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
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
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
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
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
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
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
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
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
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
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature
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
Published in Hormone research in paediatrics (01.01.2020)
Published in Hormone research in paediatrics (01.01.2020)
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Journal Article
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing
Homma, Thais Kataoka, Freire, Bruna Lucheze, Honjo Kawahira, Rachel Sayuri, Dauber, Andrew, Funari, Mariana Ferreira de Assis, Lerario, Antônio Marcondes, Nishi, Mirian Yumie, Albuquerque, Edoarda Vasco de, Vasques, Gabriela de Andrade, Collett-Solberg, Paulo Ferrez, Miura Sugayama, Sofia Mizuho, Bertola, Debora Romeo, Kim, Chong Ae, Arnhold, Ivo Jorge Prado, Malaquias, Alexsandra Christianne, Jorge, Alexander Augusto de Lima
Published in The Journal of pediatrics (01.12.2019)
Published in The Journal of pediatrics (01.12.2019)
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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
Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome
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
Published in Hormone research in paediatrics (01.01.2019)
Published in Hormone research in paediatrics (01.01.2019)
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Journal Article
Novel SUZ12 mutations in Weaver‐like syndrome
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
Published in Clinical genetics (01.11.2018)
Published in Clinical genetics (01.11.2018)
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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
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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Journal Article
Evaluation of the trabecular bone score in 35 children and adults with X-linked hypophosphatemic rickets
de Paula Colares Neto, Guido, Pereira, Rosa Maria Rodrigues, Alvarenga, Jackeline Couto, Takayama, Liliam, de Assis Funari, Mariana Ferreira, Martin, Regina Matsunaga
Published in Journal of bone and mineral metabolism (01.09.2023)
Published in Journal of bone and mineral metabolism (01.09.2023)
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Journal Article