Publications by authors named "Anna Albuquerque"

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Porous perspectives: a comprehensive review of medullary sponge kidney.
Bárbara Almeida Camolese, Gustavo Santos Rainato, Isadora Soares Bicalho Garcia, Naira Kelly Ribeiro de Almeida, Stella Cardoso Galante, Anna Luiza Braga Albuquerque

Int Urol Nephrol· October 2025

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Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta-Analysis.
Anna Luiza Braga Albuquerque, Giovanna Giovacchini Dos Santos, Sara Hadj Sadok, Breno Bopp Antonello, Lorena Melo de Jesus

Am J Med Genet A· October 2025

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Efficacy and Safety of Olipudase Alfa for the Treatment of Acid Sphingomyelinase Deficiency (ASMD): A Systematic Review and Meta-Analysis.
Breno Bopp Antonello, Giovanna Giovacchini, Anna Luiza Braga Albuquerque, Cainã Gonçalves Rodrigues, Laura Grespan Dill

Am J Med Genet A· September 2025

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Genetics and phenotypes of mutations in inherited retinal degeneration: A study from a tertiary eye care center in Brazil.
Sarah Pereira de Freitas Cenachi, Maria Frasson, Virgínia Mares, Rodrigo Rezende Arantes, Anna Luiza Braga Albuquerque

Mol Vis· May 2025

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When the wild things are: Defining mammalian diel activity and plasticity.
Kadambari Devarajan, Mason Fidino, Zach J Farris, Solny A Adalsteinsson, Gabriel Andrade-Ponce, Anna Carolina Figueiredo de Albuquerque

Sci Adv· February 2025

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A Novel Mutation in a Family With Multiple Endocrine Neoplasia Type 1 and Aggressive Pancreatic Neuroendocrine Tumors.
Talita Fischer Oliveira, Humberto Batista Ferreira, Luís Henrique Dias Lima, Anna Luiza Braga Albuquerque, Juliana Beaudette Drummond

AACE Clin Case Rep· January 2025

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From Nonfunctioning Adrenocortical Cancer to Biochemically Silent Paraganglioma Associated with Mutation: An Uncommon Presentation of a Patient with a Retroperitoneal Mass.
Izabella Freitas, Anna Albuquerque, Luiz de Marco, Eduardo, José Renan Melo

Case Rep Endocrinol· August 2024

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Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.
Sebastião Cronemberger, Anna L B Albuquerque, Ana Cristina Simões E Silva, Jovita Lane Soares Santos Zanini, Alexandre Higino Gonçalves da Silva

Acta Paediatr· June 2024

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Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous variant associated with a heterozygous variant.
Felipe L Lima, Sebastião Cronemberger, Anna L B Albuquerque, Luciana F Barbosa, Francine R Cunha

Ophthalmic Genet· August 2023

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Inherited Fanconi syndrome.
Anna Luiza Braga Albuquerque, Rafael Dos Santos Borges, Ana Flávia Conegundes, Erika Emmylaine Dos Santos, Frederico Moreira Man Fu

World J Pediatr· July 2023

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Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome.
Pedro Guimarães de Azevedo, Maria de Lourdes Rabelo Guimarães, Anna Luiza Braga Albuquerque, Rayane Benfica Alves, Bianca Gomes Fernandes

Front Genet· May 2023

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NEOTROPICAL ALIEN MAMMALS: a data set of occurrence and abundance of alien mammals in the Neotropics.
Clarissa Alves da Rosa, Bruno R Ribeiro, Vanesa Bejarano, Fernando Henrique Puertas, Adriana Bocchiglieri, Anna Carolina Figueiredo de Albuquerque, Natasha Moraes de Albuquerque

Ecology· November 2020

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NEOTROPICAL CARNIVORES: a data set on carnivore distribution in the Neotropics.
Mariana Nagy-Reis, Júlia Emi de Faria Oshima, Claudia Zukeran Kanda, Francesca Belem Lopes Palmeira, Fabiano Rodrigues de Melo, Anna Carolina Figueiredo de Albuquerque, Bruno Rodrigo de Albuquerque França, Natasha Moraes de Albuquerque, Rodrigo Affonso de Albuquerque Nobrega

Ecology· November 2020

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NEOTROPICAL XENARTHRANS: a data set of occurrence of xenarthran species in the Neotropics.
Paloma Marques Santos, Adriana Bocchiglieri, Adriano Garcia Chiarello, Adriano Pereira Paglia, Adryelle Moreira, Anna Carolina Figueiredo de Albuquerque, Bruno Rodrigo de Albuquerque França, Natasha Moraes De Albuquerque

Ecology· July 2019

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ATLANTIC-CAMTRAPS: a dataset of medium and large terrestrial mammal communities in the Atlantic Forest of South America.
Fernando Lima, Gabrielle Beca, Renata L Muylaert, Clinton N Jenkins, Miriam L L Perilli, Anna Carolina F De Albuquerque

Ecology· November 2017

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Interactions between virus-related factors and post-transplant ascites in patients with hepatitis C and no cirrhosis: role of cryoglobulinemia.
Simona Tripon, Claire Francoz, Anna Albuquerque, Valérie Paradis, Hamza Boudjema

Transpl Int· February 2015

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[Mantle-cell lymphoma of the ocular adnexa: a case report].
Anna Paula Lemos de Albuquerque, Jonathan Seiji Aguni, Renato José Bett Correia, Franciele Vegini, André Dalsasso Borges de Souza

Arq Bras Oftalmol· April 2007

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