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Monica Castro Varela

Observed names: M C Varela, M. Varela, M.C. Varela, MC Varela, Monica C Varela, Monica C. Varela, Márcia Carneiro Varela, Mônica Varela, Mônica Varella, Varela, Monica
OpenAlex ID: A5111988623
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
2006 · Charles Shaw-Smith, Alan M Pittman, et al. · Nature Genetics · 367
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations
2006 · A.C.V. Krepischi-Santos, A.M. Vianna-Morgante, et al. · Cytogenetic and Genome Research · 123
Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems
2006 · Carla S. D'Angelo, José A. Da Paz, et al. · European Journal of Medical Genetics · 122
Impact of molecular mechanisms, including deletion size, on Prader–Willi syndrome phenotype: study of 75 patients
2004 · MC Varela, F Kok, et al. · Clinical Genetics · 117
Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects
2004 · Monica Castro Varela, Fernando Kok, et al. · European Journal of Human Genetics · 116
Epilepsy in Patients With Angelman Syndrome Caused by Deletion of the Chromosome 15q11-13
2006 · Kette D. Valente, Célia P. Koiffmann, et al. · Archives of Neurology · 111
A new case of interstitial 6q16.2 deletion in a patient with Prader–Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity
2006 · Monica C. Varela, Alex Y. Simões-Sato, et al. · European Journal of Medical Genetics · 88
Paternal UPD15: Further genetic and clinical studies in four Angelman syndrome patients
2000 · Cintia Fridman, Monica C. Varela, et al. · American Journal of Medical Genetics · 76
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
2018 · Carla Sustek D’Angelo, Monica Castro Varela, et al. · Molecular Cytogenetics · 52
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Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency
2011 · Leonardo P. Capelli, Ana C.V. Krepischi, et al. · European Journal of Medical Genetics · 50
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene
2003 · C. Fridman, N. Hosomi, et al. · American Journal of Medical Genetics Part A · 49
A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient
2006 · M.C. Varela, A.C.V. Krepischi-Santos, et al. · Cytogenetic and Genome Research · 47
Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia
2009 · Carla S. D'Angelo, Ilana Kohl, et al. · American Journal of Medical Genetics Part A · 40
Angelman syndrome caused by deletion: A genotype–phenotype correlation determined by breakpoint
2013 · Kette D. Valente, Monica Castro Varela, et al. · Epilepsy Research · 35
Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins
2017 · Fernanda S. Jehee, Valdirene T. de Oliveira, et al. · American Journal of Medical Genetics Part A · 31
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants
2013 · Carla Sustek D'Angelo, Ilana Kohl, et al. · American Journal of Medical Genetics Part A · 28
Prader-Willi Syndrome: Genetic Tests and Clinical Findings
2000 · Cintia Fridman, Monica C. Varela, et al. · Genetic Testing · 28
Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q
1998 · Cintia Fridman, Monica C Varela, et al. · Clinical Genetics · 28
Angelman syndrome: Uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns
2005 · Kette D. Valente, Cintia Fridman, et al. · Epilepsy Research · 18
Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15)
2004 · Monica C. Varela, Graziela M.P. Lopes, et al. · Annales de Génétique · 17
Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes
2014 · Carla S D’Angelo, Monica C Varela, et al. · Molecular Cytogenetics · 16
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Inv dup (15): Is the electroclinical phenotype helpful for this challenging clinical diagnosis?
2006 · Kette D. Valente, Alessandra Freitas, et al. · Clinical Neurophysiology · 13
A rare case of trisomy 15pter‐q21.2 due to a de novo marker chromosome
2010 · Ade Nubia Xavier Pacanaro, Denise Maria Christofolini, et al. · American Journal of Medical Genetics Part A · 8
A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome
2012 · Caio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, et al. · Clinics · 7
Phenotypic and behavioral variability within Angelman Syndrome group with UPD
2002 · Cintia Fridman, Monica C. Varela, et al. · Genetics and Molecular Biology · 6
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Works count: 47
Citation count: 1,599
H-index: 18
I10-index: 22
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