Environmental discourse in Brazilian English-as-a-foreign-language textbooks: socio-discursive practices and their implications for developing students' critical environmental lite... von Cristovão, Vera Lúcia Lopes, Sanches, Bruno, Smart, Graham

Volltext

Familial Aggregation of Childhood‐ and Adulthood‐Onset Systemic Lupus Erythematosus von Sinicato, Nailú Angélica, Oliveira, Luciana, Lapa, AlineTamires, Postal, Mariana, Peliçari, Karinade Oliveira, Costallat, Lilian T. L., Marini, Roberto, Gil‐da‐Silva‐Lopes, Vera Lúcia, Niewold, Timothy B., Appenzeller, Simone

Volltext

Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration von Correia‐Costa, Gabriela Roldão, Leeuw, Nicole, Pfundt, Rolph, Sgardioli, Ilária Cristina, Santos, Ana Paula, Lima Santos, Marilza, Gil‐da‐Silva‐Lopes, Vera Lúcia, Vieira, Társis Paiva

Volltext

Demographic history differences between Hispanics and Brazilians imprint haplotype features von da Cruz, Pedro Rodrigues Sousa, Ananina, Galina, Secolin, Rodrigo, Gil-da-Silva-Lopes, Vera Lúcia, Lima, Carmen Silvia Passos, de França, Paulo Henrique Condeixa, Donatti, Amanda, Lourenço, Gustavo Jacob, de Araujo, Tânia Kawasaki, Simioni, Milena, Lopes-Cendes, Iscia, Costa, Fernando Ferreira, de Melo, Mônica Barbosa

Volltext

A recognizable phenotype related to 19p13.12 microdeletion von de Souza, Laiara Cristina, Sgardioli, Ilária Cristina, Gil‐da‐Silva‐Lopes, Vera Lúcia, Vieira, Társis Paiva

Volltext

Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil von Silva, Isabela Mayá Wayhs, Gil-da-Silva-Lopes, Vera Lúcia

Volltext

An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis von Silva, Isabela Mayá Wayhs, Gil-da-Silva-Lopes, Vera Lúcia

Volltext

Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation von Simioni, Milena, Araujo, Tânia Kawasaki, Monlleo, Isabella Lopes, Maurer-Morelli, Cláudia Vianna, Gil-da-Silva-Lopes, Vera Lúcia

Volltext

Pure 21q22.3 deletion identified in a patient with mild phenotypic features von Sgardioli, Ilária Cristina, Copelli, Matheus de Melo, Lustosa‐Mendes, Elaine, Vieira, Társis Paiva, Gil‐da‐Silva‐Lopes, Vera Lúcia

Volltext

A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype–phenotype correlation and risk of recombinant chromosomes based on systematic review of the l... von Lustosa‐Mendes, Elaine, dos Santos, Ana Paula, Viguetti‐Campos, Nilma Lúcia, Vieira, Társis Paiva, Gil‐da‐Silva‐Lopes, Vera Lúcia

Volltext

Syndromic Oral Clefts: Challenges of Genetic Assessment in Brazil and Suggestions to Improve Health Policies von Gil-da-Silva-Lopes, Vera Lúcia, Fontes, Marshall Italo Barros, dos antos, Ana Paula, Appenzeller, Simone, Fett-Conte, Agnes Cristina, Francisquetti, Marina Cristine Cano, Monlleó, Isabella Lopes

Volltext

How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil? von Francisquetti, Marina Cristine Cano, Gil-da-Silva-Lopes, Vera Lúcia, Fett-Conte, Agnes Cristina

Volltext

A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication von Francese-Santos, Ana Paula, Meinel, Jakob A, Piveta, Cristiane S C, Andrade, Juliana G R, Barros, Beatriz A, Fabbri-Scallet, Helena, Gil-da-Silva-Lopes, Vera Lúcia, Guerra-Junior, Gil, Künstner, Axel, Busch, Hauke, Hiort, Olaf, de Mello, Maricilda P, Werner, Ralf, Maciel-Guerra, Andréa T

Volltext

Copy number variation in the susceptibility to systemic lupus erythematosus von Barbosa, Fernanda Bueno, Simioni, Milena, Wiezel, Cláudia Emília Vieira, Torres, Fábio Rossi, Molck, Miriam Coelho, Bonilla, Melvin M, de Araujo, Tânia Kawasaki, Donadi, Eduardo Antônio, Gil-da-Silva-Lopes, Vera Lúcia, Lemos, Bernardo, Simões, Aguinaldo Luiz

Volltext

Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health von Sgardioli, Ilária Cristina, Paoli Monteiro, Fabíola, Fanti, Paulo, Paiva Vieira, Társis, Gil-da-Silva-Lopes, Vera Lúcia

Volltext

Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC) von Ranji, Peyman, Pairet, Eleonore, Helaers, Raphael, Bayet, Bénédicte, Gerdom, Alexander, Gil-da-Silva-Lopes, Vera Lúcia, Revencu, Nicole, Vikkula, Miikka

Volltext

Application of high‐resolution array platform for genome‐wide copy number variation analysis in patients with nonsyndromic cleft lip and palate von Silva, Heglayne Pereira Vital, Oliveira, Gustavo Henrique de Medeiros, Ururahy, Marcela Abbott Galvão, Bezerra, João Felipe, Souza, Karla Simone Costa, Bortolin, Raul Hernandes, Luchessi, André Ducati, Silbiger, Vivian Nogueira, Lima, Valéria Morgiana Gualberto Duarte Moreira, Leite, Gisele Correia Pacheco, Brito, Maria Edinilma Felinto, Ribeiro, Erlane Marques, Gil‐da‐Silva‐Lopes, Vera Lúcia, Rezende, Adriana Augusto

Volltext

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion von Guilherme, Roberta Santos, Soares, Karina Cunha, Simioni, Milena, Vieira, Tarsis Paiva, Gil-da-Silva-Lopes, Vera Lúcia, Kim, Chong Ae, Brunoni, Décio, Spinner, Nancy Bettina, Conlin, Laura Kathleen, Christofolini, Denise Maria, Kulikowski, Leslie Domenici, Steiner, Carlos Eduardo, Melaragno, Maria Isabel

Volltext

Insertional translocation of 15q25‐q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia von Simioni, Milena, Vieira, Társis Paiva, Sgardioli, Ilária Cristina, Freitas, Érika Lopes, Rosenberg, Carla, Maurer‐Morelli, Cláudia Vianna, Lopes‐Cendes, Iscia, Fett‐Conte, Agnes Cristina, Gil‐da‐Silva‐Lopes, Vera Lúcia

Volltext

Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investiga... von Correia-Costa, Gabriela Roldão, Sgardioli, Ilária Cristina, Santos, Ana Paula Dos, Araujo, Tânia Kawasaki de, Secolin, Rodrigo, Lopes-Cendes, Iscia, Gil-da-Silva-Lopes, Vera Lúcia, Vieira, Társis Paiva

Volltext