Publications by authors named "Rodrigo A Fock"

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Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Camila Mendes, Thereza Loureiro, Darine Villela, Marcelo Imbroinise Bittencourt, Joselito Sobreira, Rodrigo Ambrosio Fock

Mol Genet Metab Rep· September 2024

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A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.
Michele Patricia Migliavacca, Rodrigo Ambrosio Fock, Nadia Almeida, Thereza Cavalcanti, Darine Villela

Rev Paul Pediatr· April 2023

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Brazilian Position Statement for Familial Chylomicronemia Syndrome - 2023.
Maria Cristina de Oliveira Izar, Raul Dias Dos Santos Filho, Marcelo Heitor Vieira Assad, Antonio Carlos Palandri Chagas, Alceu de Oliveira Toledo Júnior, Rodrigo Ambrosio Fock

Arq Bras Cardiol· March 2023

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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Rodrigo Ambrosio Fock

Brain· July 2022

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TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMENT VALIDITY FOR A MORPHOLOGICAL EXAMINATION PERFORMED IN CHILDREN WITH AUTISM SPECTRUM DISORDER.
Thais Arbocese Zanolla, Eduardo Perrone, Rodrigo Ambrosio Fock, Daniela Bordini, Helena Paula Brentani

Rev Paul Pediatr· November 2020

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Atypical Prader-Willi and 15q13.3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation.
Mileny E S Colovati, Beatriz M Grossi, Gabriela D Nunes, Rodrigo A Fock, Dulce R Guedes

Cytogenet Genome Res· September 2019

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A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.
Claudia Ismania Samogy-Costa, Elisa Varella-Branco, Frederico Monfardini, Helen Ferraz, Rodrigo Ambrósio Fock

J Neurodev Disord· July 2019

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Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature.
Fernanda T Bellucco, Rodrigo A Fock, Hélio R de Oliveira-Júnior, Ana B Perez, Maria I Melaragno

Cytogenet Genome Res· February 2019

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Determining the frequency of morphological characteristics in a sample of Brazilian children.
Eduardo Perrone, Thais Arbocese Zanolla, Rodrigo Ambrosio Fock, Ana Beatriz Alvarez Perez, Decio Brunoni

J Pediatr (Rio J)· November 2017

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Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
Viviane Neri de Souza Reis, João Paulo Kitajima, Ana Carolina Tahira, Ana Cecília Feio-Dos-Santos, Rodrigo Ambrósio Fock

PLoS One· August 2017

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Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
Thaís Fenz Araujo, Erlane Marques Ribeiro, Anderson Pontes Arruda, Carolina Araujo Moreno, Paula Frassinetti Vasconcelos de Medeiros, Rodrigo Ambrosio Fock

Eur J Med Res· August 2016

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