Lista de obras - Fernando Gianfrancesco - Dominio Público Uruguay

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

scientific article published on 14 March 2012

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

artículo científico publicado en 2012

A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease

artículo científico publicado en 2014

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

scientific journal article

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

artículo científico publicado en 1999

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

scientific article published on 04 April 2006

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

artículo científico publicado en 1996

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

artículo científico publicado en 2008

Association of a GRIA3 gene polymorphism with migraine in an Australian case-control cohort.

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Clinical characteristics and evolution of giant cell tumor occurring in Paget's disease of bone.

artículo científico

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

DDX11L: a novel transcript family emerging from human subtelomeric regions

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

article

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

artículo científico publicado en 2001

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

artículo científico publicado en 2000

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Early posterior vitreous detachment is associated with LAMA5 dominant mutation

scientific article published on 27 December 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2004

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

artículo científico publicado en 1997

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

artículo científico publicado en 2016

Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population.

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Genes, diet and uric acid nephrolithiasis

article

Genetic variants of Y chromosome are associated with a protective lipid profile in black men.

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2000

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

Hypovitaminosis D and organ damage in patients with arterial hypertension: a multicenter double blind randomised controlled trial of cholecalciferol supplementation (HYPODD) : study design, clinical procedures and treatment protocol

artículo científico publicado en 2015

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

artículo científico publicado en 2000

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

artículo científico publicado en 2004

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

artículo científico publicado en 2003

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 1997

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

artículo científico publicado en 1999

Multifactorial disorder: molecular and evolutionary insights of uric acid nephrolithiasis

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

scientific article published on 28 January 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2004

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.

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

Vitamin D receptor gene polymorphisms predict acquired resistance to clodronate treatment in patients with Paget's disease of bone.

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2008

piR_015520 belongs to Piwi-associated RNAs regulates expression of the human melatonin receptor 1A gene.

artículo científico publicado en 2011

Lista de obras de Fernando Gianfrancesco

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

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

A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease

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

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

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

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

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

Association of a GRIA3 gene polymorphism with migraine in an Australian case-control cohort.

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

Clinical characteristics and evolution of giant cell tumor occurring in Paget's disease of bone.

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

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

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

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

DDX11L: a novel transcript family emerging from human subtelomeric regions

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

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

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

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

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

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

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

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

Early posterior vitreous detachment is associated with LAMA5 dominant mutation

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

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

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

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

Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population.

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

Genes, diet and uric acid nephrolithiasis

Genetic variants of Y chromosome are associated with a protective lipid profile in black men.

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

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

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

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

Hypovitaminosis D and organ damage in patients with arterial hypertension: a multicenter double blind randomised controlled trial of cholecalciferol supplementation (HYPODD) : study design, clinical procedures and treatment protocol

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

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

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

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

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

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

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

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

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

Multifactorial disorder: molecular and evolutionary insights of uric acid nephrolithiasis

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

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

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

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

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

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.

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

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

Vitamin D receptor gene polymorphisms predict acquired resistance to clodronate treatment in patients with Paget's disease of bone.

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

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

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

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

piR_015520 belongs to Piwi-associated RNAs regulates expression of the human melatonin receptor 1A gene.