MP
marzia pollazzon
Azienda Sanitaria Unità Locale di Reggio Emilia
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders · Genomic variations and chromosomal abnormalities
0000-0002-9865-0751
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Publications (54)
- A novel heterozygous CPA1 variant (p.Tyr275His) associated with hereditary pancreatitis susceptibility in a familial cluster Save
- Phenotypic Heterogeneity in Titinopathies with Peripheral Nerve Involvement in Pediatric Age: Two Case Reports Save
- A Boy with a Novel Variant in TCF20: An Expanded Phenotype and a Brief Review of the Literature Save
- Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf–Hirschhorn Syndrome Save
- Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles Save
- ‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’ Save
- Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders Save
- Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature Save
- Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings Save
- Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes Save
- Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures Save
- Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage Save
- Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review Save
- Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness Save
- Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology Save
- MCPH1: A Novel Case Report and a Review of the Literature Save
- Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features Save
- Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis Save
- Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum Save
- Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature Save