Publications by authors named "Fabiola Monteiro"

21Publications

Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.

Brain Dev 2020 Oct 7;42(9):691-695. Epub 2020 Aug 7.

Mendelics Genomic Analysis, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2020.05.003DOI Listing
October 2020

ATP6V1B2-related epileptic encephalopathy.

Epileptic Disord 2020 Jun;22(3):317-322

Mendelics Genomic Analysis,, Department of Neurology, University of São Paulo School of Medicine.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/epd.2020.1166DOI Listing
June 2020

Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations.

J Mol Diagn 2020 Aug 1;22(8):1041-1049. Epub 2020 Jun 1.

Laboratório de Citogenômica, Departamento de Patologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2020.05.007DOI Listing
August 2020

Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.

Brain Dev 2020 Feb 31;42(2):211-216. Epub 2019 Oct 31.

Epilepsy Clinic, Hospital Sírio-Libanês, São Paulo, Brazil; Department of Neurology, University of São Paulo School of Medicine, Brazil. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2019.09.004DOI Listing
February 2020

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

Eur J Med Genet 2020 Jan 25;63(1):103624. Epub 2019 Jan 25.

Mendelics Genomic Analysis, CEP 04013-000, São Paulo, SP, Brazil; Neurogenetics, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, SP, Brazil. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2019.01.014DOI Listing
January 2020

Contact lens-related polymicrobial keratitis: Acanthamoeba spp. genotype T4 and Candida albicans.

Parasitol Res 2018 Nov 10;117(11):3431-3436. Epub 2018 Aug 10.

Centro de Ciências da Saúde, Departamento de Análises Clínicas, Laboratório de Estudos de Protozoários Emergentes e Oportunistas, Universidade Federal de Santa Catarina (UFSC), Florianópolis, Santa Catarina, CEP 88040-970, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00436-018-6037-xDOI Listing
November 2018

Mechanism of action of camphoryl-benzene sulfonamide derivative on glucose uptake in adipose tissue.

J Cell Biochem 2018 06 27;119(6):4408-4419. Epub 2018 Feb 27.

Departamento de Bioquímica-Centro de Ciências Biológicas, Universidade Federal de Santa Catarina, Florianópolis, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcb.26506DOI Listing
June 2018

Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.

Mol Syndromol 2017 Aug 24;8(5):244-252. Epub 2017 Jun 24.

Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000477598DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582448PMC
August 2017

8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome.

J Dev Behav Pediatr 2015 Sep;36(7):544-8

Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/DBP.0000000000000197DOI Listing
September 2015

22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.

J Pediatr Genet 2015 Mar;4(1):17-22

Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas-Unicamp, Campinas, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0035-1554976DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906417PMC
March 2015

Atypical copy number abnormalities in 22q11.2 region: report of three cases.

Eur J Med Genet 2013 Sep 23;56(9):515-20. Epub 2013 Jul 23.

Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2013.07.002DOI Listing
September 2013

Hypericin encapsulated in solid lipid nanoparticles: phototoxicity and photodynamic efficiency.

J Photochem Photobiol B 2013 Aug 13;125:146-54. Epub 2013 Jun 13.

Instituto de Química de São Carlos, Universidade de São Paulo, São Carlos, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jphotobiol.2013.05.010DOI Listing
August 2013

Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay.

Gene 2013 Jan 29;513(2):301-4. Epub 2012 Sep 29.

Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, UNICAMP, Campinas, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2012.09.008DOI Listing
January 2013

In vitro evaluation of verapamil and other modulating agents in Brazilian chloroquine-resistant Plasmodium falciparum isolates.

Rev Soc Bras Med Trop 2003 Jan-Feb;36(1):5-9. Epub 2003 Apr 22.

Faculdade de Ciências Farmacêuticas, Universidade de São Paulo, São Paulo, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/s0037-86822003000100002DOI Listing
July 2003