Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening
Martins, Jéssica Mallmann Erbes Schaefer, Braga, Barbara Leitao, Sampaio, Klevia Nunes Feitosa, de Souza Garcia, Tamires, Van de Sande Lee, Juliana, Cechinel, Edson, Simoni, Genoir, Nascimento, Marilza Leal, da Silva, Paulo Cesar Alves, Fragoso, Maria C V, Bachega, Tania A A S, Nishi, Mirian Y, Mendonca, Berenice B
Published in Archives of Endocrinology and Metabolism (29.02.2024)
Published in Archives of Endocrinology and Metabolism (29.02.2024)
Get full text
Journal Article
Impact of the reduction in TSH cutoff level to 6 mIU/L in neonatal screening for congenital hypothyroidism in Santa Catarina: final results
Nascimento, Marilza Leal, Nascimento, Andre Leal, Dornbusch, Patricia, Ohira, Masanao, Simoni, Genoir, Cechinel, Edson, Linhares, Rose Marie Mueller, van De Sande Lee, Juliana, Silva, Paulo Cesar Alves
Published in Archives of Endocrinology and Metabolism (01.11.2021)
Published in Archives of Endocrinology and Metabolism (01.11.2021)
Get full text
Journal Article
A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings
Pugliese-Pires, Patricia N, Tonelli, Carlos A, Dora, Jose M, Silva, Paulo C A, Czepielewski, Mauro, Simoni, Genoir, Arnhold, Ivo J P, Jorge, Alexander A L
Published in European journal of endocrinology (01.08.2010)
Published in European journal of endocrinology (01.08.2010)
Get full text
Journal Article
Predictors of Quality of Life of Children and Adolescents with Osteogenesis Imperfecta
Juliana van de Sande, Lee, Genoir, Simoni, Ana Paula, Vanz, Têmis Maria, Félix, João Carlos, Xikota, Sílvia Modesto, Nassar, Maria Luiza Cimardi, Rupp, Maria Marlene de Souza, Pires
Published in International Journal of Rare Diseases & Disorders (22.04.2022)
Published in International Journal of Rare Diseases & Disorders (22.04.2022)
Get full text
Journal Article
Ten-year evaluation of a Neonatal Screening Program for congenital adrenal hyperplasia
Nascimento, Marilza Leal, Cristiano, Anísia Nhelety Baptista, Campos, Tatiane de, Ohira, Masanao, Cechinel, Edson, Simoni, Genoir, Lee, Juliana van de Sande, Linhares, Rose Marie Muller, Silva, Paulo Cesar Alves da
Published in Arquivos brasileiros de endocrinologia e metabologia (01.10.2014)
Published in Arquivos brasileiros de endocrinologia e metabologia (01.10.2014)
Get full text
Journal Article
Programa de Triagem Neonatal para hipotireoidismo congênito de Santa Catarina, Brasil: avaliação etiológica no primeiro atendimento
Nascimento, Marilza Leal, Rabello, Fernanda Hostim, Ohira, Masanao, Simoni, Genoir, Cechinel, Edson, Linhares, Rose Marie Muller, Silva, Paulo César Alves da
Published in Arquivos brasileiros de endocrinologia e metabologia (01.12.2012)
Published in Arquivos brasileiros de endocrinologia e metabologia (01.12.2012)
Get full text
Journal Article
Newborn Screening Program for congenital hypothyroidism of the State of Santa Catarina, Brazil: etiological investigation in the first visit
Nascimento, Marilza Leal, Rabello, Fernanda Hostim, Ohira, Masanao, Simoni, Genoir, Cechinel, Edson, Linhares, Rose Marie Muller, Silva, Paulo César Alves da
Published in Arquivos brasileiros de endocrinologia e metabologia (01.12.2012)
Published in Arquivos brasileiros de endocrinologia e metabologia (01.12.2012)
Get full text
Journal Article
Congenital hypothyroidism screening program: preliminary results
Nascimento, M L, Silva, P C, Simoni, G, Lobo, G S, Souza, C D
Published in Jornal de pediatria (01.05.1997)
Published in Jornal de pediatria (01.05.1997)
Get more information
Journal Article
Programa de Triagem Neonatal para hipotireoidismo congênito de Santa Catarina, Brasil: avaliação etiológica no primeiro atendimento
Nascimento, Marilza Leal, Rabello, Fernanda Hostim, Ohira, Masanao, Simoni, Genoir, Cechinel, Edson, Linhares, Rose Marie Muller, Silva, Paulo César Alves da
Published in Arquivos brasileiros de endocrinologia e metabologia (01.12.2012)
Published in Arquivos brasileiros de endocrinologia e metabologia (01.12.2012)
Get full text
Journal Article