Lista de obras -

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.

artículo científico publicado en 2012

A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2

article by Cristiana Lo Nigro et al published October 2000 in European Journal of Human Genetics

ADA2 deficiency due to a novel structural variation in 22q11.1.

scientific article published on 28 March 2019

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

scientific journal article

Complete genome sequence of chloroplast DNA (cpDNA) of Chlorella sorokiniana.

artículo científico publicado en 2014

Complete genome sequence of mitochondrial DNA (mtDNA) of Chlorella sorokiniana

artículo científico publicado en 2014

Complete sequence and characterization of mitochondrial and chloroplast genome of Chlorella variabilis NC64A.

artículo científico publicado en 2015

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome

artículo científico publicado en 2003

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity

artículo científico publicado en 2002

Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia.

artículo científico publicado en 2005

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

artículo científico publicado en 2001

Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis

artículo científico publicado en 2020

Fontaine-farriaux craniosynostosis: Second report in the literature

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

artículo científico publicado en 2002

Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.

artículo científico publicado en 2003

Genetic variants of TAS2R38 bitter taste receptor associate with distinct gut microbiota traits in Parkinson's disease: A pilot study

scientific article published on 15 September 2020

Genetic variants regulating immune cell levels in health and disease.

artículo científico publicado en 2013

Gut Microbiota and Metabolome Alterations Associated with Parkinson's Disease

scientific article published on 15 September 2020

Gut microbiota and metabolome distinctive features in parkinson disease: Focus on levodopa and levodopa carbidopa intrajejunal gel

artículo científico publicado en 2020

HLA-G molecules and clinical outcome in Chronic Myeloid Leukemia

artículo científico publicado en 2017

HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders

artículo científico publicado en 2002

Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma

article

Impact of a Moderately Hypocaloric Mediterranean Diet on the Gut Microbiota Composition of Italian Obese Patients

artículo científico publicado en 2020

KIR and their HLA Class I ligands: Two more pieces towards completing the puzzle of chronic rejection and graft loss in kidney transplantation

artículo científico publicado en 2017

Linkage analysis in families with recurrent neuroblastoma

artículo científico publicado en 2002

Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny

artículo científico publicado en 2013

MYH9-Related Disease

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

artículo científico publicado en 2003

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

artículo científico publicado en 2015

Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome

artículo científico publicado en 2006

Novel MC1R variants in Ligurian melanoma patients and controls.

artículo científico publicado en 2004

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation

artículo científico publicado en 2016

Overexpression of the Cytokine BAFF and Autoimmunity Risk

artículo científico publicado en 2017

Population- and individual-specific regulatory variation in Sardinia.

artículo científico publicado en 2017

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

artículo científico publicado en 2003

The first intron of the human osteopontin gene contains a C/EBP-beta-responsive enhancer

artículo científico publicado en 2003

Weak linkage at 4p16 to predisposition for human neuroblastoma

artículo científico publicado en 2002

Lista de obras de

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.

A refined physical and transcriptional map of the SPG9 locus on 10q23.3–q24.2

ADA2 deficiency due to a novel structural variation in 22q11.1.

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Complete genome sequence of chloroplast DNA (cpDNA) of Chlorella sorokiniana.

Complete genome sequence of mitochondrial DNA (mtDNA) of Chlorella sorokiniana

Complete sequence and characterization of mitochondrial and chloroplast genome of Chlorella variabilis NC64A.

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity

Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia.

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis

Fontaine-farriaux craniosynostosis: Second report in the literature

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.

Genetic variants of TAS2R38 bitter taste receptor associate with distinct gut microbiota traits in Parkinson's disease: A pilot study

Genetic variants regulating immune cell levels in health and disease.

Gut Microbiota and Metabolome Alterations Associated with Parkinson's Disease

Gut microbiota and metabolome distinctive features in parkinson disease: Focus on levodopa and levodopa carbidopa intrajejunal gel

HLA-G molecules and clinical outcome in Chronic Myeloid Leukemia

HOX11L1: a promoter study to evaluate possible expression defects in intestinal motility disorders

Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma

Impact of a Moderately Hypocaloric Mediterranean Diet on the Gut Microbiota Composition of Italian Obese Patients

KIR and their HLA Class I ligands: Two more pieces towards completing the puzzle of chronic rejection and graft loss in kidney transplantation

Linkage analysis in families with recurrent neuroblastoma

Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny

MYH9-Related Disease

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome

Novel MC1R variants in Ligurian melanoma patients and controls.

Novel action of FOXL2 as mediator of Col1a2 gene autoregulation

Overexpression of the Cytokine BAFF and Autoimmunity Risk

Population- and individual-specific regulatory variation in Sardinia.

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability.

The first intron of the human osteopontin gene contains a C/EBP-beta-responsive enhancer

Weak linkage at 4p16 to predisposition for human neuroblastoma