SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review

por Copelli, Matheus de Mello, Pairet, Eleonore, Atique-Tacla, Milena, Vieira, Társis Paiva, Appenzeller, Simone, Helaers, Raphaël, Vikkula, Miikka, Gil-da-Silva-Lopes, Vera Lúcia
Publicado 2023

Rare 15q21.1q22.31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability

por Nascimento, Carolina Gama, Prota, Joana Rosa Marques, Sgardioli, Ilária Cristina, Spineli-Silva, Samira, Campos, Nilma Lúcia Viguetti, Gil-da-Silva-Lopes, Vera Lúcia, Vieira, Társis Paiva
Publicado 2023

Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investiga...

por Correia-Costa, Gabriela Roldão, Sgardioli, Ilária Cristina, dos Santos, Ana Paula, de Araujo, Tânia Kawasaki, Secolin, Rodrigo, Lopes-Cendes, Iscia, Gil-da-Silva-Lopes, Vera Lúcia, Vieira, Társis Paiva
Publicado 2022

Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review

por Correia-Costa, Gabriela Roldão, dos Santos, Ana Mondadori, de Leeuw, Nicole, Rigatto, Sumara Zuanazi Pinto, Belangero, Vera Maria Santoro, Steiner, Carlos Eduardo, Gil-da-Silva-Lopes, Vera Lúcia, Vieira, Társis Paiva
Publicado 2022

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study

por Riccetto, Luísa, Vieira, Tarsis Paiva, Viguetti-Campos, Nilma Lucia, Mazzola, Tais Nitsch, Guaragna, Mara Sanches, Fabbri-Scallet, Helena, de Mello, Maricilda Palandi, Marques-de-Faria, Antonia Paula, Maciel-Guerra, Andrea Trevas, Guerra, Gil
Publicado 2022