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Identification and chromosomal localisation by fluorescence in situ hybridisation of human gene of phosphoinositide-specific phospholipase C beta(1)Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate.Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMNInvestigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibilityDifferentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal regionGenomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) ConsortiumEscape from X inactivation of two new genes associated with DXS6974E and DXS7020EA synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivationEmergence of Talanin protein associated with human uric acid nephrolithiasis in the Hominidae lineageDigenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathyGenome-wide association identifies three new susceptibility loci for Paget's disease of bone.Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and functionDDX11L: a novel transcript family emerging from human subtelomeric regionsCommon variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility.Molecular cloning and fine mapping of API5L1, a novel human gene strongly related to an antiapoptotic gene.piR_015520 belongs to Piwi-associated RNAs regulates expression of the human melatonin receptor 1A gene.Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.Mapping of 59 EST gene markers in 31 intervals spanning the human X chromosome.Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibshipClinical characteristics and evolution of giant cell tumor occurring in Paget's disease of bone.Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers.A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease.ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.The evolutionary conservation of the human chitotriosidase gene in rodents and primates.Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer.Exclusion of TNFRSF11B as Candidate Gene for Otosclerosis in Campania Population.De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences.De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree.Vitamin D receptor gene polymorphisms predict acquired resistance to clodronate treatment in patients with Paget's disease of bone.Genetic variants of Y chromosome are associated with a protective lipid profile in black men.Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density.[Multifactorial disorder: molecular and evolutionary insights of uric acid nephrolithiasis].Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone.Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease.
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description
hulumtues
@sq
researcher
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wetenschapper
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հետազոտող
@hy
name
Fernando Gianfrancesco
@ast
Fernando Gianfrancesco
@en
Fernando Gianfrancesco
@es
Fernando Gianfrancesco
@nl
Fernando Gianfrancesco
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type
label
Fernando Gianfrancesco
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Fernando Gianfrancesco
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Fernando Gianfrancesco
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Fernando Gianfrancesco
@nl
Fernando Gianfrancesco
@sl
prefLabel
Fernando Gianfrancesco
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Fernando Gianfrancesco
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Fernando Gianfrancesco
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Fernando Gianfrancesco
@nl
Fernando Gianfrancesco
@sl
P106
P21
P31
P496
0000-0002-3812-2471