Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency

Por Scalco, Renata C., Melo, Suzana S. J., Pugliese-Pires, Patricia N., Funari, Mariana F. A., Nishi, Mirian Y., Arnhold, Ivo J. P., Mendonca, Berenice B., Jorge, Alexander A. L.
Publicado em 2010

Two Patients with Severe Short Stature due to a FBN1 mutation (p.Ala1728Val) with a mild form of Acromicric Dysplasia

Por de Bruin, Christiaan, Finlayson, Courtney, Funari, Mariana F.A., Vasques, Gabriela A., Freire, Bruna Lucheze, Lerario, Antonio M., Andrew, Melissa, Hwa, Vivian, Dauber, Andrew, Jorge, Alexander A L
Publicado no Horm Res Paediatr (2016)

Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect

Por Scalco, Renata C., Gonçalves, Fernanda T., Santos, Hadassa C., Cardena, Mari M. S. G., Tonelli, Carlos A., Funari, Mariana F. A., Aracava, Rosana M., Pereira, Alexandre C., Fridman, Cintia, Jorge, Alexander A. L.
Publicado no Genet Mol Biol (2017)

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

Por Gkourogianni, Alexandra, Andrew, Melissa, Tyzinski, Leah, Crocker, Melissa, Douglas, Jessica, Dunbar, Nancy, Fairchild, Jan, Funari, Mariana F. A., Heath, Karen E., Jorge, Alexander A. L., Kurtzman, Tracey, LaFranchi, Stephen, Lalani, Seema, Lebl, Jan, Lin, Yuezhen, Los, Evan, Newbern, Dorothee, Nowak, Catherine, Olson, Micah, Popovic, Jadranka, Průhová, Štěpánka, Elblova, Lenka, Quintos, Jose Bernardo, Segerlund, Emma, Sentchordi, Lucia, Shinawi, Marwan, Stattin, Eva-Lena, Swartz, Jonathan, del Angel, Ariadna González, Cuéllar, Sinhué Diaz, Hosono, Hidekazu, Sanchez-Lara, Pedro A., Hwa, Vivian, Baron, Jeffrey, Nilsson, Ola, Dauber, Andrew
Publicado no J Clin Endocrinol Metab (2016)

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

Por Lessel, Davor, Gehbauer, Christina, Bramswig, Nuria C, Schluth-Bolard, Caroline, Venkataramanappa, Sathish, van Gassen, Koen L I, Hempel, Maja, Haack, Tobias B, Baresic, Anja, Genetti, Casie A, Funari, Mariana F A, Lessel, Ivana, Kuhlmann, Leonie, Simon, Ruth, Liu, Pentao, Denecke, Jonas, Kuechler, Alma, de Kruijff, Ineke, Shoukier, Moneef, Lek, Monkol, Mullen, Thomas, Lüdecke, Hermann-Josef, Lerario, Antonio M, Kobbe, Robin, Krieger, Thorsten, Demeer, Benedicte, Lebrun, Marine, Keren, Boris, Nava, Caroline, Buratti, Julien, Afenjar, Alexandra, Shinawi, Marwan, Guillen Sacoto, Maria J, Gauthier, Julie, Hamdan, Fadi F, Laberge, Anne-Marie, Campeau, Philippe M, Louie, Raymond J, Cathey, Sara S, Prinz, Immo, Jorge, Alexander A L, Terhal, Paulien A, Lenhard, Boris, Wieczorek, Dagmar, Strom, Tim M, Agrawal, Pankaj B, Britsch, Stefan, Tolosa, Eva, Kubisch, Christian
Publicado no Brain (2018)