Search Results - "Moreira, Eloisa S"

Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy by Moreira, Danielle P, Griesi-Oliveira, Karina, Bossolani-Martins, Ana L, Lourenço, Naila C V, Takahashi, Vanessa N O, da Rocha, Kátia M, Moreira, Eloisa S, Vadasz, Estevão, Meira, Joanna Goes Castro, Bertola, Debora, O'Halloran, Eoghan, Magalhães, Tiago R, Fett-Conte, Agnes C, Passos-Bueno, Maria Rita

“…Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These…”
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Physician reported treatment patterns and outcomes in metastatic bladder cancer in the USA: the CancerMPact ® Survey 2020 by Bueno, Ana Paula A, Clark, Otavio, Turnure, Matthew, Moreira, Eloisa S, Chang, Jane, Hou, Ningqi, Li, Si, Kim, Ruth, Kearney, Mairead, Kirker, Melissa, Kanas, Gena

“…This study assessed physician-reported treatment patterns for metastatic bladder cancer. A total of 106 USA-based physicians were surveyed in 2020 using the…”
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Treatment patterns in metastatic bladder cancer in Japan: results of the CancerMPact ® survey 2020 by A Bueno, Ana Paula, Clark, Otavio, Turnure, Matthew, Moreira, Eloisa S, Yuasa, Akira, Sugiyama, Shigeru, Kirker, Melissa, Li, Si, Hou, Ningqi, Chang, Jane, Kearney, Mairead, Kanas, Gena

“…To assess physician-reported treatment of metastatic bladder cancer in Japan. 76 physicians completed the CancerMPact survey in July 2020, considering patients…”
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A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B by Bushby, Kate, Bashir, Rumaisa, Britton, Stephen, Strachan, Tom, Keers, Sharon, Vafiadaki, Elizabeth, Lako, Majlinda, Richard, Isabelle, Marchand, Sylvie, Bourg, Nathalie, Argov, Zohar, Sadeh, Menachem, Mahjneh, Ibrahim, Marconi, Giampiero, Passos-Bueno, Maria Rita, Moreira, Eloisa de S, Zatz, Mayana, Beckmann, Jacques S

“…The limb-girdle muscular dystrophies are a genetically heterogeneous group of inherited progressive muscle disorders that affect mainly the proximal…”
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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin by Reeves, Roger, Faulkner, Georgine, Wiltshire, Tim J, Vainzof, Mariz, Valle, Giorgio, Moreira, Eloisa S, Nilforoushan, Antje, Passos-Bueno, M. R, Suzuki, Oscar T, Jenne, Dieter E, Zatz, Mayana

“…Autosomal recessive limb-girdle muscular dystrophies (AR LGMDs) are a genetically heterogeneous group of disorders that affect mainly the proximal musculature…”
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Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) by Moreira, Eloisa S., Silva, Isabela M.W., Lourenço, Naila, Moreira, Danielle P., Ribeiro, Cintia M., Martins, Ana Luiza B., Griesi-Oliveira, Karina, Lazar, Monize, Costa, Silvia S., Naslavsky, Michel S., Rocha, Kátia M., Aguena, Meire, Fett-Conte, Agnes C., Zatz, Mayana, Rosenberg, Carla, Zachi, Elaine C., Bertola, Débora R., Vadasz, Estevão, Passos-Bueno, Maria Rita

“…•Prevalence of rare, potentially pathogenic CNVs was 9% in an idiopathic ASD cohort.•Forty percent of the CNVs detected in the non-syndromic cases were small…”
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Acute promyelocytic leukemia with t(15;17): frequency of additional clonal chromosome abnormalities and FLT3 mutations by De Lourdes Chauffaille, Maria, Borri, Daniela, Proto-Siqueira, Rodrigo, Moreira, Eloisa S., Alberto, Fernando L.

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Factors associated with the intensity of liver fibrosis in renal transplant patients with hepatitis B virus infection by Matos, Carla A.L, Perez, Renata M, Lemos, Lara B, Medina-Pestana, José O, Lanzoni, Valeria P, Alberto, Fernando L, Moreira, Eloísa S, Silva, Antonio Eduardo B, Ferraz, Maria Lucia G

“…BACKGROUNDHepatitis B may show a more aggressive course after kidney transplantation, but the factors associated with the progression of fibrosis in this group…”
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Telethonin protein expression in neuromuscular disorders by Vainzof, Mariz, Moreira, Eloisa S, Suzuki, Oscar T, Faulkner, Georgine, Valle, Georgio, Beggs, Alan H, Carpen, Olli, Ribeiro, Alberto F, Zanoteli, Edmar, Gurgel-Gianneti, Juliana, Tsanaclis, Ana Maria, Silva, Helga C.A, Passos-Bueno, Maria Rita, Zatz, Mayana

“…Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles. Mutations in the telethonin gene cause limb–girdle muscular…”
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Dysferlin protein analysis in limb-girdle muscular dystrophies by Vainzof, M, Anderson, L V, McNally, E M, Davis, D B, Faulkner, G, Valle, G, Moreira, E S, Pavanello, R C, Passos-Bueno, M R, Zatz, M

“…Dysferlin is the protein product of the DYSF gene mapped at 2p31, which mutations cause limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy…”
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A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma by IUGHETTI, Paula, SUZUKI, Oscar, MOREIRA-FILHO, Carlos Alberto, SIMOSON, Andrew, OLIVA, Glaucius, PASSOS-BUENO, Maria Rita, GODOI, Paulo H. C, FERREIRA ALVES, Venancio Avancini, SERTIE, Andrea L, ZORICK, Todd, SOARES, Fernando, CAMARGO, Anamaria, MOREIRA, Eloisa S, DI LORETO, Celso

“…We have performed association studies between a novel coding single nucleotide polymorphism (D104N) in endostatin, one of the most potent inhibitors of…”
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Acute Promyelocytic Leukemia with T(15;17): Frequency of Additional Clonal Chromosome Abnormalities and FLT3 by Chauffaille, Maria L., Siqueira, Rodrigo Proto, Borri, Daniela, Moreira, Eloisa S., Alberto, Fernando L.

“…Acute promyelocytic leukemia (APL) is a distinct subtype of acute myeloid leukemia (AML) characterized by t(15;17)(q22;q21), a balanced reciprocal…”
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The Seventh Form of Autosomal Recessive Limb-Girdle Muscular Dystrophy Is Mapped to 17q11-12 by Moreira, Eloisa S., Vainzof, Mariz, Marie, Sueli K., Sertie, Andrea L., Zatz, Mayana, Passos-Bueno, Maria R.

“…The group of autosomal recessive (AR) muscular dystrophies includes, among others, two main clinical entities, the limb-girdle muscular dystrophies (LGMDs) and…”
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A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies by Moreira, E S, Vainzof, M, Marie, S K, Nigro, V, Zatz, M, Passos-Bueno, M R

“…Among the heterogeneous group of autosomal recessive limb-girdle muscular dystrophies (AR LGMDs), the sarcoglycanopathies (LGMD2C-2F) represent a subgroup…”
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Confirmation of the 2p Locus for the Mild Autosomal Recessive Limb-Girdle Muscular Dystrophy Gene (LGMD2B) in Three Families Allows Refinement of the Candidate Region by Passos-Bueno, M.Rita, Bashir, Ramaisa, Moreira, Eloisa S., Vainzof, Mariz, Marie, Suely K., Vasquez, Luciana, Iughetti, Paula, Bakker, Egbert, Keers, Sharon, Stephenson, Anthea, Strachan, Tom, Mahneh, Ibrahim, Weissenbach, Jean, Bushby, Katharine, Zatz, Mayana

“…The mild autosomal recessive limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of muscle diseases. The first gene to be mapped and associated…”
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Partial α‐sarcoglycan deficiency with retention of the dystrophin‐glycoprotein complex in a LGMD2D family by Vainzof, Mariz, Moreira, Eloisa S., Canovas, Marta, Anderson, Louise V.B., Pavanello, Rita C.M., Passos‐Bueno, Maria Rita, Zatz, Mayana

“…In patients with sarcoglycan (SG) deficiency, a primary defect in any one of the four SG proteins usually leads to reduced expression of the whole SG complex…”
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Deficiency of alpha-actinin-3 (ACTN3) occurs in different forms of muscular dystrophy by Vainzof, M, Costa, C S, Marie, S K, Moreira, E S, Reed, U, Passos-Bueno, M R, Beggs, A H, Zatz, M

“…The alpha-actinins belong to a superfamily of cytoskeletal proteins, and their role in human genetic diseases is still unclear. Therefore, they could be good…”
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Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation? by Maranduba, Carlos Magno da Costa, Sá Moreira, Eloísa, Müller Orabona, Guilherme, Cássia Pavanello, Rita, Vianna-Morgante, Angela M., Rita Passos-Bueno, Maria

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Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G by Passos-Bueno, Maria Rita, Vainzof, Mariz, Moreira, Eloisa S., Zatz, Mayana

“…The autosomal recessive limb‐girdle muscular dystrophies (AR‐LGMDs) are a heterogeneous group of disorders of progressive weakness of the pelvic and shoulder…”
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A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy by Bueno, M R, Moreira, E S, Vainzof, M, Chamberlain, J, Marie, S K, Pereira, L, Akiyama, J, Roberds, S L, Campbell, K P, Zatz, M

“…Autosomal recessive limb-girdle muscular dystrophies (AR LGMD) represent a heterogeneous group of diseases with a wide spectrum of clinical variability,…”
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