Ivana Matera
Istituto Giannina Gaslini(IT)Istituti di Ricovero e Cura a Carattere Scientifico(IT)
Publications by Year
Research Areas
Congenital gastrointestinal and neural anomalies, Intestinal Malrotation and Obstruction Disorders, Digestive system and related health, Congenital Anomalies and Fetal Surgery, Neuroscience of respiration and sleep
Most-Cited Works
- → PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome(2004)285 cited
- → Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems(2005)148 cited
- → Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome(2005)119 cited
- → Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease(1993)93 cited
- → Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes(2017)91 cited
- → Interstitial deletion of the Endothelin-B receptor gene in the spotting lethal (sl) rat(1995)81 cited