Marcella Devoto

Pubblicazioni

Titolo Pubblicato in Anno
An exploratory association analysis of the insulin gene region with diabetes mellitus in two dog breeds JOURNAL OF HEREDITY 2019
The Unique Disease Course of Children with Very Early Onset-Inflammatory Bowel Disease INFLAMMATORY BOWEL DISEASES 2019
Neural crest-derived tumor neuroblastoma and melanoma share 1p13.2 as susceptibility locus that shows a long-range interaction with the SLC16A1 gene CARCINOGENESIS 2019
Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility HUMAN REPRODUCTION 2018
A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1 PLOS GENETICS 2018
Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor INTERNATIONAL JOURNAL OF CANCER 2018
Commentary on Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early-onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey INFLAMMATORY BOWEL DISEASES 2017
Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma PLOS GENETICS 2017
Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease INFLAMMATORY BOWEL DISEASES 2017
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism BMC UROLOGY 2016
IQ and hemizygosity for the Val158Met functional polymorphism of COMT in 22q11DS AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS 2016
Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat MOLECULAR HUMAN REPRODUCTION 2016
Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction EUROPEAN JOURNAL OF HUMAN GENETICS 2016
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2016
THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome CMGH 2016
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome HUMAN GENETICS 2016
Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2015
Phenotype-specific association of the TGFBR3 locus with nonsyndromic cryptorchidism THE JOURNAL OF UROLOGY 2015
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia HUMAN MUTATION 2015
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family JAMA NEUROLOGY 2015

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