M. G. Giuffrida

发表

An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs

S. Bianca, A. Novelli, A. Capalbo, 2015, American journal of medical genetics. Part A.

A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders.

L. Bernardini, B. Pivetta, G. Corona, 2019, European journal of medical genetics.

De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies

G. Scarano, L. Bernardini, M. Ciavarella, 2020, Journal of Pediatric Genetics.

Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis

A. Pizzuti, L. Bernardini, G. Piacentini, 2022, Diagnostics.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

J. Rosenfeld, C. Shaw, Marilyn C. Jones, 2022, American journal of medical genetics. Part A.

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene

B. Dallapiccola, L. Bernardini, F. Natacci, 2008, American journal of medical genetics. Part A.

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

M. Digilio, B. Dallapiccola, V. Guida, 2011, American journal of medical genetics. Part A.

3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus

L. Bernardini, E. Flex, S. Cecchetti, 2022, Diagnostics.

Cloning, expression, and antigenic characterization of recombinant protein of Mycoplasma gallisepticum expressed in Escherichia coli.

L. Bertolotti, A. Matucci, S. Catania, 2015, Poultry science.

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 .

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

A. Percesepe, P. Magini, P. Paolucci, 2014, Italian Journal of Pediatrics.

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome

M. Nicodemi, S. Bianco, A. Chiariello, 2021, Human Genetics.

Progenitor/Stem Cell Markers in Brain Adjacent to Glioblastoma: GD3 Ganglioside and NG2 Proteoglycan Expression

A. Vescovi, A. D’Alessio, L. Lauriola, 2016, Journal of neuropathology and experimental neurology.

Development of Recombinant Chimeric Antigen Expressing Immunodominant B Epitopes of Leishmania infantum for Serodiagnosis of Visceral Leishmaniasis

L. Gradoni, M. Giuffrida, E. Ferroglio, 2005, Clinical Diagnostic Laboratory Immunology.

Serodiagnosis of Visceral Leishmaniasis for Leishmania infantum Epitopes of Antigen Expressing Immunodominant B Development of Recombinant Chimeric

L. Gradoni, E. Ferroglio, F. Vitale, 2005 .

Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review.

L. Bernardini, P. Prontera, E. Donti, 2011, Genetic counseling.

Autoantibody signature in human ductal pancreatic adenocarcinoma.

M. Alessio, M. Milella, R. Chiarle, 2007, Journal of proteome research.

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.

M. Digilio, B. Dallapiccola, L. Bernardini, 2013, European journal of medical genetics.

3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother–daughter pairs

M. Digilio, B. Dallapiccola, L. Bernardini, 2009, American journal of medical genetics. Part A.

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

S. Bianca, M. Digilio, F. Brancati, 2021, Clinical genetics.

X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heart

F. Callea, B. Dallapiccola, L. Bernardini, 2010, American journal of medical genetics. Part A.

12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

A. Pizzuti, B. Gilbert-Dussardier, C. Bénéteau, 2020, American journal of medical genetics. Part A.

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

T. Mazza, A. Pizzuti, V. Guida, 2019, American journal of medical genetics. Part A.

Occurrence of chronic myeloid leukemia in a patient with CDC73 gene deletion: “Chance or Causality?”

L. Bernardini, P. Musto, V. Guarnieri, 2021, International journal of laboratory hematology.

2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review

F. Brancati, L. Bernardini, F. Vialard, 2023, European Journal of Human Genetics.

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes

V. Guida, L. Bernardini, L. Garavelli, 2023, Genes.