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Funari, Mariana F. A.
136  results:
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1

Identification of a second genetic alteration in patients w..:

Dantas, Naiara C B ; Funari, Mariana F A ; Lerário, Antonio M...
European Journal of Endocrinology.  189 (2023)  3 - p. 387-395 , 2023
Link: https://doi.org/10.1093/..
 
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2

Evidence for a Founder Effect of SDHB Exon 1 Deletion in Br..:

Fagundes, Gustavo F C ; Freitas-Castro, Felipe ; Santana, Lucas S...
The Journal of Clinical Endocrinology & Metabolism.  108 (2023)  8 - p. 2105-2114 , 2023
Link: https://doi.org/10.1210/..
 
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3

Targeted massively parallel sequencing panel to diagnose ge..:

Narcizo, Amanda M. ; Cardoso, Lais C. ; Benedetti, Anna F.F....
Clinics.  77 (2022)  - p. 100132 , 2022
Link: https://doi.org/10.1016/..
 
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4

Noonan syndrome patients beyond the obvious phenotype: A po..:

Noronha, Renata M. ; Villares, Sandra M F ; Torres, Natalia...
American Journal of Medical Genetics Part A.  185 (2020)  3 - p. 774-780 , 2020
Link: https://doi.org/10.1002/..
 
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5

Screening of targeted panel genes in Brazilian patients wit..:

França, Monica M. ; Funari, Mariana F. A. ; Lerario, Antonio M....
PLOS ONE.  15 (2020)  10 - p. e0240795 , 2020
Link: https://doi.org/10.1371/..
 
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6

Clinical and Molecular Description of 16 Families With Hete..:

Sentchordi-Montané, Lucía ; Benito-Sanz, Sara ; Aza-Carmona, Miriam...
The Journal of Clinical Endocrinology & Metabolism.  105 (2020)  8 - p. 2654-2666 , 2020
Link: https://doi.org/10.1210/..
 
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7

Multigene Sequencing Analysis of Children Born Small for Ge..:

Freire, Bruna L ; Homma, Thais K ; Funari, Mariana F A...
The Journal of Clinical Endocrinology & Metabolism.  104 (2019)  6 - p. 2023-2030 , 2019
Link: https://doi.org/10.1210/..
 
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8

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause o..:

Franca, Monica M ; Han, Xingfa ; Funari, Mariana F A...
The Journal of Clinical Endocrinology & Metabolism.  104 (2019)  7 - p. 2827-2841 , 2019
Link: https://doi.org/10.1210/..
 
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9

Growth Hormone insensitivity (Laron syndrome): Report of a ..:

Villela, Thais R. ; Freire, Bruna L. ; Braga, Nathalia T. P....
Genetics and Molecular Biology.  42 (2019)  4 - p. , 2019
Link: https://doi.org/10.1590/..
 
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10

Two rare loss-of-function variants in the STAG3 gene leadin..:

França, Monica M. ; Nishi, Mirian Y. ; Funari, Mariana F.A....
European Journal of Medical Genetics.  62 (2019)  3 - p. 186-189 , 2019
Link: https://doi.org/10.1016/..
 
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11

Genetic diagnosis of congenital hypopituitarism by a target..:

Nakaguma, Marilena ; Correa, Fernanda A ; Santana, Lucas S...
Endocrine Connections.  8 (2019)  5 - p. 590-595 , 2019
Link: https://doi.org/10.1530/..
 
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12

Evaluation of SHOX defects in the era of next‐generation se..:

Funari, Mariana F.A. ; de Barros, Juliana S. ; Santana, Lucas S....
Clinical Genetics.  96 (2019)  3 - p. 261-265 , 2019
Link: https://doi.org/10.1111/..
 
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13

BCL11B mutations in patients affected by a neurodevelopment..:

Lessel, Davor ; Gehbauer, Christina ; Bramswig, Nuria C...
Brain.  141 (2018)  8 - p. 2299-2311 , 2018
Link: https://doi.org/10.1093/..
 
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14

Mutations in C-natriuretic peptide (NPPC): a novel cause of..:

Hisado-Oliva, Alfonso ; Ruzafa-Martin, Alba ; Sentchordi, Lucia...
Genetics in Medicine.  20 (2018)  1 - p. 91-97 , 2018
Link: https://doi.org/10.1038/..
 
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15

Pathogenic copy number variants in patients with congenital..:

Correa, Fernanda A. ; Jorge, Alexander AL ; Nakaguma, Marilena...
Clinical Endocrinology.  88 (2018)  3 - p. 425-431 , 2018
Link: https://doi.org/10.1111/..
 
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