SARS‐CoV‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey
Schwartz, Ida Vanessa Doederlein, Randon, Dévora Natalia, Monsores, Natan, Moura de Souza, Carolina Fischinger, Horovitz, Dafne Dain Gandelman, Wilke, Matheus Vernet Machado Bressan, Brunoni, Decio
Published in American Journal of Medical Genetics Part C: Seminars in Medical Genetics (01.09.2021)
Published in American Journal of Medical Genetics Part C: Seminars in Medical Genetics (01.09.2021)
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Developing a scoring system for gene curation prioritization in lysosomal diseases
Vernet Machado Bressan Wilke, Matheus, Goldstein, Jennifer, Groopman, Emily, Mohan, Shruthi, Waddell, Amber, Fernandez, Raquel, Chen, Hongjie, Bali, Deeksha, Baudet, Heather, Clarke, Lorne, Hung, Christina, Mao, Rong, Yuzyuk, Tatiana, Craigen, William J., Pinto e Vairo, Filippo
Published in Molecular genetics and metabolism (01.09.2024)
Published in Molecular genetics and metabolism (01.09.2024)
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Expanding the phenotype of DNAJC30‐associated Leigh syndrome
Zawadzka, Marta, Krygier, Magdalena, Pawłowicz, Małgorzata, Wilke, Matheus Vernet Machado Bressan, Rutkowska, Karolina, Gueguen, Naig, Desquiret‐Dumas, Valerie, Klee, Eric W., Schimmenti, Lisa A., Sławek, Jarosław, Procaccio, Vincent, Płoski, Rafał, Mazurkiewicz‐Bełdzińska, Maria
Published in Clinical genetics (01.11.2022)
Published in Clinical genetics (01.11.2022)
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A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF
Vernet Machado Bressan Wilke, Matheus, Iop, Gabrielle Dineck, Faqueti, Larissa, Lemos da Silva, Layzon Antonio, Kubaski, Francyne, Poswar, Fabiano O, Michelin-Tirelli, Kristiane, Randon, Dévora, Borelli, Wyllians Vendramini, Giugliani, Roberto, Schwartz, Ida Vanessa D
Published in International journal of molecular sciences (01.03.2024)
Published in International journal of molecular sciences (01.03.2024)
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Spontaneous Pubertal Onset in a Male Patient With Mixed Gonadal Dysgenesis With Mosaicism 45,X/ 46, X, mar (Y)/ 47,X,mar(Y),+mar(Y) - Pediatric Case Report
Wilke, Matheus Vernet Machado Bressan, Costa, Eduardo Corrêa, Leite, Julio Cesar Loguercio, Lucena, Iara Regina Siqueira, Hemesath, Tatiana Prade, Carvalho, Clarissa Gutierrez, Riegel, Mariluce, Guaragna-Filho, Guilherme
Published in Urology (Ridgewood, N.J.) (01.12.2021)
Published in Urology (Ridgewood, N.J.) (01.12.2021)
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Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF
Wilke, Matheus Vernet Machado Bressan, Poswar, Fabiano, Borelli, Wyllians Vendramini, Michelin Tirelli, Kristiane, Randon, Dévora Natalia, Lopes, Franciele Fátima, Pasetto, Fernanda Bender, Sebastião, Fernanda Medeiros, Iop, Gabrielle Dineck, Faqueti, Larissa, da Silva, Layzon Antonio, Kubaski, Francyne, Schuh, Artur Francisco Schumacher, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein
Published in Orphanet journal of rare diseases (02.10.2023)
Published in Orphanet journal of rare diseases (02.10.2023)
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A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study
Wilke, Matheus Vernet Machado Bressan, de Oliveira, Bibiana Mello, Starosta, Rodrigo Tzovenos, Shinawi, Marwan, Lu, Liang, He, Mai, Ma, Yamin, Stoll, Janis, de Souza, Carolina Fischinger Moura, de Siqueira, Ana Cecilia Menezes, Vieira, Sandra Maria Gonçalves, Cerski, Carlos Thadeu, Refosco, Lilia Farret, Schwartz, Ida Vanessa Doederlein
Published in Biomedicines (26.01.2023)
Published in Biomedicines (26.01.2023)
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CARDIOMYOPATHY-RELATED GENETIC VARIANTS AND THEIR PHENOTYPES: A GENOTYPE-FIRST APPROACH
Figueiral, Marta, Paldino, Alessia, Wilke, Matheus Vernet Machado Bressan, Farris, Joseph, verheijen, jan, Arroyo, Jennifer, Olson, Rory, Olson, Janet, Pereira, Naveen L.
Published in Journal of the American College of Cardiology (02.04.2024)
Published in Journal of the American College of Cardiology (02.04.2024)
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Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study
Figueiral, Marta, Paldino, Alessia, Wilke, Matheus Vernet Machado Bressan, Farris, Joseph D, Verheijen, Jan, Giudicessi, John R, Ackerman, Michael J, Olson, Janet E, Arroyo, Jennifer, Olson, Rory J, Klee, Eric W, Pereira, Naveen L
Published in Mayo Clinic proceedings (01.11.2024)
Published in Mayo Clinic proceedings (01.11.2024)
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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
Gong, Maolei, Li, Jiayi, Qin, Zailong, Machado Bressan Wilke, Matheus Vernet, Liu, Yijun, Li, Qian, Liu, Haoran, Liang, Chen, Morales-Rosado, Joel A., Cohen, Ana S.A., Hughes, Susan S., Sullivan, Bonnie R., Waddell, Valerie, van den Boogaard, Marie-José H., van Jaarsveld, Richard H., van Binsbergen, Ellen, van Gassen, Koen L., Wang, Tianyun, Hiatt, Susan M., Amaral, Michelle D., Kelley, Whitley V., Zhao, Jianbo, Feng, Weixing, Ren, Changhong, Yu, Yazhen, Boczek, Nicole J., Ferber, Matthew J., Lahner, Carrie, Elliott, Sherr, Ruan, Yiyan, Mignot, Cyril, Keren, Boris, Xie, Hua, Wang, Xiaoyan, Popp, Bernt, Zweier, Christiane, Piard, Juliette, Coubes, Christine, Mau-Them, Frederic Tran, Safraou, Hana, Innes, A. Micheil, Gauthier, Julie, Michaud, Jacques L., Koboldt, Daniel C., Sylvie, Odent, Willems, Marjolaine, Tan, Wen-Hann, Cogne, Benjamin, Rieubland, Claudine, Braun, Dominique, McLean, Scott Douglas, Platzer, Konrad, Zacher, Pia, Oppermann, Henry, Evenepoel, Lucie, Blanc, Pierre, El Khattabi, Laïla, Haque, Neshatul, Dsouza, Nikita R., Zimmermann, Michael T., Urrutia, Raul, Klee, Eric W., Shen, Yiping, Du, Hongzhen, Rappaport, Leonard, Liu, Chang-Mei, Chen, Xiaoli
Published in American journal of human genetics (07.11.2024)
Published in American journal of human genetics (07.11.2024)
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Mucopolysaccharidosis: Caregiver Quality of Life
Guarany, Nicole Ruas, Vanz, Ana Paula, Wilke, Matheus Vernet Machado Bressan, Bender, Daniele Dorneles, Borges, Mariana Dumer, Giugliani, Roberto, Schwartz, Ida Vanessa Doederlein
Published in Journal of inborn errors of metabolism and screening (01.12.2015)
Published in Journal of inborn errors of metabolism and screening (01.12.2015)
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Mucopolysaccharidosis
Nicole Ruas Guarany PhD, Ana Paula Vanz MD, Matheus Vernet Machado Bressan Wilke, Daniele Dorneles Bender, Mariana Dumer Borges, Roberto Giugliani PhD, Ida Vanessa Doederlein Schwartz PhD
Published in Journal of inborn errors of metabolism and screening (01.11.2015)
Published in Journal of inborn errors of metabolism and screening (01.11.2015)
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