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List of works by Liborio Stuppia

16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer.

scientific article published on 3 February 2012

A Neural "Tuning Curve" for Multisensory Experience and Cognitive-Perceptual Schizotypy.

scientific article published on 7 February 2017

A new case of "de novo" BRCA1 mutation in a patient with early-onset breast cancer

scientific article published on 28 January 2017

A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man.

scientific article

A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome

scientific article published in March 2004

A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient

scientific article

A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11

scientific article published on 01 May 1998

A restricted spectrum of NRAS mutations causes Noonan syndrome

scientific article

A variant on promoter of the cannabinoid receptor 1 gene (CNR1) moderates the effect of valence on working memory.

scientific article

Acute effects of modafinil on brain resting state networks in young healthy subjects

scientific article (publication date: 2013)

Age-Dependent Modifications of AMPA Receptor Subunit Expression Levels and Related Cognitive Effects in 3xTg-AD Mice

scientific article

Aging and the Combined effects of ADRA2B and CB1 deletions on Affective Working Memory

scientific article published on 11 March 2019

Amniotic Fluid Stem Cells: A Novel Source for Modeling of Human Genetic Diseases

scientific article

Amniotic fluid as a rich source of mesenchymal stromal cells for transplantation therapy

scientific article published on 5 November 2010

Amniotic fluid stem cell models: A tool for filling the gaps in knowledge for human genetic diseases

Amniotic fluid stem cells: a promising therapeutic resource for cell-based regenerative therapy

scientific article published on January 2012

An epigenetic approach to pancreatic cancer treatment: the prospective role of histone deacetylase inhibitors

scientific article published on May 2012

Application of MLPA assay to characterize unsolved α-globin gene rearrangements

scientific article

Artificial Neural Network to Predict Varicocele Impact on Male Fertility through Testicular Endocannabinoid Gene Expression Profiles

article

Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring

scientific article

Associations between the antioxidant network and emotional intelligence: a preliminary study

scientific article

Autosomal dominant distal spinal muscular atrophy: an Italian family not linked to 12q24 and 7p14.

scientific article published in January 2002

BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene

scientific article published on 01 August 2016

Butyrylcholinesterase and Acetylcholinesterase polymorphisms in Multiple Sclerosis patients: implication in peripheral inflammation.

scientific article

C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy

scientific article

Cardiomyocytes Derived from Human Amniotic Fluids

scientific article published in Scientific Reports

Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts (RAEB)

scientific article published on 01 September 2003

Chromosome changes in 19 patients with Waldenström's macroglobulinemia

scientific article published on 01 December 1987

Chromosome mapping of the human arrestin (SAG), beta-arrestin 2 (ARRB2), and beta-adrenergic receptor kinase 2 (ADRBK2) genes

scientific article

Chromosome mapping of the rat phospholipase C β1gene

article

Chromosome spread for confocal microscopy

scientific article published on 01 January 1999

Combined fluorescence in situ hybridization and PRINS for the analysis of the Dystrophin gene

scientific article published in January 2006

Combined use of PRINS and FISH in the study of the dystrophin gene

article

Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: a retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer.

scientific article published on 8 December 2016

Complete sequence of human mitochondrial DNA obtained by combining multiple displacement amplification and next-generation sequencing on a single oocyte

scientific article published on 24 February 2016

Complex chromosome translocations of standard t(8;21) and t(15;17) arise from a two-step mechanism as evidenced by fluorescence in situ hybridization analysis

scientific article published on 01 October 1996

Complex translocations of the Ph chromosome and Ph negative CML arise from similar mechanisms, as evidenced by FISH analysis

scientific article published on December 1994

Correction: Transcriptome-Based Identification of New Anti-Anti-Inflammatory and Vasodilating Properties of the n-3 Fatty Acid Docosahexaenoic Acid in Vascular Endothelial Cell Under Proinflammatory Conditions

scientific article published on 14 April 2016

Correlation between apoptosis and TP53 status in osteosarcoma

scientific article published on 01 September 1998

Cyclooxygenase-1 haplotype C50T/A-842G does not affect platelet response to aspirin

scientific article published in April 2009

Cytogenetic survey of 31 patients treated with bone marrow transplantation for acute nonlymphocytic and acute lymphoblastic leukemias

scientific article published on 01 February 1991

Cytogenetic survey of 80 patients with acute nonlymphocytic leukemia

scientific article published on 01 March 1992

Cytogenetics and bone marrow transplantation

scientific article published on 01 March 1986

Cytogenetics in patients with chronic myelogenous leukemia treated with bone marrow transplantation

scientific article published on 01 August 1989

DNMT3B promoter polymorphisms and maternal risk of birth of a child with Down syndrome.

scientific article

De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects.

scientific article published in July 2013

Deregulation of Sertoli and Leydig cells function in patients with Klinefelter syndrome as evidenced by testis transcriptome analysis

Deregulation of sertoli and leydig cells function in patients with Klinefelter syndrome as evidenced by testis transcriptome analysis

scientific article

Detection of minimal residual disease by polymerase chain reaction in patients with different hematologic diseases treated by bone marrow transplantation.

scientific article

Difficulty describing feelings and post-traumatic symptoms after a collective trauma in survivors of L'Aquila earthquake.

scientific article published on June 2015

Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy.

scientific article published in April 2003

Early Subclinical Atherosclerosis in Gestational Diabetes: The Predictive Role of Routine Biomarkers and Nutrigenetic Variants

scientific article published on 24 December 2018

Early and sustained altered expression of aging-related genes in young 3xTg-AD mice

scientific article published on 13 February 2014

Effects of toll-like receptor-4 gene polymorphisms on soluble P-selectin and von Willebrand factor levels in hypercholesterolemic patients

scientific article published on 01 September 2007

Epidermal growth factor promotes a neural phenotype in thymic epithelial cells and enhances neuropoietic cytokine expression.

scientific article

Epigenetics and human reproduction: the primary prevention of the noncommunicable diseases

scientific article published on 01 September 2019

Epigenetics and male reproduction: the consequences of paternal lifestyle on fertility, embryo development, and children lifetime health

scientific article

FISH analysis in detecting 9p duplication (p22p24).

scientific article published on January 2000

Familial idiopathic hyper-CK-emia: an underrecognized condition.

scientific article published in June 2006

Fat mass and obesity-associated gene (FTO) is associated to eating disorders susceptibility and moderates the expression of psychopathological traits

scientific article

Fetal detection of dup 9p11-12

scientific article published on 01 December 1994

Fluorescence in situ hybridization analysis of minimal residual disease and the relevance of the der(9) deletion in imatinib-treated patients with chronic myeloid leukemia

scientific article published on 01 July 2006

Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women

scientific article published on 01 May 2006

Gene expression modifications in Wharton's Jelly mesenchymal stem cells promoted by prolonged in vitro culturing

scientific article

Gene expression profiles of cumulus cells obtained from women treated with recombinant human luteinizing hormone + recombinant human follicle-stimulating hormone or highly purified human menopausal gonadotropin versus recombinant human follicle-stim

scientific article

Genetic determinants of blood pressure responses to caffeine drinking

scientific article published on 14 December 2011

Genetic determinants of cognitive responses to caffeine drinking identified from a double-blind, randomized, controlled trial.

scientific article published on 16 March 2015

Genetic testing in couples undergoing assisted reproduction technique protocols.

scientific article published on 29 July 2009

Genetics of syndromic and nonsyndromic cleft lip and palate

scientific article published on September 2011

Genital sanguineous discharge in prepuberty: a case of mullerian papilloma of vagina in a nine-year-old girl

scientific article published on 01 August 2010

Genomic organization, physical mapping, and involvement in Yq microdeletions of the VCY2 (BPY 2) gene

scientific article published in March 2001

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

scientific article

Gonadotropin treatment of an azoospermic patient with a Y-chromosome microdeletion

scientific article published on 01 July 2004

Heterochromatic polymorphisms of chromosome 16 evidenced by Alu I endonuclease digestion in chronic myelogenous leukemia

scientific article published on 01 May 1989

High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability

scientific article published on 01 June 2007

Human height genes and cancer.

scientific article published on 19 February 2013

Human immunodeficiency virus type 1 tat protein modulates fibronectin expression in thymic epithelial cells and impairs in vitro thymocyte development.

scientific article published on February 1996

Human second trimester amniotic fluid cells are able to create embryoid body-like structures in vitro and to show typical expression profiles of embryonic and primordial germ cells

scientific article published on 29 January 2014

Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay

scientific article

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

scientific article

Identification in chromosome 8q11 of a region of homology with the g1 amplicon of the Y chromosome and functional analysis of the BEYLA gene

scientific article published on 01 February 2005

Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis

scientific article published in June 2004

Identification of a novel mutation in the SRY gene in a 46, XY female patient

scientific article published on 17 April 2006

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

scientific article published on 20 April 2005

Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols

scientific article published on 26 July 2010

Impact of lysosomal storage disorders on biology of mesenchymal stem cells: Evidences from in vitro silencing of glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes.

scientific article published on 18 January 2017

Influence of APOE and RNF219 on Behavioral and Cognitive Features of Female Patients Affected by Mild Cognitive Impairment or Alzheimer's Disease.

scientific article

Influence of novel nano-titanium implant surface on human osteoblast behavior and growth.

scientific article

Inside the granulosa transcriptome.

scientific article

Intravenous grafts of amniotic fluid-derived stem cells induce endogenous cell proliferation and attenuate behavioral deficits in ischemic stroke rats

scientific article

Isolation of osteogenic progenitors from human amniotic fluid using a single step culture protocol

scientific article

Karyotypic changes identified by HaeIII restriction endonuclease banding in a patient with M2 acute non-lymphoblastic leukemia

scientific article published on 01 March 1990

Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly

scientific article published in March 2005

Leukemic evolution in three patients with myelodysplastic syndrome and unusual chromosome changes

scientific article published on 01 July 1992

MBL2 and FCN2 gene polymorphisms in a cohort of Italian children with rheumatic fever: A case-control study

scientific article published on 27 April 2017

MK-954 (losartan potassium) exerts endothelial protective effects against reperfusion injury: evidence of an e-NOS mRNA overexpression after global ischemia

scientific article

MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting.

scientific article

Male factor infertility and lack of openness about infertility as risk factors for depressive symptoms in males undergoing assisted reproductive technology treatment in Italy.

scientific article published on 12 February 2017

Microarray evaluation of age-related changes in human dental pulp

scientific article published in September 2009

Microarray expression profiling of human dental pulp from single subject.

scientific article

Microsatellite polymorphism of the human leptin gene (LEP) and risk of cardiovascular disease

scientific article published on 01 February 2006

Molecular Analysis of a Genetic Variants Panel Related to Nutrients and Metabolism: Association with Susceptibility to Gestational Diabetes and Cardiometabolic Risk in Affected Women

scientific article published on 04 January 2017

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay

scientific article published in June 2003

Molecular studies in three patients with isodicentric Y chromosome

scientific article published on December 1996

Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment

scientific article published on 05 December 2011

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

article

Muscle-specific integrins in masseter muscle fibers of chimpanzees: an immunohistochemical study.

scientific article

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

scientific article

Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli

article

Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb

scientific article published on 01 May 2000

Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome.

scientific article

Nuclear translocation of beta II PKC isoenzyme in phorbol ester-stimulated KM-3 pre-B human leukemic cells.

scientific article published on November 1995

Nutrigenetic variants and cardio-metabolic risk in women with or without gestational diabetes

scientific article published on 8 January 2018

Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson

scientific article published on 01 July 2012

Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques

article

Reduced thromboxane biosynthesis in carriers of toll-like receptor 4 polymorphisms in vivo

scientific article (publication date: May 2006)

Retrospective investigation of hematopoietic chimerism after BMT by PCR amplification of hypervariable DNA regions

scientific article published in December 1995

Routine fluorescence in situ hybridization analysis for detection of BCR-ABL rearrangement in myeloproliferative disorders

scientific article published on 01 June 1997

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

article

Sequence-specific modification of a beta-thalassemia locus by small DNA fragments in human erythroid progenitor cells

scientific article published in January 2007

Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis

scientific article published in June 2000

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region.

scientific article

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

article

TNF-alpha-induced apoptosis in Daudi cells: multiparametric analysis

scientific article published on July 1997

TNF-α gene polymorphisms and juvenile idiopathic arthritis: Influence on disease outcome and therapeutic response

scientific article published on 19 February 2015

Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis

scientific article published on 31 March 2017

Testis transcriptome analysis in male infertility: new insight on the pathogenesis of oligo-azoospermia in cases with and without AZFc microdeletion

scientific article

The ADRA2B gene in the production of false memories for affective information in healthy female volunteers

scientific article published on 08 July 2017

The Impact of Epigenetic Signatures on Amniotic Fluid Stem Cell Fate

scientific article published on 25 November 2018

The MTR 2756A>G polymorphism and maternal risk of birth of a child with Down syndrome: a case-control study and a meta-analysis.

scientific article published on 23 October 2013

The MTRR 66A>G polymorphism and maternal risk of birth of a child with Down syndrome in Caucasian women: a case–control study and a meta-analysis

article

The distribution of genes on chromosomes: a cytological approach

scientific article

The lack of epithelial interleukin-7 and BAFF/BLyS gene expression in prostate cancer as a possible mechanism of tumor escape from immunosurveillance

scientific article published on 14 April 2009

The modulating role of ADRA2B in emotional working memory: Attending the negative but remembering the positive.

scientific article

Therapeutic outcomes of transplantation of amniotic fluid-derived stem cells in experimental ischemic stroke

scientific article

Therapeutic potential of hAECs for early Achilles tendon defect repair through regeneration.

scientific article

Transcriptome modifications in human gingival fibroblasts exposed to 2-hydroxyethyl methacrylate.

scientific article published on 29 January 2016

Transcriptome-based identification of new anti-inflammatory and vasodilating properties of the n-3 fatty acid docosahexaenoic acid in vascular endothelial cell under proinflammatory conditions [corrected].

scientific article published on 26 June 2015

Translating amniotic fluid-derived stem cells for transplantation in stroke

Translocation (8;11)(q12-13;q21) in embryonal rhabdomyosarcoma

scientific article published in February 1992

Translocation t(X;18) in synovial sarcoma. AluI endonuclease digestion for breakpoint detection in two cases

scientific article published on 01 December 1990

Tropomyosin-related kinase B receptor polymorphisms and isoforms expression in suicide victims

scientific article published on 28 July 2014

Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome

scientific article published on 01 March 2010

Two novel genomic rearrangements identified in suicide subjects using a-CGH array

scientific article

Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome

scientific article published on 01 September 2010

Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.

scientific article published on 8 March 2012

Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation

scientific article published in October 2004

Wnt signaling behaves as a "master regulator" in the osteogenic and adipogenic commitment of human amniotic fluid mesenchymal stem cells

scientific article published on October 2013

X/Y translocation in a family with Leri-Weill dyschondrosteosis

scientific article published on 01 October 1999

Y-chromosomal DNA haplotype differences in control and infertile Italian subpopulations

scientific article published on 01 September 1999

Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population

scientific article published on 8 December 2006

p53 Is Active in Human Amniotic Fluid Stem Cells

scholarly article by Melissa Rodrigues et al published 2 October 2018 in Stem Cells and Development

p53 loss and point mutations are associated with suppression of apoptosis and progression of CML into myeloid blastic crisis

scientific article published in October 1997

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