Dimas Tadeu Covas, Simone Kashima, Maria Carolina Elias, Sandra Coccuzzo Sampaio, Heidge Fukumasu.

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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

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Chaofan Zhang, Angad Jolly, Brian J Shayota, Juliana F Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N Jhangiani , Lorraine Potocki, Wendy K Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A Rosenfeld , Kati Mason, Lynda C Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Fernando Kok, Lucia R Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M Muzny, Richard A Gibbs, Jennifer E Posey, Pengfei Liu, James R Lupski, V Reid Sutton, Claudia M B Carvalho.

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Introduction of SARS-CoV-2 C.37 (WHO VOI lambda) in the Sao Paulo State, Southeast Brazil

Autores

Simone Kashima, Svetoslav N. Slavov, Marta Giovanetti, Evandra S. Rodrigues, José S. L. Patané, Vincent L. Viala, Elaine V. Santos, Mariane Evaristo, Loyze P. O. de Lima, Antonio J. Martins, Claudia R. Dos Santos Barros, Elaine C. Marqueze, Pedro M. M. Garibaldi, Natasha N. Ferreira, Glenda R. Moraes, Ricardo A. Brassaloti, Raquel L. R. C. Cassano, Pilar D. S. C. Mariani, João P. Kitajima, David Schlesinger, Rafael S. Bezerra, Patricia A. Assato, Felipe A. S. da Costa, Mirele Daiana Poleti, Jessika C. C. Lesbon, Elisangela C. Mattos, Cecilia A. Banho, Lívia Sacchetto, Rejane M. T. Grotto, Jayme A. Souza-Neto, Vagner Fonseca, Luiz C. J. de Alcantara, Maurício L. Nogueira, Heidge Fukumasu, Luiz L. Coutinho, Marcos Borges, Rodrigo T. Calado, Maria C. Elias, Sandra C. Sampaio, Dimas T. Covas

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Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke

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José A Paz , Emília Katiane Embiruçu, Clarissa Bueno, Rafaela Chaves, Fernanda Santos, Ane S S Pereira, Ida Vanessa, Anderson Rodrigues, Leandro Tavares Lucato, Fernando Kok.

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Genomic monitoring unveil the early detection of the SARS-CoV-2 B.1.351 (beta) variant (20H/501Y.V2) in Brazil

Autores

Svetoslav N Slavov, José S L Patané , Rafael Dos Santos Bezerra, Marta Giovanetti Vagner Fonseca Antonio J Martins , Vincent L Viala , Evandra S Rodrigues, Elaine V Santos, Claudia R S Barros , Elaine C Marqueze , Bibiana Santos Flavia Aburjaile Raul M Neto , Debora B Moretti , Ricardo Haddad , Rodrigo T Calado João P Kitajima Erika Freitas David Schlesinger Luiz C Junior de Alcantara Maria C Elias , Sandra C Sampaio , Simone Kashima, Dimas T Covas

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Early role for a Na +,K +-ATPase ( ATP1A3) in brain development

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Richard S Smith , Marta Florio Shyam K Akula Jennifer E Neil , Yidi Wang , R Sean Hill , Melissa Goldman Christopher D Mullally Nora Reed Luis Bello-Espinosa Laura Flores-Sarnat Fabiola Paoli Monteiro Casella B Erasmo0, Filippo Pinto E Vairo Eva Morava0, A James Barkovich Joseph Gonzalez-Heydrich Catherine A Brownstein , Steven A McCarroll Christopher A Walsh

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Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis

Autores

Fabiana Louise Motta, Rafael Filippelli-Silva , Joao Paulo Kitajima Denise A Batista Elizabeth S Wohler Nara L Sobreira Renan Paulo Martin Juliana Maria Ferraz Sallum

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MECP2-related conditions in males: A systematic literature review and 8 additional cases

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Luciana Midori Inuzuka, Matheus Guerra-Peixe , Lúcia Inês Macedo-Souza , Christiane Cobas Pedreira Juliana Gurgel-Gianetti Fabiola Paoli Monteiro Luiza Ramos Larissa Athayde Costa Ana Chrystina de Souza Crippa Charles Marques Lourenco Daniela Viana Pachito Lucia Sukys-Claudino Leonardo Salvador Gaspar Sergio Antonio Antoniuk Luis Paulo de Souza Dutra Sabrina Stephanie Lana Diniz Rafaelle Batistella Pires Eliana Garzon0, Fernando Kok

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A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant

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Tauana Bernardes Leoni, Carelis González-Salazar, Thiago Junqueira R Rezende, Ana Luisa C Hernández, Alexandre Hilário B Mattos, Antônio Rodrigues Coimbra Neto, Felipe Franco da Graça, João Pedro Nunes Gonçalves, Alberto R M Martinez, Lucas Taniguti , João Paulo Kitajima , Fernando Kok Fábio Rogério André Macedo Serafim da Silva Alexandre Leite Rodrigues de Oliveira Edmar Zanoteli Anamarli Nucci, Marcondes C França Jr

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Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Autores

Payam Mohassel, Sandra Donkervoort #, Museer A Lone # , Matthew Nalls #, Kenneth Gable # Sita D Gupta # A Reghan Foley, Ying Hu, Jonas Alex Morales Saute Ana Lucila Moreira Fernando Kok Alessandro Introna Giancarlo Logroscino Christopher Grunseich Alec R Nickolls, Naemeh Pourshafie Sarah B Neuhaus, Dimah Saade, Andrea Gangfuß0, Heike Kölbel0, Zoe Piccus, Claire E Le Pichon, Chiara Fiorillo, Cindy V LyAna Töpf Lauren Brady Sabine Specht Aliza Zidell Helio Pedro Eric Mittelmann Florian P Thomas Katherine R Chao Chamindra G Konersman , Megan T Cho , Tracy Brandt , Volker Straub Anne M Connolly , Ulrike Schara0, Andreas Roos0, Mark Tarnopolsky Ahmet Höke Robert H Brown Chia-Hsueh Lee Thorsten Hornemann , Teresa M Dunn Carsten G Bönnemann

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The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant

Autores

Franciele Cabral Pinheiro Rodrigo Ligabue-Braun Ana Cecília Menezes de Siqueira Camila Matuella , Carolina Fischinger Moura de Souza Fabíola Paoli Monteiro Fernando Kok Ida Vanessa Doederlein Schwartz Fernanda Sperb-Ludwig

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Retinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers

Autores

Flávio Moura Rezende Filho, Fion Bremner , José Luiz Pedroso, João Brainer Clares de Andrade, Bruna Ferraço Marianelli Charles Marques Lourenço Wilson Marques-Júnior Marcondes C França Jr Fernando Kok Juliana M F Sallum Michael H Parkinson Orlando G Barsottini, Paola Giunti

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Autores

Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL Jr, Tartaglia M.

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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Autores

den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H; DDD Study, Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM.

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DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation

Autores

Prasov L, Bohnsack BL, El Husny AS, Tsoi LC, Guan B, Kahlenberg JM, Almeida E, Wang H, Cowen EW, De Jesus AA, Jani P, Billi AC, Moroi SE, Wasikowski R, Almeida I, Almeida LN, Kok F, Garnai SJ, Mian SI, Chen MY, Warner BM, Ferreira CR, Goldbach-Mansky R, Hur S, Brooks BP, Richards JE, Hufnagel RB, Gudjonsson JE.

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Parental germline mosaicism inSCN3A-related severe developmental disorder

Autores

Inuzuka LM, Macedo-Souza LI, Guerra-Peixe M, Cobas Pedreira C, Della-Ripa B, Souza Delgado D, Monteiro F, Kitajima JP, Garzon E, Kok F.

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Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

Autores

Melo US, Bonner D, Kent Lloyd KC, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, de Souza Leite F, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM.

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Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy

Autores

Mendonça RH, Matsui C Jr, Polido GJ, Silva AMS, Kulikowski L, Torchio Dias A, Zanardo EA, Solla DJF, Gurgel-Giannetti J, de Moura ACML, Sampaio GPC, Oliveira ASB, de Souza PVS, Pinto WBVR, Gonçalves EA, Farias IB, Nardes F, Araújo APQC, Marques W Jr, Tomaselli PJ, Ribeiro MDO, Kitajima JP, Paoli Monteiro F, Saute JAM, Becker MM, Saraiva-Pereira ML, Brusius-Facchin AC, van der Linden V, Florêncio RN, Barbosa AVS, Machado-Costa MC, Pessoa ALS, Souza LS, Franca MC Jr, Kok F, Reed UC, Zanoteli E.

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Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country

Autores

da Silva Filho LVRF, Maróstica PJC, Athanazio RA, Reis FJC, Damaceno N, Paes AT, Hira AY, Schlesinger D, Kok F, Amaral MD; Brazilian Cystic Fibrosis Patient Registry Contributors Team.

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Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy

Autores

Inuzuka LM, Macedo-Souza LI, Della-Ripa B, Monteiro FP, Ramos L, Kitajima JP, Garzon E, Kok F.

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A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58

Autores

Lezirovitz K, Vieira-Silva GA, Batissoco AC, Levy D, Kitajima JP, Trouillet A, Ouyang E, Zebarjadi N, Sampaio-Silva J, Pedroso-Campos V, Nascimento LR, Sonoda CY, Borges VM, Vasconcelos LG, Beck RMO, Grasel SS, Jagger DJ, Grillet N, Bento RF, Mingroni-Netto RC, Oiticica J.

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Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations

Autores

Zanardo ÉA, Monteiro FP, Chehimi SN, Oliveira YG, Dias AT, Costa LA, Ramos LL, Novo-Filho GM, Montenegro MM, Nascimento AM, Kitajima JP, Kok F, Kulikowski LD.

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ATP6V1B2 – related epileptic encephalopathy

Autores

Inuzuka LM, Macedo-Souza LI, Della-Rippa B, Monteiro FP, Delgado DS, Godoy LF, Ramos L, de Athayde Costa LS, Garzon E, Kok F.

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Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Autores

Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T.

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Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature

Autores

Inuzuka LM, Macedo-Souza LI, Della-Ripa B, Cabral KSS, Monteiro F, Kitajima JP, de Souza Godoy LF, de Souza Delgado D, Kok F, Garzon E.

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Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations

Autores

Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F.

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Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Autores

Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR.

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Autores

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.

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Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment

Autores

Ramos LLP, Monteiro FP, Sampaio LPB, Costa LA, Ribeiro MDO, Freitas EL, Kitajima JP, Kok F.

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Autores

O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH.

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Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS

Autores

Rezende Filho FM, Parkinson MH, Pedroso JL, Poh R, Faber I, Lourenço CM, Júnior WM, França Junior MC, Kok F, Sallum JMF, Giunti P, Barsottini OGP.

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De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Autores

Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R.

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Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations

Autores

Melo US, Freua F, Lynch DS, Ripa BD, Tenorio RB, Saute JAM, de Souza Leite F, Kitajima J, Houlden H, Zatz M, Kok F.

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HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Autores

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C.

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Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia

Autores

Godeiro Junior CO, Vale TC, Afonso COM, Kok F, Pedroso JL, Barsottini OG.

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Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction

Autores

LaConte LEW, Chavan V, Elias AF, Hudson C, Schwanke C, Styren K, Shoof J, Kok F, Srivastava S, Mukherjee K.

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Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy

Autores

Calhoun JD, Vanoye CG, Kok F, George AL Jr, Kearney JA.

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Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder

Autores

Reis VN, Kitajima JP, Tahira AC, Feio-Dos-Santos AC, Fock RA, Lisboa BC, Simões SN, Krepischi AC, Rosenberg C, Lourenço NC, Passos-Bueno MR, Brentani H.

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One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia

Autores

Abrahao A, Abath Neto O, Kok F, Zanoteli E, Santos B, Pinto WB, Barsottini OG, Oliveira AS, Pedroso JL.

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SCA23 and prodynorphin: is it time for gene retraction?

Autores

Pedroso JL, Vale TC, Freua F, Barsottini OG, Kok F.

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A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability

Autores

Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S.

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Benign hereditary chorea related to NKX2-1 with ataxia and dystonia

Autores

de Gusmao CM, Kok F, Casella EB, Waugh JL.

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Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome

Autores

Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S.

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Expanding the Molecular and Clinical Phenotype of SSR4-CDG

Autores

Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH.

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Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease

Autores

Pedroso JL, Rocha CR, Macedo-Souza LI, De Mario V, Marques W Jr, Barsottini OG, Bulle Oliveira AS, Menck CF, Kok F.

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Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

Autores

Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG.

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Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome

Autores

Pedroso JL, Lucato LT, Kok F, Sallum J, Barsottini OG, Oliveira AS.

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Fatty acid 2-hydroxylase deficiency: clinical features and brain iron accumulation

Autores

Pedroso JL, Handfas BW, Abrahão A, Kok F, Barsottini OG, Oliveira AS.

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Whole-Genome Sequence of a Bordetella pertussis Brazilian Vaccine Strain

Autores

Akamatsu MA, Nishiyama MY Jr, Morone M, Oliveira UC, Bezerra MF, Sakauchi MA, Raw I, Junqueira de Azevedo IL, Kitajima JP, Carvalho E, Ho PL.

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Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family

Autores

Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S.

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Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

Autores

Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Kim CA, Kok F, Kitajima JP, van Meel E, Kornfeld S, Burin MG, Schwartz IVD.

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A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

Autores

Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M.

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