Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization
Gurgel-Giannetti, Juliana, Souza, Lucas Santos, Yamamoto, Guilherme L, Belisario, Marina, Lazar, Monize, Campos, Wilson, Pavanello, Rita de Cassia M, Zatz, Mayana, Reed, Umbertina, Zanoteli, Edmar, Oliveira, Acary Bulle, Lehtokari, Vilma-Lotta, Casella, Erasmo B, Machado-Costa, Marcela C, Wallgren-Pettersson, Carina, Laing, Nigel G, Nigro, Vincenzo, Vainzof, Mariz
Published in International journal of molecular sciences (09.10.2022)
Published in International journal of molecular sciences (09.10.2022)
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Assessing Pathogenicity for Novel Mutation/Sequence Variants: The Value of Healthy Older Individuals
Zatz, Mayana, Pavanello, Rita de Cassia M., Lourenço, Naila Cristina V., Cerqueira, Antonia, Lazar, Monize, Vainzof, Mariz
Published in Neuromolecular medicine (01.12.2012)
Published in Neuromolecular medicine (01.12.2012)
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Journal Article
Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype
Souza, Lucas Santos, Almeida, Camila Freitas, Yamamoto, Guilherme Lopes, Pavanello, Rita de Cássia Mingroni, Gurgel-Giannetti, Juliana, da Costa, Silvia Souza, Anequini, Isabela Pessa, do Carmo, Silvana Amanda, Wang, Jaqueline Yu Ting, Scliar, Marília de Oliveira, Castelli, Erick C, Otto, Paulo Alberto, Zanoteli, Edmar, Vainzof, Mariz
Published in Neurology. Genetics (01.10.2020)
Published in Neurology. Genetics (01.10.2020)
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Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate
GASPAR, Dinamar A, MATIOLI, Sergio R, DE CASSIA PAVANELLO, Rita, ARAUJO, Belmino C, ALONSO, Nivaldo, WYSZYNSKI, Diego, PASSOS-BUENO, Maria Rita
Published in European journal of human genetics : EJHG (01.07.2004)
Published in European journal of human genetics : EJHG (01.07.2004)
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Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome
Mazzeu, Juliana F., Krepischi-Santos, Ana Cristina, Rosenberg, Carla, Szuhai, Karoly, Knijnenburg, Jeroen, Weiss, Janneke M.M., Kerkis, Irina, Mustacchi, Zan, Colin, Guilherme, Mombach, Rômulo, Pavanello, Rita de Cássia M., Otto, Paulo A., Vianna-Morgante, Angela M.
Published in American journal of medical genetics. Part A (01.08.2007)
Published in American journal of medical genetics. Part A (01.08.2007)
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Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum
DE PAULA, Flavia, VIEIRA, Natassia, STARLING, Alessandra, YAMAMOTO, Lydia Uraco, LIMA, Bruno, DE CASSIA PAVANELLO, Rita, VAINZOF, Mariz, NIGRO, Vincenzo, ZATZ, Mayana
Published in European journal of human genetics : EJHG (01.12.2003)
Published in European journal of human genetics : EJHG (01.12.2003)
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Journal Article
Clinical variability in calpainopathy: what makes the difference?
de Paula, Flávia, Vainzof, Mariz, Passos-Bueno, Maria Rita, de Cássia M Pavanello, Rita, Matioli, Sergio Russo, V B Anderson, Louise, Nigro, Vincenzo, Zatz, Mayana
Published in European journal of human genetics : EJHG (01.12.2002)
Published in European journal of human genetics : EJHG (01.12.2002)
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Journal Article
Dystrophin Is Required for Proper Functioning of Luminance and Red-Green Cone Opponent Mechanisms in the Human Retina
Barboni, Mirella Telles Salgueiro, Martins, Cristiane Maria Gomes, Nagy, Balázs Vince, Tsai, Tina, Damico, Francisco Max, da Costa, Marcelo Fernandes, de Cassia, Rita, Pavanello, M, Lourenço, Naila Cristina Vilaça, de Cerqueira, Antonia Maria Pereira, Zatz, Mayana, Kremers, Jan, Ventura, Dora Fix
Published in Investigative ophthalmology & visual science (01.07.2016)
Published in Investigative ophthalmology & visual science (01.07.2016)
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Journal Article
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients
Galleni Leão, Leonardo, Santos Souza, Lucas, Nogueira, Letícia, Pavanello, Rita de Cássia Mingroni, Gurgel-Giannetti, Juliana, Reed, Umbertina C, Oliveira, Acary S B, Cuperman, Thais, Cotta, Ana, FPaim, Julia, Zatz, Mayana, Vainzof, Mariz
Published in Acta myologica (01.12.2020)
Published in Acta myologica (01.12.2020)
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Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2
Passos-Bueno, Maria Rita, Armelin, Lucia Maria, Alonso, Luís Garcia, Neustein, Isaac, Sertié, Andréa L, Abe, Kikue, Pavanello, Rita de Cássia, Elkis, Lívia C, Koiffmann, Célia P
Published in American journal of medical genetics (22.11.2002)
Published in American journal of medical genetics (22.11.2002)
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Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy
Zatz, Mayana, Rapaport, Debora, Vainzof, Mariz, Passos-Bueno, Maria Rita, Bortolini, Eliete R., Pavanello, Rita de Cassia M., Peres, Clovis A.
Published in Journal of the neurological sciences (01.04.1991)
Published in Journal of the neurological sciences (01.04.1991)
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Journal Article
Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype
Vainzof, Mariz, Passos-Bueno, Maria Rita, Takata, Reinaldo I., Pavanello, Rita de Cassia M., Zatz, Mayana
Published in Journal of the neurological sciences (01.10.1993)
Published in Journal of the neurological sciences (01.10.1993)
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Journal Article
Screening of glycerol kinase deficiency in patients affected by Duchenne and Becker muscular dystrophy
Schreiber, Roberto, Passos-Bueno, Maria Rita, Rapaport, Debora, de Cassia Pavanello, Rita, Vainzof, Mariz, Fernandes, Maria Eugenia S., Zatz, Mayana
Published in Clinica chimica acta (31.07.1992)
Published in Clinica chimica acta (31.07.1992)
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Journal Article
Steroids in duchenne muscular dystrophy
Zatz, Mayana, Pavanello, Rita de Cassia M., Vainzof, Mariz, Passos-Bueno, Maria Rita
Published in Neuromuscular disorders : NMD (1992)
Published in Neuromuscular disorders : NMD (1992)
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Journal Article
Effect of mazindol on growth hormone levels in patients with Duchenne muscular dystrophy
Zatz, M, Rapaport, D, Vainzof, M, Pavanello, R de C, Rocha, J M, Betti, R T, Otto, P A
Published in American journal of medical genetics (01.12.1988)
Published in American journal of medical genetics (01.12.1988)
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Journal Article
Mazindol and growth hormone inhibition in Duchenne muscular dystrophy
Zatz, M, Vainzof, M, Rapaport, D, da Rocha, J M, Pavanello, R de C, Betti, R T
Published in American journal of medical genetics (01.08.1987)
Published in American journal of medical genetics (01.08.1987)
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Relationship between Mayer-Rokitansky-Küster (MRK) anomaly and hereditary renal adysplasia (HRA)
Pavanello, R de C, Eigier, A, Otto, P A
Published in American journal of medical genetics (01.04.1988)
Published in American journal of medical genetics (01.04.1988)
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Journal Article
Fragile X frequency in a mentally retarded population in Brazil
Mingroni-Netto, R C, Rosenberg, C, Vianna-Morgante, A M, Pavanello, R de C
Published in American journal of medical genetics (01.01.1990)
Published in American journal of medical genetics (01.01.1990)
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Journal Article
Relation between height and clinical course in Duchenne muscular dystrophy
Zatz, M, Rapaport, D, Vainzof, M, Rocha, J M, Pavanello, R de C, Colletto, G M, Peres, C A
Published in American journal of medical genetics (01.02.1988)
Published in American journal of medical genetics (01.02.1988)
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