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Funari, Mariana F A
136
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Online (136)
Mediatypes
Articles (Online) (117)
Bookchapter (Online) (2)
OpenAccess-fulltext (17)
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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/..
?
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/..
?
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/..
?
4
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/..
?
5
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/..
?
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/..
?
7
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/..
?
8
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/..
?
9
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/..
?
10
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/..
?
11
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/..
?
12
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/..
?
13
Homozygous loss of function BRCA1 variant causing a Fanconi..:
Freire, Bruna L.
;
Homma, Thais K.
;
Funari, Mariana F.A.
...
European Journal of Medical Genetics. 61 (2018) 3 - p. 130-133 , 2018
Link:
https://doi.org/10.1016/..
?
14
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/..
?
15
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/..
1-15