Mariana F.A. Funari

Heterozygous Mutations in Natriuretic Peptide Receptor-B (<i>NPR2</i>) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature

Gabriela A. Vasques, Naoko Amano, Ana Docko et al. · The Journal of Clinical Endocrinology & Metabolism · 2013 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

Alexandra Gkourogianni, Melissa Andrew, Leah Tyzinski et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 135 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Davor Lessel, Christina Gehbauer, Nuria C. Bramswig et al. · Brain · 2018 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature

Bruna Lucheze Freire, Thaís Kataoka Homma, Mariana F.A. Funari et al. · The Journal of Clinical Endocrinology & Metabolism · 2019 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

Gabriela A. Vasques, Mariana F.A. Funari, Frederico Moraes Ferreira et al. · The Journal of Clinical Endocrinology & Metabolism · 2017 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17