Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing von Soares de Lima, Yasmin, Chiabai, Marcela, Shen, Jun, Córdoba, Mara S., Versiani, Beatriz R., Benício, Rosenelle O.A., Pogue, Robert, Mingroni-Netto, Regina Célia, Lezirovitz, Karina, Pic-Taylor, Aline, Mazzeu, Juliana F., Oliveira, Silviene F.

Volltext

Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions von Hanna, Marcela D., Moretti, Patricia N., P. de Oliveira, Claudiner, A. Rosa, Maria T., R. Versiani, Beatriz, de Oliveira, Silviene F., Pic-Taylor, Aline, F. Mazzeu, Juliana

Volltext

Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of  KAL1 defects in patients with Kallmann syndrome von Montenegro, Luciana Ribeiro, Ph.D, Silveira, Leticia F.G., Ph.D, Tusset, Cintia, Ph.D, de Castro, Margaret, M.D., Ph.D, Versiani, Beatriz R., M.D., Ph.D, Latronico, Ana Claudia, M.D., Ph.D, Mendonca, Berenice Bilharinho, M.D., Ph.D, Trarbach, Ericka B., Ph.D

Volltext

Partial 1q Duplications and Associated Phenotype von Morris, Marcos L.M., Baroneza, José E., Teixeira, Patricia, Medina, Cristina T.N., Cordoba, Mara S., Versiani, Beatriz R., Roese, Liege L., Freitas, Erika L., Fonseca, Ana C.S., dos Santos, Maria C.G., Pic-Taylor, Aline, Rosenberg, Carla, Oliveira, Silviene F., Ferrari, Iris, Mazzeu, Juliana F.

Volltext

Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4 von Moretti, Patricia N., Figueiredo, Ana Carolina V., Saliba, Aline, Versiani, Beatriz R., Oliveira, Silviene F., Pic‐Taylor, Aline, Mazzeu, Juliana F.

Volltext

Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review von de Souza, Vanessa Sodré, da Cunha, Gabriela Corassa Rodrigues, Versiani, Beatriz R., de Oliveira, Claudiner Pereira, Rosa, Maria Teresa Alves Silva, de Oliveira, Silviene F., Moretti, Patricia N., Mazzeu, Juliana F., Pic-Taylor, Aline

Volltext

Quantitative Magnetic Resonance Imaging Evaluation of the Olfactory System in Kallmann Syndrome: Correlation with a Clinical Smell Test von Koenigkam-Santos, Marcel, Santos, Antonio Carlos, Versiani, Beatriz R., Diniz, Paula Rejane B., Junior, Jorge Elias, de Castro, Margaret

Volltext

Kallmann syndrome and mirror movements: White matter quantitative evaluation with magnetic resonance imaging von Koenigkam-Santos, Marcel, de Castro, Margaret, Versiani, Beatriz R, Diniz, Paula Rejane B, Santos, Antonio Carlos

Volltext

Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism von Versiani, Beatriz R., Trarbach, Ericka, Koenigkam-Santos, Marcel, Dos Santos, Antonio Carlos, Elias, Lucila L. K., Moreira, Ayrton C., Latronico, Ana Claudia, De Castro, Margaret

Volltext

Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes von Versiani, Beatriz Ribeiro, Gilbert-Barness, Enid, Giuliani, Liane Rosso, Peres, Luiz Cesar, Pina-Neto, João Monteiro

Volltext