Search Results - "Segal, Sandra"

"The Tragedy of the Commons": How Individualism and Collectivism Affected the Spread of the COVID-19 Pandemic by Maaravi, Yossi, Levy, Aharon, Gur, Tamar, Confino, Dan, Segal, Sandra

“…Why did COVID-19 hit some countries harder than others? While this question is usually answered based on demographics (e. g., population age), health policy…”
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Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease by Martins, Carla, Medeiros, Paula Frassinetti V., Leistner‐Segal, Sandra, Dridi, Larbi, Elcioglu, Nursel, Wood, Jill, Behnam, Mahdiyeh, Noyan, Bilge, Lacerda, Lucia, Geraghty, Michael T., Labuda, Damian, Giugliani, Roberto, Pshezhetsky, Alexey V.

“…Mucopolysaccharidosis type IIIC (MPSIIIC) is a severe, rare autosomal recessive disorder caused by variants in the heparan‐α‐glucosaminide N‐acetyltransferase…”
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Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region by Santos‐Lopes, Simone Silva, Oliveira, Jessica Maria Florêncio, Queiroga Nascimento, Denise, Montenegro, Yorran Hardman Araújo, Leistner‐Segal, Sandra, Brusius‐Facchin, Ana Carolina, Eufrazino Gondim, Cátia, Giugliani, Roberto, Medeiros, Paula Frassinetti Vasconcelos

“…Mucopolysaccharidosis (MPS) IVA is a rare autosomal recessive disease with a highly variable distribution worldwide. Discrepancies in the incidence of MPS IVA…”
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Back Cover, Volume 40, Issue 8 by Martins, Carla, Medeiros, Paula Frassinetti V., Leistner‐Segal, Sandra, Dridi, Larbi, Elcioglu, Nursel, Wood, Jill, Behnam, Mahdiyeh, Noyan, Bilge, Lacerda, Lucia, Geraghty, Michael T., Labuda, Damian, Giugliani, Roberto, Pshezhetsky, Alexey V.

“…On the Back Cover: The back‐cover image is based on the Research Article Molecular characterization of a large group of Mucopolysaccharidosis type IIIC…”
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A Secure Base for Entrepreneurship: Attachment Orientations and Entrepreneurial Tendencies by Segal, Sandra, Mikulincer, Mario, Hershkovitz, Lihi, Meir, Yuval, Nagar, Tamir, Maaravi, Yossi

“…Entrepreneurship catalyzes economic growth; it generates jobs, advances the economy and solves global challenges. Hence, it is crucial to understand the…”
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Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy by Kubaski, Francyne, Herbst, Zackary M., Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Trapp, Franciele B., Gus, Rejane, Netto, Alice B. O., Brusius‐Facchin, Ana Carolina, Leistner‐Segal, Sandra, Sanseverino, Maria Teresa, Souza, Carolina Moura Fischinger de, Wilke, Matheus V. M. B., Oliveira, Thiago, Magalhães, Jose A. A., Giugliani, Roberto

“…Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of…”
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Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII by Kubaski, Francyne, Brusius‐Facchin, Ana Carolina, Mason, Robert W., Patel, Pravin, Burin, Maira G., Michelin‐Tirelli, Kristiane, Kessler, Rejane Gus, Bender, Fernanda, Leistner‐Segal, Sandra, Moreno, Carolina A., Cavalcanti, Denise P., Giugliani, Roberto, Tomatsu, Shunji

“…Objective The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age‐matched fetuses…”
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Genetic causes of intellectual disability in a birth cohort: A population-based study by Karam, Simone M., Riegel, Mariluce, Segal, Sandra L., Félix, Têmis M., Barros, Aluísio J. D., Santos, Iná S., Matijasevich, Alicia, Giugliani, Roberto, Black, Maureen

“…Intellectual disability affects approximately 1–3% of the population and can be caused by genetic and environmental factors. Although many studies have…”
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Population medical genetics: translating science to the community by Giugliani, Roberto, Bender, Fernanda, Couto, Rowena, Bochernitsan, Aline, Brusius-Facchin, Ana Carolina, Burin, Maira, Amorim, Tatiana, Acosta, Angelina Xavier, Purificação, Antônio, Leistner-Segal, Sandra, Saraiva-Pereira, Maria Luiza, Jardim, Laura Bannach, Matte, Ursula, Riegel, Mariluce, Cardoso-Dos-Santos, Augusto César, Rodrigues, Graziella, Oliveira, Marcelo Zagonel de, Tagliani-Ribeiro, Alice, Heck, Selia, Dresch, Vanusa, Schuler-Faccini, Lavínia, Kubaski, Francyne

“…Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The…”
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Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability by Mattos, Eduardo P., Silva, André Anjos da, Magalhães, José Antônio A, Leite, Júlio César L., Leistner-Segal, Sandra, Gus-Kessler, Rejane, Perez, Juliano Adams, Vedolin, Leonardo M., Torreblanca-Zanca, Albertina, Lapunzina, Pablo, Ruiz-Perez, Victor L., Sanseverino, Maria Teresa V.

“…In some cases Neu‐Laxova syndrome (NLS) is linked to serine deficiency due to mutations in the phosphoglycerate dehydrogenase (PHGDH) gene. We describe the…”
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Diagnosis of Mucopolysaccharidoses by Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Burin, Maira Graeff, Rojas-Málaga, Diana, Brusius-Facchin, Ana Carolina, Leistner-Segal, Sandra, Giugliani, Roberto

“…The mucopolysaccharidoses (MPSs) include 11 different conditions caused by specific enzyme deficiencies in the degradation pathway of glycosaminoglycans…”
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Important aspects in the molecular diagnosis of mucopolysaccharidoses by Brusius-Facchin, Ana Carolina, Kubaski, Francyne, Giugliani, Roberto, Leistner-Segal, Sandra

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A clinical study of 77 patients with mucopolysaccharidosis type II by Schwartz, Ida VD, Ribeiro, Márcia G, Mota, João G, Toralles, Maria Betânia P, Correia, Patrícia, Horovitz, Dafne, Santos, Emerson S, Monlleo, Isabella L, Fett-Conte, Agnes C, Sobrinho, Ruy P Oliveira, Norato, Denise YJ, Paula, Anna Carolina, Kim, Chong A, Duarte, Andréa R, Boy, Raquel, Valadares, Eugênia, De Michelena, Maria, Mabe, Paulina, Martinhago, Cyro D, Pina-Neto, João M, Kok, Fernando, Leistner-Segal, Sandra, Burin, Maira G, Giugliani, Roberto

“…Aim: This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). Methods: Details…”
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Methylation of BDNF and SLC6A4 Gene Promoters in Brazilian Patients With Temporal Lobe Epilepsy Presenting or Not Psychiatric Comorbidities by Bandeira, Isabel Cristina, Giombelli, Lucas, Werlang, Isabel Cristina, Abujamra, Ana Lucia, Secchi, Thais Leite, Brondani, Rosane, Bragatti, José Augusto, Bizzi, Jorge Wladimir Junqueira, Leistner-Segal, Sandra, Bianchin, Marino Muxfeldt

“…The relationship between epilepsy and psychiatric comorbidities has been recognized for centuries, but its pathophysiological mechanisms are still…”
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TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients by Hahn, Eriza Cristina, Bittar, Camila Matzenbacher, Vianna, Fernanda Sales Luis, Netto, Cristina Brinckmann Oliveira, Biazús, Jorge Villanova, Cericatto, Rodrigo, Cavalheiro, José Antônio, de Melo, Márcia Portela, Menke, Carlos Henrique, Rabin, Eliane, Leistner-Segal, Sandra, Ashton-Prolla, Patricia

“…Premenopausal breast cancer (BC) is a core tumor of Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) Syndromes, predisposition disorders caused by germline…”
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Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil by Kersting, Nathalia, Fontana, Juliana Cristine, Athayde, Fabiane Pohlmann de, Carlotto, Fernanda Marcante, Machado, Bruna Accorsi, Araújo, Cristiane da Silva Rodrigues de, Sekine, Leo, Onsten, Tor Gunnar Hugo, Leistner-Segal, Sandra

“…Hereditary Hemochromatosis is a disorder characterized by iron deposition in several organs and hyperferritinemia. The most studied variants are linked to the…”
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Lack of association between the Serotonin Transporter Promoter Polymorphism (5-HTTLPR) and Panic Disorder: a systematic review and meta-analysis by Blaya, Carolina, Salum, Giovanni A, Lima, Maurício S, Leistner-Segal, Sandra, Manfro, Gisele G

“…The aim of this study is to assess the association between the Serotonin Transporter Promoter Polymorphism (5-HTTLPR) and Panic Disorder (PD). This is a…”
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Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network by Montenegro, Yorran Hardman Araújo, Souza, Carolina Fischinger Moura, Kubaski, Francyne, Trapp, Franciele Barbosa, Burin, Maira Graeff, Michelin‐Tirelli, Kristiane, Leistner‐Segal, Sandra, Facchin, Ana Carolina Brusius, Medeiros, Fernanda S., Giugliani, Luciana, Ribeiro, Erlane Marques, Lourenço, Charles Marques, Cardoso‐dos‐Santos, Augusto César, Ribeiro, Márcia Gonçalves, Kim, Chong Ae, Castro, Matheus Augusto Araújo, Embiruçu, Emília Katiane, Steiner, Carlos Eduardo, Moreira, Maria Lucia Castro, Montano, Hector Quintero, Baldo, Guilherme, Giugliani, Roberto

“…Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N‐acetyl‐alpha‐d‐glucosaminidase (NAGLU),…”
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Reconsider what your MBA negotiation course taught you: The possible adverse effects of high salary requests by Maaravi, Yossi, Segal, Sandra

“…Four experiments and a pilot study (with online workers or HR specialists) explored the psychological and economic consequences of high (but not extreme)…”
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Severe phenotype in MPS II patients associated with a large deletion including contiguous genes by Brusius-Facchin, Ana Carolina, De Souza, Carolina Fischinger Moura, Schwartz, Ida Vanessa D., Riegel, Mariluce, Melaragno, Maria Isabel, Correia, Patrícia, Moraes, Lúcia Marques, Llerena Jr, Juan, Giugliani, Roberto, Leistner-Segal, Sandra

“…Hunter disease or mucopolysaccharidosis type II (MPS II) is an X‐linked recessive lysosomal disorder caused by the deficiency of iduronate‐2‐sulfatase, which…”
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