Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature von Vasques, Gabriela A, Amano, Naoko, Docko, Ana J, Funari, Mariana F. A, Quedas, Elisangela P. S, Nishi, Mirian Y, Arnhold, Ivo J. P, Hasegawa, Tomonobu, Jorge, Alexander A. L

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Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency von Franca, Monica M., Funari, Mariana F. A., Lerario, Antonio M., Santos, Mariza G., Nishi, Mirian Y., Domenice, Sorahia, Moraes, Daniela R., Costalonga, Everlayny F., Maciel, Gustavo A. R., Maciel-Guerra, Andrea T., Guerra-Junior, Gil, Mendonca, Berenice B.

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Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency von Franca, Monica M, Han, Xingfa, Funari, Mariana F A, Lerario, Antonio M, Nishi, Mirian Y, Fontenele, Eveline G P, Domenice, Sorahia, Jorge, Alexander A L, Garcia-Galiano, David, Elias, Carol F, Mendonca, Berenice B

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Evaluation of SHOX defects in the era of next‐generation sequencing von Funari, Mariana F.A., Barros, Juliana S., Santana, Lucas S., Lerario, Antonio M., Freire, Bruna L., Homma, Thais K., Vasques, Gabriela A., Mendonca, Berenice B., Nishi, Mirian Y., Jorge, Alexander A.L.

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Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature von Freire, Bruna L, Homma, Thais K, Funari, Mariana F A, Lerario, Antônio M, Vasques, Gabriela A, Malaquias, Alexsandra C, Arnhold, Ivo J P, Jorge, Alexander A L

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Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients von Villela, Thais R, Freire, Bruna L, Braga, Nathalia T P, Arantes, Rodrigo R, Funari, Mariana F A, Alexander, Jorge A L, Silva, Ivani N

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

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

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Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR von Nakaguma, Marilena, Correa, Fernanda A, Santana, Lucas S, Benedetti, Anna F F, Perez, Ricardo V, Huayllas, Martha K P, Miras, Mirta B, Funari, Mariana F A, Lerario, Antonio M, Mendonca, Berenice B, Carvalho, Luciani R S, Jorge, Alexander A L, Arnhold, Ivo J P

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Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations von 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, Ariadna, González-del Angel, Sinhué, Díaz-Cuéllar, Hosono, Hidekazu, Sanchez-Lara, Pedro A, Hwa, Vivian, Baron, Jeffrey, Nilsson, Ola, Dauber, Andrew

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Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature von Hisado-Oliva, Alfonso, Ruzafa-Martin, Alba, Sentchordi, Lucia, Funari, Mariana F.A., Bezanilla-López, Carolina, Alonso-Bernáldez, Marta, Barraza-García, Jimena, Rodriguez-Zabala, Maria, Lerario, Antonio M., Benito-Sanz, Sara, Aza-Carmona, Miriam, Campos-Barros, Angel, Jorge, Alexander A.L., Heath, Karen E.

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IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy von Vasques, Gabriela A, Funari, Mariana F A, Ferreira, Frederico M, Aza-Carmona, Miriam, Sentchordi-Montané, Lucia, Barraza-García, Jimena, Lerario, Antonio M, Yamamoto, Guilherme L, Naslavsky, Michel S, Duarte, Yeda A O, Bertola, Debora R, Heath, Karen E, Jorge, Alexander A L

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

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Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma von Fagundes, Gustavo F C, Freitas-Castro, Felipe, Santana, Lucas S, Afonso, Ana Caroline F, Petenuci, Janaina, Funari, Mariana F A, Guimaraes, Augusto G, Ledesma, Felipe L, Pereira, Maria Adelaide A, Victor, Carolina R, Ferrari, Marcela S M, Coelho, Fernando M A, Srougi, Victor, Tanno, Fabio Y, Chambo, Jose L, Latronico, Ana Claudia, Mendonca, Berenice B, Fragoso, Maria Candida B V, Hoff, Ana O, Almeida, Madson Q

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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants von Sentchordi-Montane, Lucia, Benito-Sanz, Sara, Aza-Carmona, Miriam, Pereda, Arrate, Parron-Pajares, Manuel, de la Torre, Carolina, Vasques, Gabriela A., Funari, Mariana F. A., Travessa, Andre M., Dias, Patricia, Suarez-Ortega, Larisa, Gonzalez-Buitrago, Jesus, Elizabeth Portillo-Najera, Nancy, Llano-Rivas, Isabel, Martin-Frias, Maria, Ramirez-Fernandez, Joaquin, del Pozo, Jaime Sanchez, Garzon-Lorenzo, Lucia, Martos-Moreno, Gabriel A., Alfaro-Iznaola, Cristina, Mulero-Collantes, Ines, Ruiz-Ocana, Pablo, Casano-Sancho, Paula, Portela, Ana, Ruiz-Perez, Lorea, del Pozo, Angela, Vallespin, Elena, Solis, Mario, Lerario, Antonio M., Gonzalez-Casado, Isabel, Ros-Perez, Purificacion, Perez de Nanclares, Guiomar, Jorge, Alexander A. L., Heath, Karen E.

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Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study von Dantas, Naiara C.B., Funari, Mariana F.A., Vasques, Gabriela A., Andrade, Nathalia L.M., Rezende, Raíssa C., Brito, Vinicius, Scalco, Renata C., Arnhold, Ivo J.P., Mendonca, Berenice B., Jorge, Alexander A.L.

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Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature von Homma, Thais K., Freire, Bruna L., Honjo, Rachel, Dauber, Andrew, Funari, Mariana F.A., Lerario, Antonio M., Albuquerque, Edoarda V.A., Vasques, Gabriela A., Bertola, Debora R., Kim, Chong A., Malaquias, Alexsandra C., Jorge, Alexander A.L.

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Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile von Noronha, Renata M., Villares, Sandra M F, Torres, Natalia, Quedas, Elisangela P S, Homma, Thais Kataoka, Albuquerque, Edoarda V A, Moraes, Michelle B, Funari, Mariana F A, Bertola, Debora R, Jorge, Alexander A L, Malaquias, Alexsandra C

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Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency von França, Monica M., Nishi, Mirian Y., Funari, Mariana F.A., Lerario, Antonio M., Baracat, Edmund C., Hayashida, Sylvia A.Y., Maciel, Gustavo A.R., Jorge, Alexander A.L., Mendonca, Berenice B.

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Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome von Malaquias, Alexsandra C., Noronha, Renata M., Souza, Thaiana T.O., Homma, Thais K., Funari, Mariana F.A., Yamamoto, Guilherme L., Silva, Fernanda Viana, Moraes, Michelle B., Honjo, Rachel S., Kim, Chong A., Nesi-França, Suzana, Carvalho, Julienne A.R., Quedas, Elisangela P.S., Bertola, Debora R., Jorge, Alexander A.L.

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