Alfredo Orrico
Siena, Italy
Last Updated: 09/26/2026
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Found 13 publications
Identification of novel potentially causative RYR1 variants in individuals with malignant hyperthermia susceptibility.
Journal: Neuromuscular disorders : NMD
Published: June 24, 2025
Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia.
Journal: Frontiers in genetics
Published: October 05, 2022
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes
Journal: Frontiers in oncology
Published: January 04, 2021
The Variable Expression of a Novel MBD5 Gene Frameshift Mutation in an Italian Family.
Journal: Neuropediatrics
Published: December 29, 2020
Ethical, Legal and Social Issues (ELSI) Associated with Non-Invasive Prenatal Testing: Reflections on the Evolution of Prenatal Diagnosis and Procreative Choices.
Journal: Genes
Published: December 09, 2020
Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.
Journal: Biomedicines
Published: November 17, 2020
The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.
Journal: Genetics research
Published: July 30, 2020
Complete clinical and functional recovery following low-dose methotrexate related paraparesis in a patient with compound c.1298A>C AND c.677C>T MTHFR polymorphism: A case report.
Journal: Medicine
Published: December 14, 2018
PEDIA: prioritization of exome data by image analysis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 13, 2018
Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature.
Journal: International journal of fertility & sterility
Published: August 09, 2014
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.
Journal: European journal of human genetics : EJHG
Published: April 30, 2014
Last Updated: 09/26/2026