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
Genetic causes of isolated short stature
Vasques, Gabriela A, Andrade, Nathalia L M, Jorge, Alexander A L
Published in Archives of Endocrinology and Metabolism (01.02.2019)
Published in Archives of Endocrinology and Metabolism (01.02.2019)
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Journal Article
Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders
Vasques, Gabriela A., Arnhold, Ivo J.P., Jorge, Alexander A.L.
Published in Hormone research in paediatrics (01.01.2014)
Published in Hormone research in paediatrics (01.01.2014)
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Journal Article
IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children
Inoue-Lima, Thais H., Vasques, Gabriela A., Scalco, Renata C., Nakaguma, Marilena, Mendonca, Berenice B., Arnhold, Ivo J.P., Jorge, Alexander A.L.
Published in Journal of Pediatric Endocrinology & Metabolism (25.02.2019)
Published in Journal of Pediatric Endocrinology & Metabolism (25.02.2019)
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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
Update on new GH-IGF axis genetic defects
Vasques, Gabriela A, Andrade, Nathalia L M, Correa, Fernanda A, Jorge, Alexander A L
Published in Archives of Endocrinology and Metabolism (01.11.2019)
Published in Archives of Endocrinology and Metabolism (01.11.2019)
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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
Response to Letter to the Editor: “IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy”
Vasques, Gabriela A, Jorge, Alexander A L
Published in The journal of clinical endocrinology and metabolism (01.11.2019)
Published in The journal of clinical endocrinology and metabolism (01.11.2019)
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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
Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis
Hisado-Oliva, Alfonso, Garre-Vázquez, Ana I, Santaolalla-Caballero, Fabiola, Belinchón, Alberta, Barreda-Bonis, Ana C, Vasques, Gabriela A, Ramirez, Joaquin, Luzuriaga, Cristina, Carlone, Gianni, González-Casado, Isabel, Benito-Sanz, Sara, Jorge, Alexander A, Campos-Barros, Angel, Heath, Karen E
Published in The journal of clinical endocrinology and metabolism (01.08.2015)
Published in The journal of clinical endocrinology and metabolism (01.08.2015)
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Journal Article
Clinical Characteristics of Children with THRA Mutations: Variable Phenotype and Good Response to Recombinant Human Growth Hormone Therapy
Andrade, Nathalia L M, Rezende, Raissa C, Crisostomo, Lindiane G, Dantas, Naiara C B, Cellin, Laurana P, de Souza, Vinicius, Quedas, Elisangela P S, Lerario, Antonio M, Vasques, Gabriela A, Jorge, Alexander A L
Published in Hormone research in paediatrics (14.05.2024)
Published in Hormone research in paediatrics (14.05.2024)
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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
Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly
França, Marcela M, Jorge, Alexander A. L, Carvalho, Luciani R. S, Costalonga, Everlayny F, Vasques, Gabriela A, Leite, Claudia C, Mendonca, Berenice B, Arnhold, Ivo J. P
Published in The journal of clinical endocrinology and metabolism (01.11.2010)
Published in The journal of clinical endocrinology and metabolism (01.11.2010)
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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
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia
de Bruin, Christiaan, Finlayson, Courtney, Funari, Mariana F A, Vasques, Gabriela A, Lucheze Freire, Bruna, Lerario, Antonio M, Andrew, Melissa, Hwa, Vivian, Dauber, Andrew, Jorge, Alexander A L
Published in Hormone research in paediatrics (01.01.2016)
Published in Hormone research in paediatrics (01.01.2016)
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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
Multigene Sequencing AnalysisofChildrenBornSmall for Gestational Age With Isolated Short Stature
Freire, Bruna L, Homma, Thais K, Funari, Mariana F. A, Lerario, Antonio 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
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