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A. Fogli · SciRah

Researcher profile · Semantic Scholar

A. Fogli

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A. Fogli — researcher profile on SciRah

h-index: 12
Works: 38
Citations: 395

Most-cited papers

Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly
A. Fogli, R. Guerrini, F. Moro, E. Fernández-Álvarez +8 more
1999Annals of Neurology54 citations
Semantic Scholar
Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency.
F. Baldinotti, S. Majore, A. Fogli, G. Marrocco +9 more
2008Journal of Andrology47 citations Open access
Semantic Scholar
Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia
R. Battini, A. Fogli, D. Borghetti, A. Michelucci +6 more
2011European Journal of Neurology32 citations
Semantic Scholar
Strategies for the isolation and detection of fetal cells in transcervical samples
C. Bussani, R. Cioni, B. Scarselli, F. Barciulli +4 more
2002Prenatal Diagnosis29 citations
Semantic Scholar
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany.
D. Orsucci, L. Petrucci, E. C. Ienco, L. Chico +11 more
2014Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)28 citations
Semantic Scholar
Alterations of Fas (APO-1/CD 95) gene and its relationship with p53 in non small cell lung cancer
L. Boldrini, P. Faviana, F. Pistolesi, S. Gisfredi +9 more
2001Oncogene26 citations Open access
Semantic Scholar
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey
A. Sensi, S. Cavani, N. Villa, M. Pomponi +19 more
2004Prenatal Diagnosis24 citations
Semantic Scholar
Identification of Fas (APO-1/CD95) and p53 gene mutations in non-small cell lung cancer.
L. Boldrini, P. Faviana, S. Gisfredi, D. Di Quirico +9 more
2002International Journal of Oncology19 citations
Semantic Scholar
Detection of fetal cells in intrauterine lavage samples collected in the first trimester of pregnancy
R. Cioni, C. Bussani, B. Scarselli, F. Barciulli +4 more
2002Prenatal Diagnosis19 citations
Semantic Scholar
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation
V. Bertini, A. Fogli, R. Bruno, A. Azzarà +4 more
2017Molecular Syndromology16 citations Open access
Semantic Scholar
Cx26 gene mutations in idiopathic progressive hearing loss.
F. Ravecca, S. Berrettini, F. Forli, M. Marcaccini +5 more
2005The Journal of Otolaryngology15 citations
Semantic Scholar
Identification of BRAF 3'UTR Isoforms in Melanoma.
Andrea Marranci, Andrea Tuccoli, M. Vitiello, Elisa Mercoledi +12 more
2015Journal of Investigative Dermatology14 citations Open access
Semantic Scholar
Mutations of Fas (APO-1/CD95) and p53 Genes in Nonmelanoma Skin Cancer
L. Boldrini, B. Loggini, S. Gisfredi, Y. Zucconi +8 more
2003Journal of Cutaneous Medicine and Surgery12 citations
Semantic Scholar
UKCCCR guidelines for the use of cell lines in cancer research
M. Okano, S. Takebayashi, K. Okumura, E. Li +226 more
1999Cytogenetic and Genome Research11 citations Open access
Semantic Scholar
Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of the WNT1 gene
M. C. Campopiano, A. Fogli, A. Michelucci, L. Mazoni +9 more
2022Frontiers in Endocrinology8 citations Open access
Semantic Scholar
Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.
A. Michelucci, P. Ghirri, Paola Iacopetti, M. E. Conidi +9 more
2010International Journal of Pediatric Otorhinolaryngology8 citations
Semantic Scholar
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes
A. Fogli, S. Giglio, G. Arrigo, C. Nigro +6 more
1999Cytogenetic and Genome Research7 citations
Semantic Scholar
Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature
F. Forli, Silvia Capobianco, S. Berrettini, L. Bruschini +4 more
2023Medicina6 citations Open access
Semantic Scholar
Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion
L. Tremolizzo, G. Sala, E. Conti, V. Rodriguez-Menendez +7 more
2014Case Reports in Neurological Medicine6 citations Open access
Semantic Scholar
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
F. Moro, G. Arrigo, A. Fogli, L. Bernard +1 more
19984 citations
Semantic Scholar
A new truncating MPZ mutation associated with a very mild CMT1 B phenotype.
S. Piazza, F. Baldinotti, A. Fogli, M. E. Conidi +5 more
2010Neuromuscular Disorders3 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
A. Fogli, R. Battini, F. Baldinotti, M. Angela +2 more
2009Human Genetics3 citations
Semantic Scholar
Bone mineral density in young women with complete androgen insensitivity syndrome . The AISIA study : preliminary data
E. Dati, S. Bertelloni, G. Baroncelli, F. Baldinotti +3 more
20102 citations
Semantic Scholar
Mutations of Fas (APO-1/CD95) and p53 Genes in Nonmelanoma Skin Cancer
L. Boldrini, B. Loggini, S. Gisfredi, Y. Zucconi +8 more
20032 citations
Semantic Scholar
Amyotrophic lateral sclerosis with long lasting disease course and SOD1 and TARDBP mutations: Report of two cases and overview of the literature
Cinzia Lucchesi, Elena Caldarazzo Ienco, M. Fabbrini, L. Pasquali +3 more
2017Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration1 citations
Semantic Scholar
Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
Gianluigi Laccetta, B. Toschi, A. Fogli, V. Bertini +2 more
2015Case Reports in Pediatrics1 citations Open access
Semantic Scholar
Theme 02 - Genetics and Genomics
L. Becattini, F. Bianchi, L. Fontanelli, A. Fogli +15 more
2022Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration0 citations Open access
Semantic Scholar
Two contrasting clinical manifestations of amyotrophic lateral sclerosis (ALS) related to FUS mutations
F. Bianchi, Lorenzo Fontanelli, A. Galgani, L. Becattini +2 more
2021Journal of Neurological Sciences0 citations
Semantic Scholar
Symptomatic C9ORF72 mutation in non-fluent aphasia without neuroimaging signs of cerebral atrophy: A case study
Lorenzo Fontanelli, F. Bianchi, A. Galgani, D. Frosini +3 more
2021Journal of Neurological Sciences0 citations
Semantic Scholar
Genetic Hearing Loss Associated with Craniofacial Abnormalities
S. Lunardi, F. Forli, A. Michelucci, Annalisa Liumbruno +9 more
20120 citations Open access
Semantic Scholar
ALS genocopy due to co-existence of spastin mutation and SMN2 deletion? A 12 months open label trial with valproic acid
L. Tremolizzo, G. Sala, E. Conti, R. Menendez +5 more
20120 citations
Semantic Scholar
Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
A. Fogli, R. Battini, F. Baldinotti, M. E. Conidi +2 more
2009Human Genetics0 citations
Semantic Scholar
Nonsense mutation in exon 2 of the alpha-galactosidase A gene in a patient with Fabry disease.
E. Manni, A. Fogli, F. Baldinotti, S. Rossi +3 more
2001Contributions to Nephrology0 citations
Semantic Scholar
Nonsense Mutation in Exon 2 of the α-Galactosidase A Gene in a Patient with Fabry Disease
E. Manni, A. Fogli, F. Baldinotti, S. Rossi +3 more
20010 citations
Semantic Scholar
Contents Vol. 86, 1999
M. Okano, S. Takebayashi, K. Okumura, E. Li +226 more
1999Cytogenetic and Genome Research0 citations
Semantic Scholar
Subject Index Vol. 86, 1999
M. Okano, S. Takebayashi, K. Okumura, E. Li +226 more
1999Cytogenetic and Genome Research0 citations
Semantic Scholar
The beta and gamma subunits of the human platelet-activating factor acetyl hydrolase isoform Ib (PAFAH1B2 and PAFAH1B3) map to chromosome 11q23 and 19q13.1, respectively.
F. Moro, G. Arrigo, A. Fogli, L. Bernard +1 more
1998Genomics0 citations
Semantic Scholar
[Contribution of microlaryngoscopy to the detection of precancerous states and beginning laryngeal cancers].
A. Pech, Y. Borrot, S. Cahier, J. M. Lisbonis +1 more
1971Journal francais d'oto-rhino-laryngologie, audio-phonologie et chirurgie maxillo-faciale0 citations
Semantic Scholar

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