D. Postorivo

发表

First evidence of Smith–Magenis syndrome in mother and daughter due to a novel RAI mutation

G. Scarano, M. Sana, M. Pinelli, 2017, American journal of medical genetics. Part A.

Small 4p16.3 deletions: Three additional patients and review of the literature

G. Scarano, M. Digilio, B. Dallapiccola, 2018, American journal of medical genetics. Part A.

A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype

F. Brancati, C. Moretti, A. Nardone, 2017, Cytogenetic and Genome Research.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome

L. Goracci, G. Mazzoccoli, D. Raimondo, 2022, Cell Death & Disease.

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

A. Novelli, A. Renieri, R. Genesio, 2019, Molecular genetics & genomic medicine.

Easychip 8x15k: A New Tool for Detecting Chromosome Anomalies in Low Risk Pregnancies, Supporting and Integrating Standard Karyotype

B. Dallapiccola, L. Bernardini, A. Novelli, 2016 .

De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver

F. Brancati, A. Nardone, F. del Bufalo, 2014, Italian Journal of Pediatrics.

Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes

A. Battaglia, M. Spielmann, F. Garaci, 2019, Clinical genetics.

Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings

N. Modugno, G. Novelli, S. Gambardella, 2015, Parkinson's disease.

Now you can! Reality & Future Applications of array CGH in prenatal diagnosis.

G. Novelli, M. Biancolella, A. Nardone, 2009, Journal of prenatal medicine.

De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems.

P. Curatolo, A. Verrotti, A. Nardone, 2011, European journal of medical genetics.

Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy.

P. Cortelli, S. Avnet, N. Maraldi, 2013, Biochimica et biophysica acta.

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.

T. Mattina, D. Giardino, L. Larizza, 2017, European journal of medical genetics.

Identification of i(X)(p10) as the sole molecular abnormality in atypical chronic myeloid leukemia evolved into acute myeloid leukemia.

M. Voso, F. Lo‐Coco, A. Nardone, 2017, Molecular and clinical oncology.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.