Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency von França, 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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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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Novel SUZ12 mutations in Weaver‐like syndrome von Imagawa, Eri, Albuquerque, Edoarda V.A., Isidor, Bertrand, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Miyatake, Satoko, Takata, Atsushi, Miyake, Noriko, Boguszewski, Margaret C.S., Boguszewski, César L., Lerario, Antonio M., Funari, Mariana A., Jorge, Alexander A.L., Matsumoto, Naomichi

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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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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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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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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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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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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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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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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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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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Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability von Dantas, Naiara C B, Funari, Mariana F A, Lerário, Antonio M, Andrade, Nathalia L M, Rezende, Raíssa C, Cellin, Laurana P, Alves, Crésio, Crisostomo, Lindiane G, Arnhold, Ivo J P, Mendonca, Berenice, Scalco, Renata C, Jorge, Alexander A L

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Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants von Sentchordi-Montané, Lucía, Benito-Sanz, Sara, Aza-Carmona, Miriam, Pereda, Arrate, Parrón-Pajares, Manuel, de la Torre, Carolina, Vasques, Gabriela A, Funari, Mariana F A, Travessa, André M, Dias, Patrícia, Suarez-Ortega, Larisa, González-Buitrago, Jesús, Portillo-Najera, Nancy Elizabeth, Llano-Rivas, Isabel, Martín-Frías, María, Ramírez-Fernández, Joaquín, Sánchez Del Pozo, Jaime, Garzón-Lorenzo, Lucía, Martos-Moreno, Gabriel A, Alfaro-Iznaola, Cristina, Mulero-Collantes, Inés, Ruiz-Ocaña, Pablo, Casano-Sancho, Paula, Portela, Ana, Ruiz-Pérez, Lorea, Del Pozo, Angela, Vallespín, Elena, Solís, Mario, Lerario, Antônio M, González-Casado, Isabel, Ros-Pérez, Purificación, Pérez 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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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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