P. Ciotti

发表

High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.

A. Goldstein, P. Queirolo, B. Pasini, 2002, American journal of medical genetics.

A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.

J. Struewing, M. Tucker, A. Goldstein, 2000, American journal of human genetics.

Does parkin play a role in the peripheral nervous system? A family report

G. Abbruzzese, R. Marchese, E. Bellone, 2004, Movement disorders : official journal of the Movement Disorder Society.

Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: Findings in an Italian cohort of patients with Parkinsonian syndromes and relevance for genetic counselling

G. Abbruzzese, R. Marchese, E. Bellone, 2013, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Linkage exclusion in Italian families with hereditary essential tremor

P. Barone, T. Pippucci, G. Abbruzzese, 2011, European journal of neurology.

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies

P. Fossa, A. Geroldi, E. Bellone, 2009, European Journal of Human Genetics.

Characterization of ligurian melanoma families and risk of occurrence of other neoplasia

P. Bruzzi, P. Queirolo, P. Ghiorzo, 1999, International journal of cancer.

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease

A. Geroldi, E. Bellone, M. Grandis, 2008, Journal of Human Genetics.

Contribution of copy number variations in CMT1X: a retrospective study

A. Geroldi, E. Bellone, A. Schenone, 2015, European journal of neurology.

Cytokine expression in human primary and metastatic melanoma cells: analysis in fresh bioptic specimens

G. Bianchi‐Scarrǎ, P. Ciotti, M. Rainero, 1995, Melanoma research.

An upstream positive regulatory element in human GM-CSF promoter is recognized by NF-kappa B/Rel family members.

R. Ravazzolo, R. Giuffrida, M. Musso, 1996, Biochemical and biophysical research communications.

Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post‐mortem genetic analysis of tissue specimens

E. Bellone, R. Fiocca, P. Mandich, 2011, American journal of medical genetics. Part A.

Characterization of a triplex DNA-binding protein encoded by an alternative reading frame of loricrin.

M. V. Van Dyke, M. Musso, G. Bianchi‐Scarrǎ, 2001, European journal of biochemistry.

Germline mutations in the von Hippel-Lindau gene in Italian patients.

A. Ballestrero, E. Bellone, P. Mandich, 2009, European journal of medical genetics.

No evidence of association between BDNF gene variants and age-at-onset of Huntington's disease

G. Abbruzzese, G. Novelli, E. Bellone, 2006, Neurobiology of Disease.

HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients

P. Fossa, A. Geroldi, E. Bellone, 2011, Journal of the peripheral nervous system : JPNS.

Reliability and Reproducibility of a RNA Preamplification Method for Low-density Array Analysis From Formalin-fixed Paraffin-embedded Breast Cancer Samples

A. Ballestrero, E. Bellone, P. Mandich, 2009, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients

M. Sormani, A. Goldstein, P. Queirolo, 2004, Melanoma research.

A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot–Marie–Tooth disease

L. Padua, A. Geroldi, E. Bellone, 2014, Journal of the Neurological Sciences.

DRD3 Ser9Gly variant is not associated with essential tremor in a series of Italian patients

P. Barone, L. Avanzino, G. Abbruzzese, 2008, European journal of neurology.

Friedreich’s Ataxia: A New Mutation in Two Compound Heterozygous Siblings with Unusual Clinical Onset

E. Bellone, A. Schenone, P. Mandich, 2009, European Neurology.

Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.

E. Bellone, P. Mandich, P. Ciotti, 2004, The Journal of molecular diagnostics : JMD.

Severe Neuropathy After Diphtheria-Tetanus-Pertussis Vaccination in a Child Carrying a Novel Frame-Shift Mutation in the Small Heat-Shock Protein 27 Gene

A. Pizzuti, A. Geroldi, E. Bellone, 2010, Journal of child neurology.

Familial melanoma and pancreatic cancer. Ligurian Skin Tumor Study Group.

G. Bianchi‐Scarrǎ, P. Ciotti, P. Strigini, 1996, The New England journal of medicine.

Intercellular adhesion molecule-1 (ICAM-1) and granulocyte-macrophage colony stimulating factor (GM-CSF) co-expression in cutaneous malignant melanoma lesions.

G. Mela, G. Bianchi‐Scarrǎ, P. Ciotti, 1999, Melanoma research.

Common mutations in the LRRK2 exon 41 are not responsible for essential tremor in Italian patients.

P. Barone, G. Abbruzzese, E. Bellone, 2009, Parkinsonism & related disorders.

Common mutations in the LRRK2 exon 41 are not responsible for essential tremor in Italian patients.

E. Bellone, C. Vitale, P. Mandich, 2009, Parkinsonism & related disorders.