Filippo Maria Panfili

ORCID: 0000-0002-0610-325X
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About
Contact & Profiles
Research Areas
  • Genetics and Neurodevelopmental Disorders
  • Genetic Syndromes and Imprinting
  • Genomics and Rare Diseases
  • Peptidase Inhibition and Analysis
  • Autism Spectrum Disorder Research
  • Congenital heart defects research
  • COVID-19 Clinical Research Studies
  • Wnt/β-catenin signaling in development and cancer
  • COVID-19 and healthcare impacts
  • Mitochondrial Function and Pathology
  • Prenatal Screening and Diagnostics
  • Dermatological and Skeletal Disorders
  • Histiocytic Disorders and Treatments
  • Emergency and Acute Care Studies
  • Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
  • Lipoproteins and Cardiovascular Health
  • Galectins and Cancer Biology
  • Cellular transport and secretion
  • Vitamin C and Antioxidants Research
  • Receptor Mechanisms and Signaling
  • Corneal Surgery and Treatments
  • Respiratory viral infections research
  • Cancer, Lipids, and Metabolism
  • RNA regulation and disease
  • Metabolism and Genetic Disorders

Bambino Gesù Children's Hospital
2022-2024

Istituti di Ricovero e Cura a Carattere Scientifico
2022-2024

University of Rome Tor Vergata
2020-2023

Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused biallelic mutations DHCR24 encoding 3-β-hydroxysterol Δ-24-reductase. regarded as the key enzyme cholesterol synthesis in metabolism brain it catalyzes reduction Δ-24 double bond intermediates during biosynthesis. To date, 15 variants, detected 2 related 14...

10.3389/fgene.2023.1307934 article EN cc-by Frontiers in Genetics 2024-01-04

Abstract Background Malan syndrome (MALNS) is a recently described ultrarare lacking guidelines for diagnosis, management and monitoring of evolutive complications. Less than 90 patients are reported in the literature limited clinical information available to assure proper health surveillance. Results A multidisciplinary team with high expertise MALNS has been launched at “Ospedale Pediatrico Bambino Gesù”, Rome, Italy. Sixteen Italian individuals molecular confirmed diagnosis were enrolled...

10.1186/s13023-022-02384-9 article EN cc-by Orphanet Journal of Rare Diseases 2022-06-18
Manuela Casula Marta Gazzotti Maria Elena Capra Elena Olmastroni Federica Galimberti and 95 more Alberico L. Catapano Cristina Pederiva Adriano Anesi Marcello Arca Renata Auricchio Maurizio Averna Davide Baldera Giuseppe Banderali Guglielmo Beccuti Andrea Benso Martina Berteotti Stefano Bertolini Vanessa Bianconi Giacomo Biasucci Gianni Biolo Luca Bonanni Claudio Borghi Antonio Bossi Adriana Branchi Patrizia Bruzzi Marco Bucci Paola Sabrina Buonuomo Paolo Calabrò S. Calandra Francesca Carubbi Raimondo Cavallaro Angelo Baldassarre Cefalù Arturo Cesaro Francesco Cipollone Nadia Citroni Emanuela Colombo Chiara Coppola Sergio D’Addato Beatrice Dal Pino Edoardo Dalla Nora Giuseppe De Corrado Maria Del Ben Sergio Di Molfetta Maria Donata Di Taranto Giulia Fainelli Massimo Federici Claudio Ferri A.M. Fiorenza Elena Formisano Giuliana Fortunato Andrea Giaccari Francesco Giorgino Liliana Grigore Ornella Guardamagna Marcello Arca Gabriella Iannuzzo Lorenzo Iughetti Salvatore Lia Susanna Longo Alessandro Lupi Giuseppe Mandraffino Rossella Marcucci Lorenzo Maroni Giulia Massini Elisa Mazza Elena Melchioda Giancarla Meregalli Ilenia Minicocci Simona Moffa Giuliana Mombelli Sandro Muntoni Fabio Nascimbeni Emanuele Alberto Negri Serena Notargiacomo Filippo Maria Panfili Gianfranco Parati Angelina Passaro Chiara Pavanello Valerio Pecchioli Lorenzo Pecchioli Fabio Pellegatta Francesco Massimo Perla A. E. Pípolo Salvatore Piro Matteo Pirro Livia Pisciotta Roberta Pujia Carolina Putotto Elena Repetti Elisabetta Rinaldi Alessandra Romandini Elena Sani Silvia Sarnari Riccardo Sarzani Francesco Sbrana Roberto Scicali Michele Scuruchi Patrizia Suppressa Patrizia Tarugi Chiara Trenti

We aimed to describe the limitations of familiar hypercholesterolemia (FH) diagnosis in childhood based on presence typical features FH, such as physical sings cholesterol accumulation and personal or family history premature cardiovascular disease hypercholesterolemia, comparing their prevalence adult paediatric FH population, illustrate how additional information can lead a more effective at younger age.From Italian LIPIGEN cohort, we selected 1188 (≥18 years) 708 (<18...

10.1016/j.atherosclerosis.2023.117231 article EN cc-by Atherosclerosis 2023-08-14

Malan Syndrome (MS) is an ultra-rare overgrowth genetic syndrome due to heterozygous variants or deletions in the Nuclear Factor I X (NFIX) gene. It characterized by unusual facial phenotype, generalized overgrowth, intellectual disability (ID) and behavioral problems. Even though limitations cognitive adaptive functioning have been previously described, systematic studies on MS cohorts are still lacking. Here, we aim define behavior profile of children adolescents, providing quantitative...

10.3390/jcm11144078 article EN Journal of Clinical Medicine 2022-07-14

Introduction Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in NALCN gene (MIM#611549) resulting loss-of-function effect. Methods We enrolled new IHPRF1 patients’ cohort the framework of an international multicentric collaboration study. Using specialized silico pathogenicity predictors ad hoc structural analyses, we...

10.3389/fgene.2024.1477940 article EN cc-by Frontiers in Genetics 2024-12-11

Malan syndrome (MALNS) is an ultra-rare genetic disorder caused by heterozygous chromosomal microdeletions involving the 19p13.2 region or loss-of-function variants in NFIX gene. It characterized specific phenotypical features, intellectual disability (ID), and limitations adaptive functioning behavioral problems. In a previous work, we defined cognitive, adaptive, linguistic visuomotor ability profiles group of 15 MALNS individuals, providing quantitative data from standardized evaluations....

10.3389/frcha.2023.1106228 article EN cc-by Frontiers in Child and Adolescent Psychiatry 2023-02-21

This study aimed to widen the knowledge of a recently identified, autosomal-recessive, multiple congenital anomalies syndrome date observed in only other three children. is second report biallelic mutations MAPKAPK5 whose impairment during human development has been associated with neurological, cardiac, and facial combined fingers toes malformations. Through affected patients' genetic phenotypic features overlap, this confirms as causative gene adds unique neurodevelopmental...

10.1111/cge.14150 article EN Clinical Genetics 2022-05-16

Abstract Background Numerous studies described the epidemiological link and main clinical features of pediatric COVID-19, during first pandemic period. Our study encompasses several different phases since National Lockdown in Italy. The primary outcome is (I) to analyze prevalence positive NST (Nasopharyngeal Swab Test) among largest Italian Pediatric cohort admitted a single regional PED Hub for COVID-19 an eight-month Secondary outcomes are: (II) description trend admissions our (III)...

10.1186/s13052-021-01081-w article EN cc-by ˜The œItalian Journal of Pediatrics/Italian journal of pediatrics 2021-06-02

Abstract Pitt–Hopkins syndrome (PTHS, MIM #610954) is a rare neurodevelopmental disease characterized by the association of intellectual disability, characteristic facial gestalt and episodes abnormal irregular breathing. PTHS due to heterozygous loss‐of‐function variants in TCF4 gene (transcription factor 4, #602272) encoding for basic helix–loop–helix transcription factor. highly expressed during early development nervous system, it involved cellular differentiation proliferation. Since...

10.1002/ajmg.a.61840 article EN American Journal of Medical Genetics Part A 2020-09-18

Abstract Background Ligneous Conjunctivitis (LC) is the most common clinical manifestation of Type I Plasminogen deficiency (T1PD; OMIM# 217090), and it characterized by formation pseudomembranes (due to deposition fibrin) on conjunctivae leading progressive vision loss. In past times, patients with LC were treated surgery, topical anti-inflammatory, cytostatic agents, systemic immunosuppressive drugs limited results (Blood 108:3021-3026, 2006, Ophthalmology 129:955-957, 2022, Surv...

10.1186/s13052-023-01503-x article EN cc-by ˜The œItalian Journal of Pediatrics/Italian journal of pediatrics 2023-08-23

GENERAL COMMENTARY article Front. Genet., 22 December 2023Sec. Genetics of Common and Rare Diseases Volume 14 - 2023 | https://doi.org/10.3389/fgene.2023.1255807

10.3389/fgene.2023.1255807 article EN cc-by Frontiers in Genetics 2023-12-22

Background: Numerous studies described the epidemiological link and main clinical features of pediatric COVID-19, during first pandemic period, while this is study that encompass several different phases National Lockdown in a European country. We effects Containment Measures on positive NST (Nasopharyngeal Swab Test) trend, links largest Italian Pediatric cohort admitted to single regional Emergency Department Hub for an eight-month period.Methods: 316 patients with SARS-CoV2, total 5001...

10.2139/ssrn.3782451 article EN SSRN Electronic Journal 2021-01-01
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