F. Gianfrancesco

发表

A synaptobrevin–like gene in the Xq28 pseudoautosomal region undergoes X inactivation

M. D'Esposito, A. Ciccodicola, F. Gianfrancesco, 1996, Nature Genetics.

Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution.

F. Gianfrancesco, T. Esposito, M. D'urso, 2001, Genome research.

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations

A. Ciccodicola, F. Gianfrancesco, T. Esposito, 2008, Neuroscience.

Novel autophagic vacuolar myopathies: Phenotype and genotype features

F. Gianfrancesco, T. Esposito, G. Limongelli, 2021, Neuropathology and applied neurobiology.

A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease

F. Gianfrancesco, T. Esposito, G. Morello, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women.

F. Gianfrancesco, T. Esposito, P. Strazzullo, 2010, European journal of endocrinology.

The Osteoclast Traces the Route to Bone Tumors and Metastases

F. Gianfrancesco, Sharon Russo, F. Scotto di Carlo, 2022, Frontiers in Cell and Developmental Biology.

Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer

F. Gianfrancesco, A. Cossu, G. Palmieri, 2004, Human mutation.

Genes, diet and uric acid nephrolithiasis

F. Gianfrancesco, T. Esposito, S. Musumeci, 2004 .

Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone.

Jacques P. Brown, F. Gianfrancesco, M. Cancela, 2018, Biochimica et biophysica acta. Molecular basis of disease.

Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function

F. Gianfrancesco, T. Esposito, S. Ralston, 2014, Biochimica et biophysica acta.

Molecular Genetics of Paget's Disease of Bone

F. Gianfrancesco, L. Gennari, D. Merlotti, 2014 .

Paget’s disease of bone: epidemiology, pathogenesis and pharmacotherapy

F. Gianfrancesco, T. Esposito, R. Nuti, 2014 .

Giant cell tumor occurring in familial Paget's disease of bone: Report of clinical characteristics and linkage analysis of a large pedigree

F. Gianfrancesco, T. Esposito, P. Strazzullo, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease

F. Gianfrancesco, T. Esposito, S. Ralston, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Emergence of Talanin protein associated with human uric acid nephrolithiasis in the Hominidae lineage.

F. Gianfrancesco, T. Esposito, R. Roberto, 2004, Gene.

Modulation of Endocannabinoid Tone in Osteoblastic Differentiation of MC3T3-E1 Cells and in Mouse Bone Tissue over Time

F. Gianfrancesco, F. Piscitelli, A. Ligresti, 2021, Cells.

SQSTM1 gene analysis and gene‐environment interaction in Paget's disease of bone

F. Gianfrancesco, T. Esposito, I. Rainero, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone

F. Gianfrancesco, T. Esposito, G. Divisato, 2018, Clinical genetics.

Explorer Clinical Characteristics and Evolution of Giant Cell Tumor Occurring in Paget's Disease of Bone

F. Gianfrancesco, T. Esposito, S. Ralston, 2018 .

Clinical Characteristics and Evolution of Giant Cell Tumor Occurring in Paget's Disease of Bone

F. Gianfrancesco, T. Esposito, S. Ralston, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences

F. Gianfrancesco, T. Esposito, P. Picci, 2017, Oncotarget.

Epidemiological,clinical,andgeneticcharacteristicsofPaget's diseaseofboneinaruralareaofCalabria,SouthernItaly

F. Gianfrancesco, T. Esposito, P. Strazzullo, 2010 .

ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology

F. Gianfrancesco, T. Esposito, A. Franchi, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Vitamin D Receptor Gene Polymorphisms Predict Acquired Resistance to Clodronate Treatment in Patients with Paget’s Disease of Bone

F. Gianfrancesco, T. Esposito, V. D. Paola, 2008, Calcified Tissue International.

Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

F. Gianfrancesco, T. Esposito, G. Iorio, 2017, Journal of Medical Genetics.

A functional allelic variant of the FGF23 gene is associated with renal phosphate leak in calcium nephrolithiasis.

F. Gianfrancesco, T. Esposito, P. Formisano, 2012, The Journal of clinical endocrinology and metabolism.

The two faces of giant cell tumor of bone.

F. Gianfrancesco, M. Whyte, F. Scotto di Carlo, 2020, Cancer letters.

The ZNF687 mutation of Paget’s disease associated with giant cell tumour causes severe bone remodelling alteration as a result of a deregulated osteoclast transcriptional program

F. Gianfrancesco, A. Teti, A. Maurizi, 2022, bioRxiv.

Characterization of the murine orthologue of a novel human subtelomeric multigene family

F. Gianfrancesco, T. Esposito, M. D'urso, 2001, Cytogenetic and Genome Research.

Association of a GRIA3 Gene Polymorphism With Migraine in an Australian Case‐Control Cohort

F. Gianfrancesco, T. Esposito, L. Haupt, 2013, Headache.

ATP1A2 gene mutations are not present in two sisters with basilar-type migraine associated with menses

F. Gianfrancesco, T. Esposito, G. Casucci, 2008, Neurological Sciences.

RAPID REPORT ZPLD1 GENE IS DISRUPTED IN A PATIENT WITH BALANCED TRANSLOCATION THAT EXHIBITS CEREBRAL CAVERNOUS MALFORMATIONS

A. Ciccodicola, F. Gianfrancesco, T. Esposito, 2008 .

Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population

F. Gianfrancesco, T. Esposito, E. Marciano, 2014, Indian Journal of Otolaryngology and Head & Neck Surgery.

Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti

S. Klauck, A. Poustka, A. Ciccodicola, 2000, Nature.

Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region.

M. D'Esposito, A. Ciccodicola, F. Gianfrancesco, 2000, Human molecular genetics.

piR_015520 Belongs to Piwi-Associated RNAs Regulates Expression of the Human Melatonin Receptor 1A Gene

F. Gianfrancesco, T. Esposito, S. Magliocca, 2011, PloS one.

Investigation of Gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility

Teresa Esposito, A. Ciccodicola, F. Gianfrancesco, 2008, BMC Medical Genetics.

Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate.

Mario Falchi, Mario Pirastu, Paola Forabosco, 2003, American journal of human genetics.

A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere.

A. Ciccodicola, F. Gianfrancesco, T. Esposito, 1998, Human molecular genetics.

De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia

F. Gianfrancesco, A. Ciarmiello, F. Squitieri, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Molecular cloning and fine mapping of API5L1, a novel human gene strongly related to an antiapoptotic gene

M. D'Esposito, A. Ciccodicola, F. Gianfrancesco, 1999, Cytogenetic and Genome Research.

A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases.

A. Ciccodicola, F. Gianfrancesco, T. Esposito, 1999, Human molecular genetics.

Escape from X inactivation of two new genes associated with DXS6974E and DXS7020E.

M. D'Esposito, A. Ciccodicola, F. Gianfrancesco, 1997, Genomics.

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone

F. Gianfrancesco, S. Ralston, M. Brandi, 2011, Nature Genetics.

DDX11L: a novel transcript family emerging from human subtelomeric regions

M. D'Esposito, A. Ciccodicola, F. Gianfrancesco, 2009, BMC Genomics.

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

F. Gianfrancesco, T. Esposito, C. Liquori, 2008, Neurogenetics.

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations

F. Gianfrancesco, T. Esposito, C. Liquori, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Identification of sixteen novel candidate genes for late onset Parkinson’s disease

Sonja W. Scholz, Miguel Ángel Martínez, D. Hernandez, 2021, Molecular Neurodegeneration.

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

F. Gianfrancesco, T. Esposito, D. Nyholt, 2013, Human molecular genetics.

Early Alpine occupation backdates westward human migration in Late Glacial Europe

M. D'Esposito, F. Gianfrancesco, F. Montinaro, 2020, Current Biology.

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

S. Klauck, A. Poustka, A. Ciccodicola, 2000, Nature.

Geographic distribution of Ala62Thr variant associated to Uric Acid Nephrolithiasis from Sub-Saharan to Mediterranean area

F. Gianfrancesco, T. Esposito, G. Casu, 2004 .

Genetic Variants of Y Chromosome Are Associated With a Protective Lipid Profile in Black Men

F. Gianfrancesco, T. Esposito, F. Cappuccio, 2008, Arteriosclerosis, thrombosis, and vascular biology.

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

F. Gianfrancesco, T. Esposito, G. Limongelli, 2013, Orphanet Journal of Rare Diseases.

Profilin 1 deficiency drives mitotic defects and reduces genome stability

F. Gianfrancesco, I. Cortés-Ciriano, F. Biamonte, 2023, Communications Biology.

Profilin 1 deficiency drives mitotic defects and impairs genome stability

F. Gianfrancesco, I. Cortés-Ciriano, F. Biamonte, 2022, bioRxiv.

A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene.

F. Gianfrancesco, G. Scarano, P. Russo, 2006, Molecular genetics and metabolism.

Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density

Niamh M. Ryan, Toshiko Tanaka, D. Kiel, 2017, Annals of the rheumatic diseases.

The evolutionary conservation of the human chitotriosidase gene in rodents and primates

F. Gianfrancesco, S. Musumeci, 2004, Cytogenetic and Genome Research.

Bone Turnover and the Osteoprotegerin–RANKL Pathway in Tumor-Induced Osteomalacia: A Longitudinal Study of Five Cases

F. Gianfrancesco, T. Esposito, L. Insabato, 2009, Calcified Tissue International.

ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor

Jacques P. Brown, F. Gianfrancesco, T. Esposito, 2016, American journal of human genetics.

Mesenchymal Stromal Cells: from Bone Marrow to Neoplastic Disorders

F. Gianfrancesco, G. Divisato, Giuseppina Divisato, 2014 .

A mutation in the ZNF687 gene that is responsible for the severe form of Paget’s disease of bone causes severely altered bone remodeling and promotes hepatocellular carcinoma onset in a knock-in mouse model

F. Gianfrancesco, A. Teti, A. Maurizi, 2023, Bone Research.

Comparison of intravenous and intramuscular neridronate regimens for the treatment of paget disease of bone

F. Gianfrancesco, P. Strazzullo, R. Nuti, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Epidemiological, clinical, and genetic characteristics of Paget’s disease of bone in a rural area of Calabria, Southern Italy

F. Gianfrancesco, G. Filippo, L. Gennari, 2010 .

Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN

F. Gianfrancesco, T. Esposito, P. Strazzullo, 2013, Italian Journal of Pediatrics.

Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort

F. Gianfrancesco, T. Esposito, D. Nyholt, 2012, neurogenetics.

Hypovitaminosis D and Organ Damage In Patients With Arterial Hypertension: A Multicenter Double Blind Randomised Controlled Trial of Cholecalciferol Supplementation (HYPODD)

F. Gianfrancesco, M. Volpe, C. Catena, 2015, High Blood Pressure & Cardiovascular Prevention.

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

F. Gianfrancesco, T. Esposito, L. del Viscovo, 2013, Orphanet Journal of Rare Diseases.

Mapping of 59 EST gene markers in 31 intervals spanning the human X chromosome.

C. Auffray, M. D'Esposito, F. Gianfrancesco, 1997, Gene.

The melatonin receptor 1A (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis.

F. Gianfrancesco, T. Esposito, P. Strazzullo, 2012, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Epidemiological, clinical, and genetic characteristics of Paget's disease of bone in a rural area of Calabria, Southern Italy.

F. Gianfrancesco, T. Esposito, P. Strazzullo, 2010, Journal of endocrinological investigation.

Autosomal‐dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation

F. Gianfrancesco, T. Esposito, G. Iorio, 2018, Clinical genetics.

Identification and chromosomal localisation by fluorescence in situ hybridisation of human gene of phosphoinositide-specific phospholipase C beta(1).

F. Gianfrancesco, L. Cocco, A. Billi, 2000, Biochimica et biophysica acta.

The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location

F. Gianfrancesco, T. Esposito, G. Divisato, 2018, BMC Cancer.

Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers

F. Gianfrancesco, T. Esposito, P. Strazzullo, 2017, Journal of Nephrology.

The Molecular Genetics of Migraine: Toward the Identification of Responsible Genes

F. Gianfrancesco, T. Esposito, 2006 .

Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility

F. Gianfrancesco, T. Esposito, L. Griffiths, 2010, BMC Medical Genetics.

Early posterior vitreous detachment is associated with LAMA5 dominant mutation

F. Gianfrancesco, T. Esposito, G. Di Iorio, 2019, Ophthalmic genetics.

Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation

F. Gianfrancesco, T. Esposito, L. Griffiths, 2017, Nephron.

The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location

F. Gianfrancesco, T. Esposito, G. Divisato, 2018, BMC Cancer.

The Loss of Profilin 1 Causes Early Onset Paget's Disease of Bone

F. Gianfrancesco, T. Esposito, L. Pazzaglia, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[Multifactorial disorder: molecular and evolutionary insights of uric acid nephrolithiasis].

F. Gianfrancesco, T. Esposito, 2005, Minerva medica.

Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density

Niamh M. Ryan, D. Kiel, L. Ferrucci, 2018 .

Edinburgh Research Explorer Identification of a novel locus on chromosome 2q13 which predisposes to clinical vertebral fractures independently of bone density

Niamh M. Ryan, D. Kiel, L. Ferrucci, 2022 .