Enrica Marchionni

Pubblicazioni

Titolo Pubblicato in Anno
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis EUROPEAN JOURNAL OF HUMAN GENETICS 2024
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2023
Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility BIOMEDICINES 2023
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region GENES 2023
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis DIAGNOSTICS 2022
Critical prenatal diagnosis and management of incidental exon 43-44 deletion in the dystrophin gene EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY 2022
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations BONE 2021
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2021
X-linked dominant RPGR gene mutation in a familial Coats angiomatosis BMC OPHTHALMOLOGY 2021
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review DIAGNOSTICS 2021
Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings EUROPEAN JOURNAL OF MEDICAL GENETICS 2021
External hydrocephalus as a prenatal feature of Noonan Syndrome ANNALS OF HUMAN GENETICS 2021
Incidental SOS1 variant identified by non-invasive prenatal screening: Prenatal diagnosis and family clinical reassessment EUROPEAN JOURNAL OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE BIOLOGY 2021
Tlr4 t399i polymorphism and endometriosis in a cohort of italian women DIAGNOSTICS 2020
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 MOLECULAR GENETICS & GENOMIC MEDICINE 2020
Uniparental disomy of chromosome 16: a case report with a new cardiac malformation Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters EUROPEAN JOURNAL OF HUMAN GENETICS 2020
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. MOLECULAR GENETICS & GENOMIC MEDICINE 2019
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease NEURODEGENERATIVE DISEASES 2019
Kif1c variants are associated with hypomyelination, ataxia, tremor, and dystonia in fraternal twins TREMOR AND OTHER HYPERKINETIC MOVEMENTS 2019
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE 2017

ERC

  • LS2_1
  • LS2_3
  • LS2_5
  • LS2_14
  • LS5
  • LS5_11

KET

  • Life-science technologies & biotechnologies

Progetti di Ricerca

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