Mechanisms of structural chromosomal rearrangement formation von Burssed, Bruna, Zamariolli, Malú, Bellucco, Fernanda Teixeira, Melaragno, Maria Isabel

Volltext

Spread of X‐chromosome inactivation into autosomal regions in patients with unbalanced X‐autosome translocations and its phenotypic effects von Favilla, Bianca Pereira, Meloni, Vera Ayres, Perez, Ana Beatriz, Moretti‐Ferreira, Danilo, Souza, Deise Helena, Bellucco, Fernanda Teixeira, Melaragno, Maria Isabel

Volltext

Copy number variation (CNV) identification, interpretation, and database from Brazilian patients von Godoy, Victória Cabral Silveira Monteiro de, Bellucco, Fernanda Teixeira, Colovati, Mileny, Oliveira-Junior, Hélio Rodrigues de, Moysés-Oliveira, Mariana, Melaragno, Maria Isabel

Volltext

DRD1 rs4532 polymorphism: A potential pharmacogenomic marker for treatment response to antipsychotic drugs von Ota, Vanessa Kiyomi, Spíndola, Letícia Nery, Gadelha, Ary, Santos Filho, Airton Ferreira dos, Santoro, Marcos Leite, Christofolini, Denise Maria, Bellucco, Fernanda Teixeira, Ribeiro-dos-Santos, Ândrea Kely, Santos, Sidney, Mari, Jair de Jesus, Melaragno, Maria Isabel, Bressan, Rodrigo Affonseca, Smith, Marilia de Arruda Cardoso, Belangero, Sintia Iole

Volltext

Novel MYT1 variants expose the complexity of oculo‐auriculo‐vertebral spectrum genetic mechanisms von Zamariolli, Malú, Burssed, Bruna, Moysés‐Oliveira, Mariana, Colovati, Mileny, Bellucco, Fernanda Teixeira da Silva, Santos, Leonardo Caires, Alvarez Perez, Ana Beatriz, Bragagnolo, Silvia, Melaragno, Maria Isabel

Volltext

A rare case of trisomy 15pter‐q21.2 due to a de novo marker chromosome von Pacanaro, Ade Nubia Xavier, Christofolini, Denise Maria, Kulikowski, Leslie Domenici, Belangero, Sintia Iole Nogueira, da Silva Bellucco, Fernanda Teixeira, Varela, Monica C., Koiffmann, Celia P., Yoshimoto, Maisa, Squire, Jeremy A., Schiavon, Adriana V., Heck, Benjamin, Melaragno, Maria Isabel

Volltext

Trisomy 16q21 → qter: Seven‐year follow‐up of a girl with unusually long survival von de Carvalho, Acácia Fernandes Lacerda, da Silva Bellucco, Fernanda Teixeira, dos Santos, Normeide Pedreira, Pellegrino, Renata, de Azevedo Moreira, Lília Maria, Toralles, Maria Betania Pereira, Kulikowski, Leslie Domenici, Melaragno, Maria Isabel

Volltext

Candidate genes for schizophrenia in a mixed Brazilian population using pooled DNA von Kiyomi Ota, Vanessa, Gadelha, Ary, Pellegrino, Renata, Leite Santoro, Marcos, Teixeira Bellucco, Fernanda, Maria Christofolini, Denise, Lima Ottoni, Gustavo, Rizzato Lara, Diogo, Ribeiro-dos-Santos, Ândrea Kely, Santos, Sidney, Jesus Mari, Jair, Breen, Gerome, Cardoso Smith, Marília Arruda, Affonseca Bressan, Rodrigo, Isabel Melaragno, Maria, Iole Belangero, Sintia

Volltext

Investigating 22q11.2 Deletion and Other Chromosomal Aberrations in Fetuses With Heart Defects Detected by Prenatal Echocardiography von Bellucco, Fernanda Teixeira da Silva, Belangero, Sintia Iole Nogueira, Farah, Leila Montenegro Silveira, Machado, Maria Virgínia Lima, Cruz, Adriano Pastor, Lopes, Lílian Maria, Lopes, Marco Antonio Borges, Zugaib, Marcelo, Cernach, Mirlene Cecília, Melaragno, Maria Isabel

Volltext

The UFD1L rs5992403 polymorphism is associated with age at onset of schizophrenia von Ota, Vanessa Kiyomi, Belangero, Sintia Iole, Gadelha, Ary, Bellucco, Fernanda Teixeira, Christofolini, Denise Maria, Mancini, Tatiane Iris, Ribeiro-dos-Santos, Ândrea Kelly, Santos, Sidney Emanuel, de Jesus Mari, Jair, Bressan, Rodrigo Affonseca, Melaragno, Maria Isabel, de Arruda Cardoso Smith, Marilia

Volltext

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation von de Carvalho, Acácia Fernandes Lacerda, da Silva Bellucco, Fernanda Teixeira, Kulikowski, Leslie Domenici, Toralles, Maria Betânia Pereira, Melaragno, Maria Isabel

Volltext

Fold-back mechanism originating inv-dup-del rearrangements in chromosomes 13 and 15 von Burssed, Bruna, Zamariolli, Malú, Favilla, Bianca Pereira, Meloni, Vera Ayres, Goloni-Bertollo, Eny Maria, Bellucco, Fernanda Teixeira, Melaragno, Maria Isabel

Volltext

Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome von Favilla, Bianca Pereira, Burssed, Bruna, Yamashiro Coelho, Érika Mitie, Perez, Ana Beatriz Alvarez, de Faria Soares, Maria de Fátima, Meloni, Vera Ayres, Bellucco, Fernanda Teixeira, Melaragno, Maria Isabel

Volltext

Interrupted aortic arch type B in A patient with cat eye syndrome von Belangero, Sintia Iole Nogueira, Bellucco, Fernanda Teixeira da Silva, Cernach, Mirlene C S P, Hacker, April M, Emanuel, Beverly S, Melaragno, Maria Isabel

Volltext

Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation von Kulikowski, Leslie Domenici, Yoshimoto, Maisa, Teixeira da Silva Bellucco, Fernanda, Nogueira Belangero, Sintia Iole, Christofolini, Denise Maria, Xavier Pacanaro, Ade Nubia, Bortolai, Adriana, de Arruda Cardoso Smith, Marilia, Squire, Jeremy A, Melaragno, Maria Isabel

Volltext

DGCR2 influences cortical thickness through a mechanism independent of schizophrenia pathogenesis von Belangero, Sintia Iole, Ota, Vanessa Kiyomi, Gadelha, Ary, Berberian, Arthur Almeida, Assunção-Leme, Idaiane Batista de, Noto, Cristiano, Christofolini, Denise Maria, Bellucco, Fernanda Teixeira, Santoro, Marcos Leite, Mazzotti, Diego Robles, Zugman, André, Melaragno, Maria Isabel, Smith, Marilia Arruda Cardoso, Pellegrino, Renata, Hakonarson, Hakon, Cordeiro, Quirino, Moretti, Patricia Natalia, Bressan, Rodrigo Affonseca, Mari, Jair de Jesus, Jackowski, Andrea Parolin

Volltext

Partial 5p monosomy or trisomy in 11 patients from a family with a t von de Carvalho, Acácia Fernandes Lacerda, da Silva Bellucco, Fernanda Teixeira, Kulikowski, Leslie Domenici, Toralles, Maria Betânia Pereira, Melaragno, Maria Isabel

Volltext

Trisomy 16q21 right arrow qter: Seven-year follow-up of a girl with unusually long survival von De Carvalho, Acacia Fernandes Lacerda, Da Silva Bellucco, Fernanda Teixeira, Dos Santos, Normeide Pedreira, Pellegrino, Renata, De Azevedo Moreira, Lilia Maria, Toralles, Maria Betania Pereira, Kulikowski, Leslie Domenici, Melaragno, Maria Isabel

Volltext

Interrupção do arco aórtico tipo B em uma paciente com síndrome de olho de gato von Belangero, Sintia Iole Nogueira, Bellucco, Fernanda Teixeira da Silva, Cernach, Mirlene C. S. P., Hacker, April M., Emanuel, Beverly S., Melaragno, Maria Isabel

Volltext

Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome von Favilla, Bianca Pereira, Burssed, Bruna, Yamashiro Coelho, Érika Mitie, Perez, Ana Beatriz Alvarez, de Faria Soares, Maria de Fátima, Meloni, Vera Ayres, Bellucco, Fernanda Teixeira, Melaragno, Maria Isabel

Volltext