Get started
Author

Elisa Merello

Observed names: E Merello, E. Merello, Merello, Elisa
Observed institution: Istituto Giannina Gaslini
OpenAlex ID: A5080660658
Mutations in VANGL1 Associated with Neural-Tube Defects
2007 · Zoha Kibar, Elena Torban, et al. · New England Journal of Medicine · 314
Contribution of VANGL2 mutations to isolated neural tube defects
2010 · Z Kibar, S Salem, et al. · Clinical Genetics · 139
Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population
2002 · P. De Marco, M. Grazia Calevo, et al. · Journal of Human Genetics · 115
Novel mutations inVANGL1in neural tube defects
2009 · Zoha Kibar, Ciprian M. Bosoi, et al. · Human Mutation · 112
PDF
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans
2011 · J. H. Seo, Y. Zilber, et al. · Human Molecular Genetics · 108
PDF
Reduced folate carrier polymorphism (80A→G) and neural tube defects
2003 · Patrizia De Marco, Maria Grazia Calevo, et al. · European Journal of Human Genetics · 99
Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis
2012 · Redouane Allache, Patrizia De Marco, et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 97
FZD6is a novel gene for human neural tube defects
2011 · Patrizia De Marco, Elisa Merello, et al. · Human Mutation · 96
PDF
Identification and characterization of novel rare mutations in the planar cell polarity genePRICKLE1in human neural tube defects
2011 · Ciprian M. Bosoi, Valeria Capra, et al. · Human Mutation · 91
PDF
Loss-of-function de novo mutations play an important role in severe human neural tube defects
2015 · Philippe Lemay, Marie-Claude Guyot, et al. · Journal of Medical Genetics · 76
PDF
Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk
2005 · Patrizia De Marco, Elisa Merello, et al. · Journal of Human Genetics · 71
Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case–control study
2011 · Patrizia De Marco, Elisa Merello, et al. · Child s Nervous System · 65
No major role for the EMX2 gene in schizencephaly
2008 · Elisa Merello, Eric Swanson, et al. · American Journal of Medical Genetics Part A · 62
Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population
2014 · Patrizia De Marco, Elisa Merello, et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 60
Polymorphisms in Genes Involved in Folate Metabolism as Risk Factors for NTDs
2001 · P. De Marco, M. G. Calevo, et al. · European Journal of Pediatric Surgery · 60
Folate pathway gene alterations in patients with neural tube defects
2000 · Patrizia De Marco, Anna Moroni, et al. · American Journal of Medical Genetics · 57
Current perspectives on the genetic causes of neural tube defects
2006 · Patrizia De Marco, Elisa Merello, et al. · Neurogenetics · 55
Genetic Analysis of Disheveled 2 and Disheveled 3 in Human Neural Tube Defects
2012 · Patrizia De Marco, Elisa Merello, et al. · Journal of Molecular Neuroscience · 54
PDF
Hypoxia transcriptionally induces macrophage-inflammatory protein-3α/CCL-20 in primary human mononuclear phagocytes through nuclear factor (NF)-κB
2007 · Florinda Battaglia, Silvana Delfino, et al. · Journal of Leukocyte Biology · 54
Human neural tube defects: Genetic causes and prevention
2011 · Patrizia De Marco, Elisa Merello, et al. · BioFactors · 52
VANGL1 rare variants associated with neural tube defects affect convergent extension in zebrafish
2010 · Annie Reynolds, Jonathan R. McDearmid, et al. · Mechanisms of Development · 52
Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway
2013 · Redouane Allache, Stéphanie Lachance, et al. · Human Molecular Genetics · 39
PDF
Rare deleterious variants in GRHL3 are associated with human spina bifida
2017 · Philippe Lemay, Patrizia De Marco, et al. · Human Mutation · 37
PDF
Induction of Macrophage Glutamine: Fructose-6-Phosphate Amidotransferase Expression by Hypoxia and by Picolinic Acid
2007 · B. Manzari, J.E. Kudlow, et al. · International Journal of Immunopathology and Pharmacology · 37
PDF
Role of the planar cell polarity gene Protein tyrosine kinase 7 in neural tube defects in humans
2015 · Mingqin Wang, Patrizia De Marco, et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 35
Works count: 60
Citation count: 2,500
H-index: 29
I10-index: 44
Year
Topic
Type