L. Pezzoli

发表

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Riccardo Bellazzi, Ivan Limongelli, Roberto Ciccone, 2014, European Journal of Human Genetics.

Novel &agr;-Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias: A Massively Parallel Sequencing Study

M. Sana, C. Basso, M. Benelli, 2014, Circulation. Cardiovascular genetics.

Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.

Angharad M Roberts, R. Brugada, P. Elliott, 2020, Journal of the American College of Cardiology.

Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome

M. Sana, A. Spitaleri, G. Musco, 2014, American journal of medical genetics. Part A.

A novel HIST1HE pathogenic variant in a girl with macrocephaly and intellectual disability: a new case and review of literature

A. Selicorni, M. Iascone, L. Pezzoli, 2020, Clinical dysmorphology.

A new mutational mechanism for hypertrophic cardiomyopathy.

M. Sana, M. Iascone, L. Pezzoli, 2012, Gene.

An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene

A. Puliti, R. Bocciardi, M. Iascone, 2022, Birth defects research.

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients

Matteo Bellini, A. Pilotta, D. Milani, 2022, Genes.

Role of Preoperative Cardiovascular Magnetic Resonance in Planning Ventricular Septal Myectomy in Patients With Obstructive Hypertrophic Cardiomyopathy.

P. Bruzzi, A. Mortara, G. Vaccari, 2019, The American journal of cardiology.

Intraoperative Diagnosis of Anderson-Fabry Disease in Patients With Obstructive Hypertrophic Cardiomyopathy Undergoing Surgical Myectomy

F. Pieruzzi, C. Rapezzi, I. Olivotto, 2017, JAMA cardiology.

A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation

M. Sana, A. Spitaleri, L. Quilliam, 2016, PloS one.

A Child With Ichthyosis and Liver Failure

F. Santorelli, A. Buccoliero, M. Donati, 2017, Journal of pediatric gastroenterology and nutrition.

Congenital Muscular Mitral-Aortic Discontinuity Identified in Patients With Obstructive Hypertrophic Cardiomyopathy.

P. Bruzzi, A. Mortara, L. Boni, 2020, Journal of the American College of Cardiology.

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

L. Galletti, O. Zuffardi, A. Vetro, 2012, Clinical genetics.

Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings

E. Agolini, C. Cesaretti, F. Natacci, 2022, Prenatal diagnosis.

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

L. Galletti, L. Pezzani, M. Iascone, 2020, Molecular genetics & genomic medicine.

SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel

D. Milani, L. Pezzani, M. Iascone, 2022, Molecular Syndromology.

Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome.

A. Selicorni, S. Maitz, M. Iascone, 2020, Clinical dysmorphology.

Loss‐of‐Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

N. Ameziane, J. Dorsman, O. Zuffardi, 2015, Human mutation.

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

Matteo Bellini, A. Selicorni, M. Bedeschi, 2021, Journal of cardiovascular development and disease.

Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy

L. Caffi, L. Pezzani, M. Iascone, 2018, American journal of medical genetics. Part A.

A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2

A. Balduzzi, A. Biondi, G. Cazzaniga, 2020, Pediatric hematology and oncology.

Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond‐like syndrome

S. Maitz, A. Biondi, M. Iascone, 2020, British journal of haematology.

Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.

M. Sana, G. Fasolini, F. Fabiani, 2012, Circulation.

[Clinical pathway on pediatric cardiomyopathies: a genetic testing strategy proposed by the Italian Society of Pediatric Cardiology].

F. Girolami, I. Olivotto, G. Limongelli, 2022, Giornale italiano di cardiologia.

L. Calò, R. Mango, F. Sangiuolo, 2023, International journal of molecular sciences.

Sea level in the Mediterranean: a first step towards separating crustal movements and absolute sea-level variations

B. Richter, H. Plag, M. Becker, 1996 .

Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome

F. Fogolari, G. Damante, M. Iascone, 2020, Molecular genetics & genomic medicine.

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy

S. Salani, G. Comi, S. Corti, 2023, European Journal of Human Genetics.

Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation.

M. Sana, F. Fabiani, P. Bianchi, 2012, Circulation.

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Matteo Bellini, A. Selicorni, D. Milani, 2023, Molecular genetics & genomic medicine.