A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case von Samogy-Costa, Claudia Ismania, Varella-Branco, Elisa, Monfardini, Frederico, Ferraz, Helen, Fock, Rodrigo Ambrósio, Barbosa, Ricardo Henrique Almeida, Pessoa, André Luiz Santos, Perez, Ana Beatriz Alvarez, Lourenço, Naila, Vibranovski, Maria, Krepischi, Ana, Rosenberg, Carla, Passos-Bueno, Maria Rita

Volltext

Generation of two human induced pluripotent stem cell (hiPSC) lines derived from unrelated Marfan Syndrome patients von Borsoi, Juliana, Morato-Marques, Mariana, de Araújo Tofoli, Fabiano, Assis Pereira, Lucas, Farinha-Arcieri, Luis Ernesto, Delgado Sarafian, Raquel, Alvarez Perez, Ana Beatriz, Veiga Pereira, Lygia

Volltext

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity von D'Angelo, Carla Sustek, Varela, Monica Castro, de Castro, Claudia Irene Emílio, Otto, Paulo Alberto, Perez, Ana Beatriz Alvarez, Lourenço, Charles Marques, Kim, Chong Ae, Bertola, Debora Romeo, Kok, Fernando, Garcia-Alonso, Luis, Koiffmann, Celia Priszkulnik

Volltext

Precision and accuracy of streamflow measurements in headwater streams during baseflow von Santos, Camyla Innocente dos, Chaffe, Pedro Luiz Borges, Perez, Alondra Beatriz Alvarez, Arienti, Pedro Ferreira, Sá, João Henrique Macedo

Volltext

Determining the frequency of morphological characteristics in a sample of Brazilian children von Perrone, Eduardo, Zanolla, Thais Arbocese, Fock, Rodrigo Ambrosio, Perez, Ana Beatriz Alvarez, Brunoni, Decio

Volltext

Hydroclimatic drivers of at‐a‐station hydraulic geometry of Brazilian rivers von Perez, Alondra Beatriz Alvarez, Grison, Fernando, Souza, Kleber Isaac Silva de, Chaffe, Pedro Luiz Borges

Volltext

TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMENT VALIDITY FOR A MORPHOLOGICAL EXAMINATION PERFORMED IN CHILDREN WITH AUTISM SPECTRUM DISORDER von Zanolla, Thais Arbocese, Perrone, Eduardo, Fock, Rodrigo Ambrosio, Bordini, Daniela, Brentani, Helena Paula, Perez, Ana Beatriz Alvarez, Brunoni, Decio

Volltext

Observing the critical zone on a critical budget: The Peri Lake experimental catchment von Chaffe, Pedro Luiz Borges, Innocente dos Santos, Camyla, Perez, Alondra Beatriz Alvarez, Sá, João Henrique Macedo, Carlotto, Tomas, Hoinaski, Leonardo

Volltext

Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report von Cavole, Thiago Rodrigues, Perrone, Eduardo, Faria Soares, Maria de Fatima, Dias da Silva, Magnus Régios, Maeda, Sergio Setsuo, Lazaretti‐Castro, Marise, Alvarez Perez, Ana Beatriz

Volltext

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 von Migliavacca, Michele Patricia, Fock, Rodrigo Ambrosio, Almeida, Nadia, Cavalcanti, Thereza, Villela, Darine, Perez, Ana Beatriz Alvarez, Valle, David, Wohler, Elizabeth, Sobreira, Nara Lygia de Macena, Raskin, Salmo

Volltext

Clinical and molecular evaluation of 13 Brazilian patients with Gomez‐López‐Hernández syndrome von Perrone, Eduardo, Perez, Ana Beatriz Alvarez, D'Almeida, Vânia, Mello, Claudia Berlim, Jacobina, Marcela Amaral Avelino, Loureiro, Rafael Maffei, Burlin, Stênio, Migliavacca, Michele, Amaral Virmond, Luiza, Graziadio, Carla, Pedroso, José Luiz, Mendes, Elaine Lustosa, Gomy, Israel, Macena Sobreira, Nara Lygia

Volltext

Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review von Perrone, Eduardo, D'Almeida, Vânia, Macena Sobreira, Nara Lygia, Mello, Claudia Berlim, Oliveira, Allan Chiaratti, Burlin, Stênio, Soares, Maria de Fátima de Faria, Cernach, Mirlene Cecília Soares Pinho, Alvarez Perez, Ana Beatriz

Volltext

Duplication 9p and their implication to phenotype von Guilherme, Roberta Santos, Meloni, Vera Ayres, Perez, Ana Beatriz Alvarez, Pilla, Ana Luiza, de Ramos, Marco Antonio Paula, Dantas, Anelisa Gollo, Takeno, Sylvia Satomi, Kulikowski, Leslie Domenici, Melaragno, Maria Isabel

Volltext

Novel frameshift variant in gene SALL4 causing Okihiro syndrome von Alves, Leandro Ucela, Perez, Ana Beatriz Alvarez, Alonso, Luis Garcia, Otto, Paulo Alberto, Mingroni-Netto, Regina Célia

Volltext

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants von D'Angelo, Carla Sustek, Kohl, Ilana, Varela, Monica Castro, de Castro, Cláudia Irene Emílio, Kim, Chong Ae, Bertola, Débora Romeo, Lourenço, Charles Marques, Perez, Ana Beatriz Alvarez, Koiffmann, Celia Priszkulnik

Volltext

Terminal 18q deletions are stabilized by neotelomeres von Guilherme, Roberta Santos, Hermetz, Karen E, Varela, Patrícia Teixeira, Perez, Ana Beatriz Alvarez, Meloni, Vera Ayres, Rudd, M Katharine, Kulikowski, Leslie Domenici, Melaragno, Maria Isabel

Volltext

Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil von da Silva, Luciana Rodrigues Jacy, Vergani, Naja, Galdieri, Luciano de Camargo, Ribeiro Porto, Marianna Picarelli, Longhitano, Silvia Bragagnolo, Brunoni, Decio, D'Almeida, Vânia, Alvarez Perez, Ana Beatriz

Volltext

Spinal muscular atrophy due to a “de novo” 1.3 Mb deletion: Implication for genetic counseling von da Silva, Luciana Rodrigues Jacy, Colovati, Mileny Esbravatti Stephano, Coprerski, Bruno, de Andrade, Carlos Eugênio Fernandez, Zanoteli, Edmar, Raskin, Salmo, Oliveira, Mariana Moysés, Melaragno, Maria Isabel, Perez, Ana Beatriz Alvarez

Volltext

Marfan Database (third edition): New mutations and new routines for the software von Collod-Béroud, Gwenaëlle, Béroud, Christophe, Ades, Lesley, Black, Cheryl, Boxer, Maureen, Brock, David J. H., Holman, Katherine J., de Paepe, Anne, Francke, Uta, Grau, Ulrich, Hayward, Caroline, Klein, Hanns-Georg, Liu, Wanguo, Nuytinck, Lieve, Peltonen, Leena, Perez, Ana Beatriz Alvarez, Rantamäki, Terhi, Junien, Claudine, Boileau, Catherine

Volltext

Use of the Internet to report congenital malformations on birth certificates at four public maternity hospitals in the city of São Paulo, Brazil von De Nicola, Pablo Domingos Rodrigues, Cernach, Mirlene Cecília Soares Pinho, Perez, Ana Beatriz Alvarez, Brunoni, Decio

Volltext