M. Valiante

发表

A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report

I. Bottillo, A. Paiardini, P. Grammatico, 2022, Genes.

P. Grammatico, S. Majore, F. C. Radio, 2014, Blood cells, molecules & diseases.

A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome.

I. Bottillo, A. Paiardini, R. Sestini, 2020, Dermatology online journal.

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.

N. Fleischer, I. Bottillo, P. Grammatico, 2020, European journal of medical genetics.

Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

A. Pizzuti, M. Castori, P. Grammatico, 2013, European Journal of Medical Genetics.

Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.

F. Polticelli, S. Di Bartolomeo, P. Grammatico, 2018, Biochimica et biophysica acta. Molecular basis of disease.

A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes

I. Bottillo, A. Paiardini, P. Grammatico, 2020, International journal of molecular sciences.

Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers‐Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees

M. Venturini, P. Calzavara-Pinton, M. Castori, 2014, American journal of medical genetics. Part A.

I. Bottillo, P. Grammatico, B. Grammatico, 2022, European Journal of Human Genetics.

Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling

E. Colombo, P. Grammatico, A. Orro, 2023, International journal of molecular sciences.

Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes

G. Scagliotti, G. Matullo, F. Grosso, 2018, Genes, chromosomes & cancer.

Clinical presentation and molecular characterization of a novel patient with variant POC1A‐related syndrome

L. Micale, E. Agolini, A. Novelli, 2020, Clinical genetics.

Palmoplantar keratoderma, pseudo‐ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma‐congenital alopecia syndrome

M. Castori, M. Ritelli, P. Grammatico, 2010, American journal of medical genetics. Part A.

Elsahy–Waters syndrome: Evidence for autosomal recessive inheritance

R. Hennekam, P. Cascone, M. Castori, 2010, American journal of medical genetics. Part A.

[Genetics and epigenetics of schizophrenia].

A. Fusco, R. Celli, M. Valiante, 2013, La Clinica terapeutica.

Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers‐Danlos syndrome, hypermobility type

M. Venturini, P. Calzavara-Pinton, M. Castori, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

A Novel CHEK2 Variant Identified by Next-Generation Sequencing in an Italian Family with Li-Fraumeni Syndrome: Case Report

M. Rinelli, E. Agolini, A. Novelli, 2022, SN Comprehensive Clinical Medicine.

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene

I. Bottillo, E. Agolini, A. Novelli, 2019, Psychiatric genetics.

Palmoplantar keratoderma, pseudo‐ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma‐congenital alopecia syndrome

M. Castori, M. Ritelli, P. Grammatico, 2010, American journal of medical genetics. Part A.

Familial melanoma and multiple primary melanoma.

P. De Simone, V. Silipo, M. Valiante, 2017, Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia.