A. Fogli

发表

Mutations of Fas (APO-1/CD95) and p53 Genes in Nonmelanoma Skin Cancer

G. Fontanini, L. Boldrini, B. Loggini, 2003, Journal of cutaneous medicine and surgery.

Alterations of Fas (APO-1/CD 95) gene and its relationship with p53 in non small cell lung cancer

C. Angeletti, G. Fontanini, A. Mussi, 2001, Oncogene.

Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly

A. Ballabio, D. Pilz, A. Fogli, 1999, Annals of neurology.

Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency.

F. Baldinotti, A. Fogli, P. Simi, 2008, Journal of andrology.

Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene

C. Marcocci, F. Cetani, A. Fogli, 2022, Frontiers in Endocrinology.

Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion

A. Fogli, P. Simi, M. Corbo, 2014, Case reports in neurological medicine.

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.

F. Baldinotti, A. Fogli, P. Simi, 2010, International journal of pediatric otorhinolaryngology.

The β and γ Subunits of the Human Platelet-Activating Factor Acetyl Hydrolase Isoform Ib (PAFAH1B2 and PAFAH1B3) Map to Chromosome 11q23 and 19q13.1, Respectively

A. Fogli, G. Arrigo, R. Carrozzo, 1998 .

Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia

G. Cioni, G. Cioni, D. Borghetti, 2011, European journal of neurology.

Mutations of Fas (APO-1/CD95) and p53 Genes in Nonmelanoma Skin Cancer

G. Fontanini, L. Boldrini, B. Loggini, 2003 .

Strategies for the isolation and detection of fetal cells in transcervical samples

A. Fogli, P. Simi, R. Cioni, 2002, Prenatal diagnosis.

Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

A. Fogli, T. Mattina, S. Bertelloni, 2017, Molecular Syndromology.

Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes

N. Archidiacono, M. Rocchi, L. Viggiano, 1999, Cytogenetic and Genome Research.

Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey

E. Calzolari, M. Genuardi, A. Ferlini, 2004, Prenatal diagnosis.

Genetic Hearing Loss Associated with Craniofacial Abnormalities

F. Baldinotti, A. Fogli, P. Simi, 2012 .

A new truncating MPZ mutation associated with a very mild CMT1 B phenotype

M. Mancuso, G. Siciliano, F. Baldinotti, 2010, Neuromuscular Disorders.

Identification of BRAF 3'UTR Isoforms in Melanoma.

L. Poliseno, Francesco Russo, E. Capobianco, 2015, The Journal of investigative dermatology.

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.

F. Baldinotti, A. Fogli, P. Simi, 2009, Human Genetics.

Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany

M. Mancuso, U. Bonuccelli, G. Siciliano, 2014, Clinical Neurology and Neurosurgery.

Cx26 gene mutations in idiopathic progressive hearing loss.

G. Siciliano, F. Baldinotti, A. Fogli, 2005, The Journal of otolaryngology.

Identification of Fas (APO-1/CD95) and p53 gene mutations in non-small cell lung cancer.

C. Angeletti, G. Fontanini, A. Mussi, 2002, International journal of oncology.

Amyotrophic lateral sclerosis with long lasting disease course and SOD1 and TARDBP mutations: Report of two cases and overview of the literature

G. Siciliano, A. Fogli, L. Pasquali, 2017, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature

L. Bruschini, A. Fogli, S. Berrettini, 2023, Medicina.

Detection of fetal cells in intrauterine lavage samples collected in the first trimester of pregnancy

A. Fogli, P. Simi, R. Cioni, 2002, Prenatal diagnosis.

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.

F. Baldinotti, A. Fogli, R. Battini, 2009, Human Genetics.

UKCCCR guidelines for the use of cell lines in cancer research

T. Thangarajah, M. Hattori, N. Saitou, 1999, Cytogenetic and Genome Research.

THEME 2 GENETICS AND GENOMICS GEN-01 A case of an uncommon late onset of ALS associated with an undescribed SOD1 mutation GEN-02 A novel mutation in ZFYVE26 gene (c.195-1G > A) in a young man affected by spastic paraplegia

A. Calvo, G. Siciliano, A. Fogli, 2022 .

Theme 02 - Genetics and Genomics

A. Calvo, G. Siciliano, A. Fogli, 2022, Amyotrophic lateral sclerosis & frontotemporal degeneration.