A. Pizzuti

B. Dallapiccola, A. Pizzuti, G. Novelli, 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

High conservation of the trinucleotide [CTG]n repeat at the myotonic dystrophy locus in nonhuman primates

G. Bernardi, B. Dallapiccola, A. Pizzuti, 1994 .

TDP-43 and FUS RNA-binding Proteins Bind Distinct Sets of Cytoplasmic Messenger RNAs and Differently Regulate Their Post-transcriptional Fate in Motoneuron-like Cells*

Vincenzo Silani, A. Pizzuti, E. Buratti, 2012, The Journal of Biological Chemistry.

PARP inhibitors affect growth, survival and radiation susceptibility of human alveolar and embryonal rhabdomyosarcoma cell lines

C. Dominici, S. Ceccarelli, A. Pizzuti, 2018, Journal of Cancer Research and Clinical Oncology.

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

T. Mazza, A. Pizzuti, M. Tartaglia, 2021, Genetics in Medicine.

Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy

T. Mazza, A. Pizzuti, M. Tartaglia, 2019, Human mutation.

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

M. Digilio, B. Dallapiccola, A. Pizzuti, 2002, American journal of human genetics.

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

B. Dallapiccola, A. Pizzuti, G. Novelli, 1995, Biochemical and biophysical research communications.

A family with autosomal dominant mutilating neuropathy not linked to either Charcot–Marie–Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci

P. Girlanda, A. Pizzuti, E. Bellone, 2002, Neuromuscular Disorders.

SMT3A, a human homologue of the S. cerevisiae SMT3 gene, maps to chromosome 21qter and defines a novel gene family.

A. Pizzuti, P. J. van der Spek, F. Hanaoka, 1997, Genomics.

Identification of a novel RUNX2 gene mutation and early diagnosis of CCD in a cleidocranial dysplasia suspected Iranian family

A. Pizzuti, M. Garshasbi, L. Salehi, 2020, Clinical case reports.

Human neuronal and paraneuronal cell viability demonstrated in vitro after cryopreservation and storage

A. Falini, A. Pizzuti, G. Scarlato, 1988 .

CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects

M. Digilio, B. Dallapiccola, A. Pizzuti, 2005, American journal of medical genetics. Part A.

Unravelling the Complexity of T Cell Abnormalities in Common Variable Immunodeficiency1

B. Mora, A. Pizzuti, M. G. Paggi, 2007, The Journal of Immunology.

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.

S. Pascarella, T. Mazza, P. Marchetti, 2015, American journal of human genetics.

Clinical lumping and molecular splitting of LEOPARD and NF1/NF1‐Noonan syndromes

M. Digilio, B. Dallapiccola, A. Pizzuti, 2007, American journal of medical genetics. Part A.

In vitro effect of PPAR-γ2 Pro12Ala polymorphism on the deposition of Alzheimer's amyloid-β peptides

A. Pizzuti, J. Zingg, R. Ricciarelli, 2007, Brain Research.

The Use of Piezosurgery in Cranial Surgery in Children

A. Pizzuti, V. Ramieri, M. Castori, 2015, The Journal of craniofacial surgery.

Midtrimester isolated short femur and perinatal outcomes: A systematic review and meta‐analysis

A. Pizzuti, C. Marchetti, P. Benedetti Panici, 2018, Acta obstetricia et gynecologica Scandinavica.

Pharmacological targeting of the ephrin receptor kinase signalling by GLPG1790 in vitro and in vivo reverts oncophenotype, induces myogenic differentiation and radiosensitizes embryonal rhabdomyosarcoma cells

C. Dominici, S. Ceccarelli, H. McDowell, 2017, Journal of Hematology & Oncology.

Effects of Dipeptidyl Peptidase-4 Inhibitor Linagliptin on Left Ventricular Dysfunction in Patients with Type 2 Diabetes and Concentric Left Ventricular Geometry (the DYDA 2™ Trial). Rationale, Design, and Baseline Characteristics of the Study Population

D. Cucinotta, G. Cioffi, G. de Simone, 2019, Cardiovascular Drugs and Therapy.

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

R. Dubbioso, A. Pizzuti, A. Padovani, 2020, Frontiers in Neurology.

Obstetrical and perinatal outcomes in fetuses with early versus late sonographic diagnosis of short femur length: A single-center, prospective, cohort study.

R. Brunelli, A. Pizzuti, A. Giancotti, 2020, European journal of obstetrics, gynecology, and reproductive biology.

Prenatal diagnosis of proximal focal femoral deficiency: Literature review of prenatal sonographic findings

A. Pizzuti, A. Giancotti, E. Marcoccia, 2016, Journal of clinical ultrasound : JCU.

An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene

A. Pizzuti, G. Novelli, F. Sangiuolo, 2020, Clinical case reports.

A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome

B. Dallapiccola, A. Pizzuti, R. Mingarelli, 2004, European Journal of Human Genetics.

Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

B. Dallapiccola, A. Pizzuti, I. Bottillo, 2011, neurogenetics.

Genetic association of HLA‐DQB1 and HLA‐DRB1 polymorphisms with alopecia areata in the Italian population

B. Mora, A. Pizzuti, C. Maxia, 2011, The British journal of dermatology.

A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient.

B. Dallapiccola, A. Pizzuti, V. Guida, 2002, Investigative ophthalmology & visual science.

MRI and US in the evaluation of fetal anomalies: The need to work together

C. Catalano, A. Pizzuti, G. Rizzo, 2017, Prenatal diagnosis.

Comparative Analysis of Real-Time Polymerase Chain Reaction Methods to Typing HLA-B*57:01 in HIV-1-Positive Patients

O. Turriziani, G. Antonelli, B. Mora, 2016, AIDS research and human retroviruses.

Association of the matrix metalloproteinase-3 (MMP-3) promoter polymorphism with celiac disease in male subjects.

M. Mazzilli, B. Mora, A. Pizzuti, 2005, Human immunology.

Induction of adhesion molecules on human Schwann cells by proinflammatory cytokines, an immunofluorescence study

L. Piccio, E. Scarpini, A. Pizzuti, 1999, Journal of the Neurological Sciences.

Human neuronal cell viability demonstrated in culture after cryopreservation

A. Falini, A. Pizzuti, G. Scarlato, 1988, Brain Research.

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.

The Q121 PC-1 variant and obesity have additive and independent effects in causing insulin resistance.

A. Pizzuti, R. Vigneri, R. Di Paola, 2001, The Journal of clinical endocrinology and metabolism.

The role of PC-1 and ACE genes in diabetic nephropathy in type 1 diabetic patients: evidence for a polygenic control of kidney disease progression.

M. Margaglione, A. Pizzuti, S. De Cosmo, 2002, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A variation in 3' UTR of hPTP1B increases specific gene expression and associates with insulin resistance.

P. Almgren, A. Pizzuti, R. Vigneri, 2002, American journal of human genetics.

Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia.

A. Pizzuti, I. Minicocci, A. Montali, 2010, Atherosclerosis.

Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis

T. Mazza, V. Caputo, A. Pizzuti, 2022, Molecular Neurobiology.

Single nucleotide polymorphisms in the promoter regions of Foxp3 and ICOSLG genes are associated with Alopecia Areata

A. Pizzuti, S. Negrini, G. Filaci, 2014, Clinical and Experimental Medicine.

Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants

A. Pizzuti, A. Spalice, G. Mastromoro, 2022, Frontiers in Neurology.

Genomic structure, promoter characterisation and mutational analysis of the S100A7 gene: exclusion of a candidate for familial psoriasis susceptibility

B. Dallapiccola, A. Pizzuti, G. Novelli, 1999, Human Genetics.

Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers

A. Pizzuti, C. Capalbo, M. Torrisi, 2020, Journal of clinical medicine.

Characterization of purified populations of human fetal chromaffin cells: considerations for grafting in parkinsonian patients.

A. Falini, A. Pizzuti, G. Scarlato, 1988, Progress in brain research.

Susceptibility to ischaemic heart disease: Focusing on genetic variants for ATP-sensitive potassium channel beyond traditional risk factors.

F. Fedele, V. Caputo, A. Pizzuti, 2020, European journal of preventive cardiology.

MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants

Salvatore Daniele Bianco, T. Mazza, V. Caputo, 2022, Human mutation.

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

M. Digilio, B. Dallapiccola, A. Pizzuti, 2004, Journal of Medical Genetics.

Mitochondrial disfunction as a cause of ALS.

A. Pizzuti, S. Petrucci, 2011, Archives italiennes de biologie.

(CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients.

G. Danieli, A. Pizzuti, G. Novelli, 1993, Biochemical medicine and metabolic biology.

Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f‐PCT)

A. Pizzuti, M. Cappellini, S. Fargion, 2001, Human mutation.

Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.

J. Osinga, R. Hofstra, B. Dallapiccola, 1999, American journal of human genetics.

rhIGF-I for the Treatment of Neuromuscular Disorders

A. Pizzuti, G. Scarlato, A. Brioschi, 1998 .

Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease

A. Pizzuti, S. Gambardella, C. Di Bonaventura, 2019, Neurodegenerative Diseases.

Deletion analysis of SMN and NAIP genes in spinal muscular atrophy Italian families

B. Dallapiccola, A. Pizzuti, G. Novelli, 1996, Muscle & nerve.

miR ‐ 125 b / NRF 2 / HO ‐ 1 axis is involved in protection against oxidative stress of cystic fibrosis : A pilot study

I. Screpanti, S. Cialfi, A. Pizzuti, 2021 .

Elevated levels of miR-145 correlate with SMAD3 down-regulation in cystic fibrosis patients.

S. Cialfi, C. Dominici, A. Pizzuti, 2013, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Susceptibility to ischaemic heart disease: Focusing on genetic variants for ATP-sensitive potassium channel beyond traditional risk factors.

F. Fedele, V. Caputo, A. Pizzuti, 2020, European journal of preventive cardiology.

Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer

A. Pizzuti, V. Salvati, G. Mastromoro, 2022, Diagnostics.

Screening of thyrotropin receptor mutations by fine-needle aspiration biopsy in autonomous functioning thyroid nodules in multinodular goiters.

E. Papini, A. Porcellini, A. Pizzuti, 1999, Thyroid : official journal of the American Thyroid Association.

Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome.

B. Dallapiccola, A. Pizzuti, G. Novelli, 1999, Molecular genetics and metabolism.

Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test

A. Pizzuti, A. Angeloni, V. Leuzzi, 2018, Methods and protocols.

β-Nerve growth factor (β-NGF) mRNA expression in the Parkinsonian adrenal gland

G. Borsani, E. Rugarli, A. Falini, 1991, Experimental Neurology.

Pregnant women’s knowledge and behaviour to prevent cytomegalovirus infection: an observational study

R. Brunelli, A. Pizzuti, A. Giancotti, 2020, Journal of perinatal medicine.

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

F. Brancati, B. Dallapiccola, A. Pizzuti, 2003, Journal of neurology, neurosurgery, and psychiatry.

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus

B. Dallapiccola, A. Pizzuti, G. Novelli, 1996, Human mutation.

TLR4 T399I Polymorphism and Endometriosis in a Cohort of Italian Women

A. Pizzuti, P. Benedetti Panici, C. Marchese, 2020, Diagnostics.

DiGeorge Syndrome

B. Dallapiccola, A. Pizzuti, F. Sangiuolo, 2007 .

Genetic variants of modulators of insulin action

A. Pizzuti, V. Tassi, V. Trischitta, 2003 .

ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia

M. Digilio, B. Dallapiccola, A. Pizzuti, 2005, American journal of medical genetics. Part A.

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

B. Dallapiccola, A. Pizzuti, D. Gianni, 2003, Human mutation.

Idiopathic generalized epilepsy and café-au-lait macules as the predominant features in NF1 mild form

A. Pizzuti, S. Ferracuti, A. Giallonardo, 2021 .

Characterization of a new TSPY gene family member in Yq (TSPYq1)

A. Pizzuti, A. Ratti, V. Gatta, 2000, Cytogenetic and Genome Research.

Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non‐syndromic atrioventricular canal defect

M. Digilio, B. Dallapiccola, A. Pizzuti, 2006, American journal of medical genetics. Part A.

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance

T. Mazza, V. Caputo, A. Pizzuti, 2020, Molecular genetics & genomic medicine.

Hepatitis G virus infection in hemodialysis patients.

A. Pizzuti, C. Ponticelli, G. Graziani, 1997, Kidney international.

LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease.

A. Pizzuti, N. Lindor, E. Conti, 2004, Journal of vascular surgery.

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.

B. Dallapiccola, A. Pizzuti, G. Limongelli, 2004, Birth defects research. Part A, Clinical and molecular teratology.

Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

A. Pizzuti, M. Castori, P. Grammatico, 2013, European journal of medical genetics.

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

M. Digilio, B. Dallapiccola, A. Pizzuti, 2003 .

Author's response to reviews Title:Deep Sequencing the microRNA profile in rhabdomyosarcoma reveals down-regulation of miR-378 family members. Authors:

S. Cialfi, H. McDowell, A. Pizzuti, 2014 .

Dysmyelinating sensory‐motor neuropathy in merosin‐deficient congenital muscular dystrophy

D. Gambi, A. Pizzuti, A. Ratti, 2003, Muscle & nerve.

High prevalence of epilepsy in a village in the Littoral Province of Cameroon

M. Rinaldis, V. Vullo, A. Pizzuti, 2008, Epilepsy Research.

Expression study of survival motor neuron gene in human fetal tissues.

B. Dallapiccola, A. Pizzuti, G. Novelli, 1997, Biochemical and molecular medicine.

Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb

A. Pizzuti, R. Mingarelli, L. Stuppia, 2000, European Journal of Human Genetics.

Incidental SOS1 variant identified by non-invasive prenatal screening: Prenatal diagnosis and family clinical reassessment.

A. Pizzuti, M. Baldi, F. Ventriglia, 2020, European journal of obstetrics, gynecology, and reproductive biology.

Nonsyndromic Pulmonary Valve Stenosis and the PTPN11 Gene

M. Digilio, B. Dallapiccola, A. Pizzuti, 2003, American journal of medical genetics. Part A.

Clinical features and outcome of familial chronic lymphocytic leukemia.

R. Foà, A. Pizzuti, A. Guarini, 2006, Haematologica.

Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring.

C. Caskey, A. Pizzuti, R. Fenwick, 1993, JAMA.

A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13

J. Féher, F. Brancati, E. Valente, 2004, Journal of Medical Genetics.

Altered Expression of Candidate Genes in Mayer–Rokitansky–Küster–Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X

S. Ceccarelli, A. Pizzuti, L. Bernardini, 2021, Biology.

Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome

S. Ceccarelli, A. Pizzuti, L. Bernardini, 2021, Scientific reports.

Preliminary data suggest that mutations in the CgRP pathway are not involved in human sporadic cryptorchidism

B. Dallapiccola, A. Pizzuti, S. Douzgou, 2004, Journal of endocrinological investigation.

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

J. Sutcliffe, D. Nelson, S. Warren, 1991, Cell.

Genomic organization, physical mapping, and involvement in Yq microdeletions of the VCY2 (BPY 2) gene.

A. Pizzuti, R. Mingarelli, V. Gatta, 2001, Genomics.

Characterization of novel genes in AZF regions

A. Pizzuti, R. Grande, V. Gatta, 2000, Journal of endocrinological investigation.

Mutations of the Nogo‐66 receptor (RTN4R) gene in schizophrenia

C. Caltagirone, G. Spalletta, B. Dallapiccola, 2004, Human mutation.

Synergistic Post-Transcriptional Regulation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) by miR-101 and miR-494 Specific Binding

S. Cialfi, C. Dominici, A. Pizzuti, 2011, PloS one.

Quantification of Small Non-Coding RNAs Allows an Accurate Comparison of miRNA Expression Profiles

Letizia Da Sacco, A. Masotti, B. Dallapiccola, 2009, Journal of biomedicine & biotechnology.

Functional analysis of splicing mutations in exon 7 of NF1 gene

B. Dallapiccola, A. Pizzuti, V. Guida, 2007, BMC Medical Genetics.

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

A. Battaglia, M. Digilio, B. Dallapiccola, 2005, American journal of human genetics.

Epilepsy with auditory features: A LGI1 gene mutation suggests a loss‐of‐function mechanism

M. Manfredi, B. Dallapiccola, A. Pizzuti, 2003, Annals of Neurology.

mRNA distribution in adult human brain of GRIN2B, a N-methyl-d-aspartate (NMDA) receptor subunit

A. Pizzuti, E. Bellone, A. Schenone, 1997, Neuroscience Letters.

Crizotinib-induced antitumour activity in human alveolar rhabdomyosarcoma cells is not solely dependent on ALK and MET inhibition

C. Dominici, S. Ceccarelli, H. McDowell, 2015, Journal of experimental & clinical cancer research : CR.

Deep Sequencing the microRNA profile in rhabdomyosarcoma reveals down-regulation of miR-378 family members

S. Cialfi, C. Dominici, H. McDowell, 2014, BMC Cancer.

Brain Derived Neurotrophic Factor (BDNF) Expression Is Regulated by MicroRNAs miR-26a and miR-26b Allele-Specific Binding

V. Caputo, A. Pizzuti, L. Sinibaldi, 2011, PloS one.

Crizotinib-induced antitumour activity in human alveolar rhabdomyosarcoma cells is not solely dependent on ALK and MET inhibition

C. Dominici, S. Ceccarelli, H. McDowell, 2015, Journal of Experimental & Clinical Cancer Research.

Association between the human glycoprotein PC-1 gene and elevated glucose and insulin levels in a paired-sibling analysis.

L. Groop, P. Almgren, E. Lindholm, 2000, Diabetes.

A transposon-like element in the deletion-prone region of the dystrophin gene.

R. Gibbs, C. Caskey, A. Pizzuti, 1992, Genomics.

Clinical Significance of MicroRNA Expression Profiles and Polymorphisms in Lung Cancer Development and Management

A. Pizzuti, L. Frati, F. Megiorni, 2011, Pathology research international.

A sketch of known and novel MYCN-associated miRNA networks in neuroblastoma

S. Cialfi, C. Dominici, H. McDowell, 2017, Oncology reports.

Cytogenetic mapping of a novel locus for type II Waardenburg syndrome

A. Pizzuti, A. Ratti, A. Selicorni, 2001, Human Genetics.

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

B. Gelb, B. Dallapiccola, A. Pizzuti, 2006, American journal of human genetics.

Hyperthrophic cardiomyopathy and the PTPN11 gene

C. Autore, B. Dallapiccola, A. Pizzuti, 2005, American journal of medical genetics. Part A.

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

B. Fernandez, D. Huntsman, P. Pharoah, 2007, JAMA.

A Novel PTPN11 mutation in LEOPARD syndrome

B. Dallapiccola, A. Pizzuti, E. Conti, 2003, Human mutation.

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

A. Pizzuti, G. Mastromoro, A. Traversa, 2022, Diagnostics.

Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives—A Systematic Review

A. Pizzuti, G. Mastromoro, Daniele Guadagnolo, 2021, Diagnostics.

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11

M. Mangino, B. Dallapiccola, A. Pizzuti, 2002, Human Genetics.

Mapping of the MYCL2 processed gene to Xq22‐23 and identification of an additional L MYC‐related sequence in Xq27.2

A. Pizzuti, A. Di Bacco, C. Montagna, 1999, FEBS letters.

Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis

A. Pizzuti, A. Giancotti, L. Manganaro, 2017, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

N. Brunetti‐Pierri, T. Mazza, M. Digilio, 2023, European Journal of Human Genetics.

Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells

A. Pizzuti, L. Bernardini, I. Torrente, 2023, American journal of medical genetics. Part A.

Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L).

A. Baldini, B. Dallapiccola, A. Pizzuti, 1998, Biochimica et biophysica acta.

The K121Q variant of the human PC-1 gene is not associated with insulin resistance or type 2 diabetes among Danish Caucasians.

T. Hansen, O. Pedersen, K. Borch-Johnsen, 2000, Diabetes.

Triplet repeat mutations in human disease.

D. Nelson, C. Caskey, A. Pizzuti, 1992, Science.

Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR

C. Caskey, A. Pizzuti, M. Grompe, 1992, Human Genetics.

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats.

C. Angelini, B. Dallapiccola, A. Pizzuti, 1996, American journal of medical genetics.

Cytotoxic T-lymphocyte antigen 4 (CTLA4) +49AG and CT60 gene polymorphisms in Alopecia Areata: a case–control association study in the Italian population

B. Mora, A. Pizzuti, C. Maxia, 2013, Archives of Dermatological Research.

The myotonic dystrophy gene.

C. Caskey, A. Pizzuti, D. Friedman, 1993, Archives of neurology.

UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.

B. Dallapiccola, A. Pizzuti, G. Novelli, 1997, Human molecular genetics.

Update in non-invasive prenatal testing.

R. Brunelli, A. Pizzuti, P. Benedetti Panici, 2019, Minerva ginecologica.

Restrictive dermopathy: Novel ZMPSTE24 mutation and clues for prenatal diagnosis

T. Mazza, V. Caputo, A. Pizzuti, 2019 .

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.

M. Magliozzi, V. Caputo, A. Pizzuti, 2018, Archives of oral biology.

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

F. Kortüm, B. Dallapiccola, V. Caputo, 2015, Nature Genetics.

Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings

A. Pizzuti, M. Torrisi, M. Piane, 2021, Frontiers in Neurology.

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.

V. Caputo, A. Pizzuti, I. Bottillo, 2016, Gene.

Additive Effects of Genetic Variation in Dopamine Regulating Genes on Working Memory Cortical Activity in Human Brain

Tommaso Scarabino, Giuseppe Blasi, Alessandro Bertolino, 2006, The Journal of Neuroscience.

Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome.

B. Dallapiccola, A. Pizzuti, G. Novelli, 1996, American journal of human genetics.

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

M. Bamshad, V. Caputo, A. Pizzuti, 2016, American journal of human genetics.

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

M. Bamshad, V. Caputo, A. Pizzuti, 2016, bioRxiv.

Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome

S. Ceccarelli, A. Pizzuti, L. Bernardini, 2021, Scientific Reports.

Evidence of involvement of a novel VUS variant in the CHKB gene to congenital muscular dystrophy affection

A. Pizzuti, M. Garshasbi, Omid Daneshjoo, 2020, Meta Gene.

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

R. Gibbs, T. Ashizawa, A. Pizzuti, 1993, Science.

Leiomyosarcoma of the larynx: case report with pathologic and surgical considerations.

A. Pizzuti, M. de Vincentiis, M. Fusconi, 2002, The Journal of otolaryngology.

HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing

A. Pizzuti, F. Megiorni, 2012, Journal of Biomedical Science.

Echocardiographic features and outcome of restrictive foramen ovale in fetuses with and without cardiac malformations: Literature review

R. Brunelli, A. Pizzuti, A. Giancotti, 2022, Journal of clinical ultrasound : JCU.

A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma—Systematic Review of the Literature, Meta-Analysis and Case Series

A. Pizzuti, L. Bernardini, A. Giancotti, 2022, Diagnostics.

Giant Scrotal Elephantiasis: An Idiopathic Case

A. Pizzuti, K. Margiotti, A. Degener, 2010, International journal of immunopathology and pharmacology.

Case report of adult-onset Allgrove syndrome

A. Pizzuti, F. Fattapposta, E. Iacovelli, 2007, Neurological Sciences.

F. GilioS. Di RezzeA. ConteV. FrascaE. IacovelliC. Marini BettoloM. GabrieleE. Giacomelli A. PizzutiC. PirroF. FattappostaF.I. HabibM. PrencipeM. Inghilleri

A. Pizzuti, A. Conte, S. Rotondo, 2007 .

A cluster of three single nucleotide polymorphisms in the 3'-untranslated region of human glycoprotein PC-1 gene stabilizes PC-1 mRNA and is associated with increased PC-1 protein content and insulin resistance-related abnormalities.

A. Pizzuti, R. Vigneri, R. Di Paola, 2001, Diabetes.

Novel SMAD4 mutation causing Myhre syndrome

V. Caputo, A. Pizzuti, M. Tartaglia, 2014, American journal of medical genetics. Part A.

Pentanucleotide repeat length polymorphism at the human CD4 locus.

R. Gibbs, A. Pizzuti, M. C. Edwards, 1991, Nucleic acids research.

Heterozygous Pathogenic Nonsense ATM Variant Resulting in Unusually High Gastric Cancer Susceptibility

A. Pizzuti, G. Mastromoro, M. Piane, 2021 .

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene

M. Digilio, B. Dallapiccola, A. Pizzuti, 2003, European Journal of Human Genetics.

Neuroimaging and Cerebrovascular Changes in Fetuses with Complex Congenital Heart Disease

C. Catalano, A. Pizzuti, F. Signore, 2022, Journal of clinical medicine.

Single‐nucleotide polymorphisms in 3′‐untranslated region inducible costimulator gene and the important roles of miRNA in alopecia areata

A. Pizzuti, S. Negrini, D. Coviello, 2021, Skin health and disease.

cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene.

B. Dallapiccola, A. Pizzuti, G. Novelli, 1996, Human molecular genetics.

Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency

A. Pizzuti, H. Houlden, I. Bottillo, 2010, Journal of the Neurological Sciences.

DNMT3B in vitro knocking-down is able to reverse embryonal rhabdomyosarcoma cell phenotype through inhibition of proliferation and induction of myogenic differentiation

C. Dominici, S. Ceccarelli, H. McDowell, 2016, Oncotarget.

Fetal tongue posture associated with micrognathia: An ultrasound marker of cleft secondary palate?

A. Pizzuti, P. Benedetti Panici, P. Cascone, 2020, Journal of clinical ultrasound : JCU.

Motor neurone metabolism

A. Pizzuti, G. Scarlato, V. Silani, 1999, Journal of the Neurological Sciences.

Treatment Outcomes of the Summer Treatment Program for Children with Adhd and Comorbid Mental Health Diagnoses

A. Pizzuti, 2013 .

Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients.

A. Pizzuti, V. Guida, F. Consoli, 2017, Archives of oral biology.

BET inhibition therapy counteracts cancer cell survival, clonogenic potential and radioresistance mechanisms in rhabdomyosarcoma cells.

C. Dominici, S. Ceccarelli, A. Pizzuti, 2020, Cancer letters.

Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.

P. Barone, B. Dallapiccola, G. Abbruzzese, 2004, Parkinsonism & related disorders.

How many breaks do we need to CATCH on 22q11?

B. Dallapiccola, A. Pizzuti, G. Novelli, 1996, American journal of human genetics.

Postzygotic instability of the myotonic dystrophy p[AGC]n repeat supported by larger expansions in muscle and reduced amplifications in sperm

C. Angelini, B. Dallapiccola, A. Pizzuti, 1995, Journal of Neurology.

Cloning and molecular characterization of three Ubiquitin Fusion Degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus andDrosophila melanogaster

B. Dallapiccola, A. Pizzuti, G. Novelli, 2001, Cytogenetic and Genome Research.

Animal Cytogenetics and Comparative Mapping

A. Pizzuti, G. Novelli, F. Amati, 2001 .

GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.

T. Mazza, V. Caputo, A. Pizzuti, 2020, Bone.

Triplet Repeat Mutations in Human Disease

C. Caskey, A. Pizzuti, Ying-Hui Fu, 1992, Science.

Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12

M. Mangino, B. Dallapiccola, A. Pizzuti, 2003, Journal of medical genetics.

A PC-1 amino acid variant (K121Q) is associated with faster progression of renal disease in patients with type 1 diabetes and albuminuria.

M. Margaglione, A. Pizzuti, S. De Cosmo, 2000, Diabetes.

35th Annual meeting of the European Association for the Study of Diabetes. Brussels, Belgium, 28 September-2 October, 1999. Abstracts.

Thomas J. Smith, B. M. Rasmussen, V. C. Phan, 1999, Diabetologia.

Risk of neural tube defects according to maternal body mass index: a systematic review and meta-analysis

A. Pizzuti, A. Giancotti, F. Vena, 2021, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance.

G Scarlato, L. Iacoviello, A. Pizzuti, 1999, Diabetes.

Ulerythema Ophryogenes, a Rare and Often Misdiagnosed Syndrome: Analysis of an Idiopathic Case

A. Pizzuti, A. Degener, C. Dianzani, 2011, International journal of immunopathology and pharmacology.

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

E. Bertini, A. Jezela-Stanek, R. Płoski, 2019, Journal of Neurology.

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

V. Caputo, A. Pizzuti, M. Tartaglia, 2013, Journal of Medical Genetics.

The emerging role of MicroRNA in schizophrenia.

V. Caputo, A. Pizzuti, S. Macrì, 2015, CNS & neurological disorders drug targets.

Oral health in two heterozygote female twins with congenital lactic acidosis

A. Pizzuti, L. Ottolenghi, M. Mazur, 2017 .

Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?

C. Autore, A. Pizzuti, M. Volpe, 2023, Frontiers in Cardiovascular Medicine.

Primary cultures of human caudate nucleus.

A. Falini, A. Pizzuti, G. Scarlato, 1988, Applied neurophysiology.

The Q allele variant (GLN121) of membrane glycoprotein PC-1 interacts with the insulin receptor and inhibits insulin signaling more effectively than the common K allele variant (LYS121).

A. Pizzuti, R. Vigneri, R. Di Paola, 2001, Diabetes.

OTX015 Epi-Drug Exerts Antitumor Effects in Ovarian Cancer Cells by Blocking GNL3-Mediated Radioresistance Mechanisms: Cellular, Molecular and Computational Evidence

S. Ceccarelli, A. Pizzuti, P. Benedetti Panici, 2021, Cancers.

Immunogenetic investigation in vernal keratoconjunctivitis

B. Mora, A. Pizzuti, F. Occasi, 2014, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

M. Digilio, B. Dallapiccola, A. Pizzuti, 2005, Journal of Medical Genetics.

Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle.

C. Caskey, B. Dallapiccola, A. Pizzuti, 1993, Biochemistry and molecular biology international.

Adrenal medulla autograft in 3 parkinsonian patients: results using two different approaches.

A. Falini, A. Pizzuti, E. Motti, 1990, Progress in brain research.

Lack of association between serotonin transporter 5-HTT gene polymorphism and endometriosis in an Italian patient population

A. Pizzuti, P. Benedetti Panici, G. Cavaggioni, 2014, Journal of Negative Results in BioMedicine.

Novel Italian family supports clinical and genetic heterogeneity of primary adult‐onset torsion dystonia

A. Berardelli, G. Defazio, F. Brancati, 2002, Movement disorders : official journal of the Movement Disorder Society.

Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2‐opathy

A. Pizzuti, E. Agolini, A. Novelli, 2021, 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.

Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis

A. Pizzuti, M. Castori, P. Grammatico, 2011, 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.

Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.

A. Pizzuti, A. Spalice, A. Giancotti, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Neurocognitive effects of methylphenidate on ADHD children with different DAT genotypes: a longitudinal open label trial.

A. Pizzuti, S. Douzgou, P. Curatolo, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Role of peroxisome proliferator-activated receptor γ in amyloid precursor protein processing and amyloid β-mediated cell death

A. Pizzuti, A. Azzi, P. Marambaud, 2005 .

Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci

M. Mangino, B. Dallapiccola, A. Pizzuti, 2003, American journal of medical genetics. Part A.

Cryopreservation of human fetal adrenal medullary cells

A. Falini, A. Pizzuti, G. Scarlato, 1988, Brain Research.

cDNA sequence of human beta-NGF

G Borsani, A Pizzuti, E I Rugarli, 1990, Nucleic Acids Res..

Severe Neuropathy After Diphtheria-Tetanus-Pertussis Vaccination in a Child Carrying a Novel Frame-Shift Mutation in the Small Heat-Shock Protein 27 Gene

A. Pizzuti, A. Geroldi, E. Bellone, 2010, Journal of child neurology.

Effect of nerve growth factor in adrenal autografts in parkinsonism

A. Falini, A. Pizzuti, G. Scarlato, 1990, Annals of neurology.

Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy

Alfredo Berardelli, Antonio Suppa, A. Berardelli, 2009, Epilepsia.

ALS cerebrospinal fluid enhances human foetal astroglial cell proliferation in vitro.

A. Pizzuti, G. Scarlato, V. Silani, 1987, Advances in experimental medicine and biology.

A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy

C. Autore, A. Pizzuti, M. Fabiani, 2023, Current issues in molecular biology.

Beta-nerve growth factor (beta-NGF) mRNA expression in the parkinsonian adrenal gland.

G. Borsani, E. Rugarli, A. Falini, 1991, Experimental Neurology.

Human fetal brain β-nerve growth factor cDNA: molecular cloning of 5′ and 3′ untranslated regions

G. Borsani, E. Rugarli, A. Falini, 1991, Neuroscience Letters.

An ATG repeat in the 3'-untranslated region of the human resistin gene is associated with a decreased risk of insulin resistance.

B. Dallapiccola, A. Pizzuti, R. Vigneri, 2002, The Journal of clinical endocrinology and metabolism.

RECURRENT PRENATAL PIEZO1-RELATED LYMPHATIC DYSPLASIA: EXPANDING MOLECULAR AND ULTRASOUND FINDINGS.

M. D. Di Gregorio, A. Pizzuti, A. Novelli, 2020, European journal of medical genetics.

Role of fetal MRI in the evaluation of isolated and non‐isolated corpus callosum dysgenesis: results of a cross‐sectional study

C. Catalano, A. Pizzuti, C. De Vito, 2017, Prenatal diagnosis.

Immunomagnetic isolation of human developing motor neurons

A. Pizzuti, A. Brioschi, F. Zhou, 1998, NeuroReport.

Erratum: Epilepsy with auditory features: A LGI1 gene mutation suggests a loss-of-function mechanism (Annals of Neurology (2003) 53 (396-399))

M. Manfredi, B. Dallapiccola, A. Pizzuti, 2003 .

LGI1 gene mutation screening in sporadic partial epilepsy with auditory features

M. Manfredi, B. Dallapiccola, A. Pizzuti, 2005, Journal of Neurology.

Human developing motor neurons as a tool to study ALS

A. Pizzuti, G. Scarlato, V. Silani, 2001, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

Human NRD convertase: a highly conserved metalloendopeptidase expressed at specific sites during development and in adult tissues.

A. Simeone, A. Pizzuti, R. Taramelli, 1998, Genomics.

Role of peroxisome proliferator-activated receptor gamma in amyloid precursor protein processing and amyloid beta-mediated cell death.

A. Pizzuti, A. Azzi, P. Marambaud, 2005, The Biochemical journal.

Human Elongation Factor EF-1β: Cloning and Characterization of the EF1β5a Gene and Assignment of EF-1β Isoforms to Chromosomes 2, 5, 15, and X

C. Caskey, B. Dallapiccola, A. Pizzuti, 1993 .

Deep Sequencing the microRNA profile in rhabdomyosarcoma reveals down-regulation of miR-378 family members

S. Cialfi, C. Dominici, H. McDowell, 2014, BMC Cancer.

Detection of β-nerve growth factor mRNA in the human fetal brain

G. Borsani, E. Rugarli, A. Falini, 1990, Brain Research.

External hydrocephalus as a prenatal feature of noonan syndrome

A. Pizzuti, A. De Luca, L. Manganaro, 2021, Annals of human genetics.

Two Novel Mutations Affecting Splicing in the IRF6 Gene Associated With van der Woude Syndrome

F. Brancati, A. Pizzuti, V. Gatta, 2010, The Journal of craniofacial surgery.

Prenatal CFAP53-related laterality defect: case report and review of the literature

A. Pizzuti, L. Bernardini, A. Novelli, 2023, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

X-linked dominant RPGR gene mutation in a familial Coats angiomatosis

A. Pizzuti, A. Lambiase, M. Nebbioso, 2021, BMC Ophthalmology.

Hyperechogenic fetal bowel: Current evidence-based prenatal diagnosis and management.

A. Pizzuti, F. Signore, A. Giancotti, 2023, Journal of clinical ultrasound : JCU.

Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

A. Pizzuti, G. Mastromoro, M. Piane, 2023, Biomedicines.

A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome

R. Mancini, A. Pizzuti, G. Di Nardo, 2022, Diagnostics.

A novel c.952T>C mutation in Notch3 gene in a patient with chronic non‐migraine‐like headache: Expanding the genotypic spectrum of CADASIL?

A. Pizzuti, C. Vollono, G. Della Marca, 2022, Clinical genetics.

Androgen insensitivity syndrome.

A. Pizzuti, A. Porrello, C. Vallone, 2018, European review for medical and pharmacological sciences.

Additional lesions identified by genomic microarrays are associated with an inferior outcome in low‐risk chronic lymphocytic leukaemia patients

R. Foà, A. Pizzuti, A. Guarini, 2023, British journal of haematology.

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation

T. Mazza, V. Caputo, A. Pizzuti, 2019, Molecular genetics & genomic medicine.

Anticipation in myotonic dystrophy

E. Boerwinkle, T. Ashizawa, C. Caskey, 1992, Neurology.

Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II.

A. Windebank, A. Pizzuti, E. Bellone, 1999, American journal of medical genetics.

The role of genetic testing in suspected fulminant myocarditis: A case report

C. Autore, A. Pizzuti, M. Fabiani, 2023, Molecular genetics and metabolism reports.

NGF‐response of EGF‐dependent progenitor cells obtained from human sympathetic ganglia

A. Pizzuti, G. Borasio, G. Scarlato, 1994, Neuroreport.

Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline

A. Pizzuti, M. Torrisi, A. Lombardi, 2018, Oncotarget.

Congenital Central Hypoventilation Syndrome Caused by A de novo RET Pathogenic Variant

A. Pizzuti, A. Spalice, P. Silvestri, 2021 .