E-LIB Suche - Ergebnisse für: Benedetti, Anna Flavia F.

1

SDHB large deletions are associated with absence of MIBG up..:

Petenuci, Janaina ; Fagundes, Gustavo F. C. ; Benedetti, Anna Flavia F....
Endocrine. 72 (2021) 2 - p. 586-590 , 2021

2

Genetic and clinical aspects of paediatric pheochromocytoma..:

Petenuci, Janaina ; Guimaraes, Augusto G. ; Fagundes, Gustavo F.C....
Clinical Endocrinology. 95 (2021) 1 - p. 117-124 , 2021

Link: https://doi.org/10.1111/..

3

MON-202 Germline SDHB Exon 1 Deletion Is Associated with Ab..:

Almeida, Madson Q ; Fragoso, Maria Candida B V ; Mendonca, Berenice Bilharinho...
Journal of the Endocrine Society. 4 (2020) Supplement_1 - p. , 2020

Link: https://doi.org/10.1210/..

4

MON-202 Germline SDHB Exon 1 Deletion Is Associated with Ab..:

Petenuci, Janaina ; Fagundes, Gustavo Freitas Cardoso ; Motta, Flavia Tedesco...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207609/. , 2020

Link: http://www.ncbi.nlm.nih...

5

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/..

6

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/..

7

Hydropathic AF‐2 variants in the androgen receptor gene amo..:

Giuliatti, Silvana ; Benedetti, Anna Flavia Figueredo ; Ramos, Raquel Martinez...
Andrology. , 2024

Link: https://doi.org/10.1111/..

8

Homozygous CDH2 variant may be associated with hypopituitar..:

Ferreira, Nathalia G B P ; Madeira, Joao L O ; Gergics, Peter...
Endocrine Connections. 12 (2023) 8 - p. , 2023

Link: https://doi.org/10.1530/..

9

Contribution of Clinical and Genetic Approaches for Diagnos..:

Gomes, Nathalia Lisboa ; Batista, Rafael Loch ; Nishi, Mirian Y...
The Journal of Clinical Endocrinology & Metabolism. 107 (2022) 5 - p. e1797-e1806 , 2022

Link: https://doi.org/10.1210/..

10

Cushing disease due to a somatic USP8 mutation in a patient..:

Labello, Julia Haddad ; Benedetti, Anna Flávia Figueredo ; Azevedo, Bruna Viscardi...
Archives of Endocrinology and Metabolism. , 2022

Link: https://doi.org/10.20945..

11

Allelic Variants in Established Hypopituitarism Genes Expan..:

Nakaguma, Marilena ; Ferreira, Nathalia Garcia Bianchi Pereira ; Benedetti, Anna Flavia Figueredo...
Genes. 12 (2021) 8 - p. 1128 , 2021

Link: https://doi.org/10.3390/..

12

OR27-01 Combining Clinical and Genetic Approaches in Diagno..:

Mendonca, Berenice Bilharinho ; Domenice, Sorahia ; Costa, Elaine Maria Frade...
Journal of the Endocrine Society. 4 (2020) Supplement_1 - p. , 2020

Link: https://doi.org/10.1210/..

13

SUN-710 Custom Panel to Diagnosis Genetic Endocrine Disorde..:

Mendonca, Berenice Bilharinho ; Nishi, Mirian Yumie ; Funari, Mariana Ferreira de Assis...
Journal of the Endocrine Society. 4 (2020) Supplement_1 - p. , 2020

Link: https://doi.org/10.1210/..

14

SAT-LB58 Molecular Investigation of Recessive Inheritance b..:

Carvalho, Luciani Renata Silveira ; Arnhold, Ivo J ; Mendonca, Berenice Bilharinho...
Journal of the Endocrine Society. 4 (2020) Supplement_1 - p. , 2020

Link: https://doi.org/10.1210/..

15

SELAdb: A database of exonic variants in a Brazilian popula..:

Lerario, Antonio Marcondes ; Mohan, Dipika R. ; Montenegro, Luciana Ribeiro...
Clinics. 75 (2020) - p. e1913 , 2020

Link: https://doi.org/10.6061/..