Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature
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
Published in The journal of clinical endocrinology and metabolism (01.10.2013)
Published in The journal of clinical endocrinology and metabolism (01.10.2013)
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Journal Article
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency
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
Published in PloS one (23.10.2020)
Published in PloS one (23.10.2020)
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Journal Article
Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency
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
Published in The journal of clinical endocrinology and metabolism (01.07.2019)
Published in The journal of clinical endocrinology and metabolism (01.07.2019)
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Journal Article
Evaluation of SHOX defects in the era of next‐generation sequencing
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.
Published in Clinical genetics (01.09.2019)
Published in Clinical genetics (01.09.2019)
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Journal Article
Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients
Villela, Thais R, Freire, Bruna L, Braga, Nathalia T P, Arantes, Rodrigo R, Funari, Mariana F A, Alexander, Jorge A L, Silva, Ivani N
Published in Genetics and molecular biology (01.01.2019)
Published in Genetics and molecular biology (01.01.2019)
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Journal Article
Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2
Vasques, Gabriela A., Hisado-Oliva, Alfonso, Funari, Mariana F.A., Lerario, Antonio M., Quedas, Elisangela P.S., Solberg, Paulo, Heath, Karen E., Jorge, Alexander A.L.
Published in Journal of Pediatric Endocrinology & Metabolism (01.01.2017)
Published in Journal of Pediatric Endocrinology & Metabolism (01.01.2017)
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Journal Article
Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency
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
Published in The journal of clinical endocrinology and metabolism (01.01.2010)
Published in The journal of clinical endocrinology and metabolism (01.01.2010)
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Journal Article
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
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
Published in Endocrine Connections (01.05.2019)
Published in Endocrine Connections (01.05.2019)
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Journal Article
Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect
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
Published in Genetics and molecular biology (01.04.2017)
Published in Genetics and molecular biology (01.04.2017)
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Journal Article
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature
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
Published in The journal of clinical endocrinology and metabolism (01.06.2019)
Published in The journal of clinical endocrinology and metabolism (01.06.2019)
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Journal Article
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
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
Published in Brain (London, England : 1878) (01.08.2018)
Published in Brain (London, England : 1878) (01.08.2018)
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Journal Article
Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations
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
Published in The journal of clinical endocrinology and metabolism (01.02.2017)
Published in The journal of clinical endocrinology and metabolism (01.02.2017)
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Journal Article
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy
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
Published in The journal of clinical endocrinology and metabolism (01.02.2018)
Published in The journal of clinical endocrinology and metabolism (01.02.2018)
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Journal Article
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature
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.
Published in Genetics in medicine (01.01.2018)
Published in Genetics in medicine (01.01.2018)
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Journal Article
Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients With Paraganglioma
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
Published in The journal of clinical endocrinology and metabolism (01.08.2023)
Published in The journal of clinical endocrinology and metabolism (01.08.2023)
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Journal Article
Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability
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
Published in European journal of endocrinology (01.09.2023)
Published in European journal of endocrinology (01.09.2023)
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Journal Article
Adult height of patients with SHOX haploinsufficiency with or without GH therapy: A Real-World Single-Center Study
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
Published in Hormone research in paediatrics (01.08.2022)
Published in Hormone research in paediatrics (01.08.2022)
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Journal Article
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
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
Published in The journal of clinical endocrinology and metabolism (01.08.2020)
Published in The journal of clinical endocrinology and metabolism (01.08.2020)
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Journal Article
Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency
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.
Published in European journal of medical genetics (01.03.2019)
Published in European journal of medical genetics (01.03.2019)
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Journal Article
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile
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
Published in American journal of medical genetics. Part A (01.03.2021)
Published in American journal of medical genetics. Part A (01.03.2021)
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