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
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause
Homma, Thais K, Krepischi, Ana C V, Furuya, Tatiane K, Honjo, Rachel S, Malaquias, Alexsandra C, Bertola, Debora R, Costa, Silvia S, Canton, Ana P, Roela, Rosimeire A, Freire, Bruna L, Kim, Chong A, Rosenberg, Carla, Jorge, Alexander A L
Published in Hormone research in paediatrics (01.01.2018)
Published in Hormone research in paediatrics (01.01.2018)
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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
ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome
Scalco, Renata C, Trarbach, Ericka B, Albuquerque, Edoarda V A, Homma, Thais K, Inoue-Lima, Thais H, Nishi, Mirian Y, Mendonca, Berenice B, Jorge, Alexander A L
Published in Endocrine Connections (01.11.2019)
Published in Endocrine Connections (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
A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder
Magrino, Joseph, Munford, Veridiana, Martins, Davi Jardim, Homma, Thais K., Page, Brendan, Gaubitz, Christl, Freire, Bruna L., Lerario, Antonio M., Vilar, Juliana Brandstetter, Amorin, Antonio, Leão, Emília K.E., Kok, Fernando, Menck, Carlos FM, Jorge, Alexander AL, Kelch, Brian A.
Published in The Journal of biological chemistry (01.05.2023)
Published in The Journal of biological chemistry (01.05.2023)
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Journal Article
Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients
Freire, Bruna L., Homma, Thais K., Funari, Mariana F.A., Lerario, Antônio M., Leal, Aline M., Velloso, Elvira D.R.P., Malaquias, Alexsandra C., Jorge, Alexander A.L.
Published in European journal of medical genetics (01.03.2018)
Published in European journal of medical genetics (01.03.2018)
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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
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