(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
| العنوان: | (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome |
|---|---|
| المؤلفون: | Giuseppina Baldassarre, Luigi Tarani, Agostina De Crescenzo, Maria Vittoria Cubellis, Silvia Maitz, Maria Francesca Bedeschi, Margherita Silengo, Andrea Freschi, Marina Macchiaiolo, Cristina Molinatto, Silvia Russo, Donatella Milani, Luciano Calzari, Andrea Riccio, Milena Mariani, Giovanni Battista Ferrero, Andrea Bartuli, Lidia Larizza, Daniela Melis, Angelo Selicorni, Alessandro Mussa |
| المساهمون: | A., Mussa, S., Russo, A. D., Crescenzo, A., Freschi, L., Calzari, S., Maitz, M., Macchiaiolo, C., Molinatto, G., Baldassarre, M., Mariani, L., Tarani, M. F., Bedeschi, D., Milani, D., Meli, A., Bartuli, Cubellis, MARIA VITTORIA, A., Selicorni, M. C., Silengo, L., Larizza, A., Riccio, G. B., Ferrero, Mussa, Alessandro, Russo, Silvia, de Crescenzo, Agostina, Freschi, Andrea, Calzari, Luciano, Maitz, Silvia, Macchiaiolo, Marina, Molinatto, Cristina, Baldassarre, Giuseppina, Mariani, Milena, Tarani, Luigi, Bedeschi, Maria Francesca, Milani, Donatella, Melis, Daniela, Bartuli, Andrea, Cubellis, Maria Vittoria, Selicorni, Angelo, Cirillo Silengo, Margherita, Larizza, Lidia, Riccio, Andrea, Ferrero, Giovanni Battista |
| المصدر: | European journal of human genetics (Online) (2015). doi:10.1038/ejhg.2015.88 info:cnr-pdr/source/autori:Mussa A.; Russo S.; de Crescenzo A.; Freschi A.; Calzari L.; Maitz S.; Macchiaiolo M.; Molinatto C.; Baldassarre G.; Mariani M.; Tarani L.; Bedeschi M.F.; Milani D.; Melis D.; Bartuli A.; Cubellis M.V.; Selicorni A.; Cirillo Silengo M.; Larizza L.; Riccio A.; Ferrero G.B./titolo:(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome/doi:10.1038%2Fejhg.2015.88/rivista:European journal of human genetics (Online)/anno:2015/pagina_da:/pagina_a:/intervallo_pagine:/volume |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Male, 0301 basic medicine, Hepatoblastoma, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Beckwith-Wiedemann Syndrome, Genotype, Beckwith–Wiedemann syndrome, genotype-phenotype correlation, 030105 genetics & heredity, Biology, Gastroenterology, Article, Chromosomes, Organomegaly, Genomic Imprinting, 03 medical and health sciences, paternal uniparental disonomy, assisted reproductive technology, Neoplasms, Internal medicine, Genetics, medicine, Macroglossia, Humans, Pair 11, Cyclin-Dependent Kinase Inhibitor p57, Genetic Association Studies, Genetics (clinical), Chromosomes, Human, Pair 11, Cytogenetics, DNA Methylation, Female, Phenotype, medicine.disease, Chromosomal region, Nevus flammeus, medicine.symptom, Human |
| الوصف: | Beckwith-Wiedemann syndrome (BWS) is characterized by cancer predisposition, overgrowth and highly variable association of macroglossia, abdominal wall defects, nephrourological anomalies, nevus flammeus, ear malformations, hypoglycemia, hemihyperplasia, and organomegaly. BWS molecular defects, causing alteration of expression or activity of the genes regulated by two imprinting centres (IC) in the 11p15 chromosomal region, are also heterogeneous. In this paper we define (epi)genotype-phenotype correlations in molecularly confirmed BWS patients. The characteristics of 318 BWS patients with proven molecular defect were compared among the main four molecular subclasses: IC2 loss of methylation (IC2-LoM, n=190), IC1 gain of methylation (IC1-GoM, n=31), chromosome 11p15 paternal uniparental disomy (UPD, n=87), and cyclin-dependent kinase inhibitor 1C gene (CDKN1C) variants (n=10). A characteristic growth pattern was found in each group; neonatal macrosomia was almost constant in IC1-GoM, postnatal overgrowth in IC2-LoM, and hemihyperplasia more common in UPD (P |
| اللغة: | English |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::077edba535dc3707e8803d0aa1796385 http://hdl.handle.net/11588/608470 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....077edba535dc3707e8803d0aa1796385 |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |