List of works - Sandro Orru

A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2.

scientific article published on 25 July 2012

A 9.1-kb Gap in the Genome Reference Map Is Shown to Be a Stable Deletion/Insertion Polymorphism of Ancestral Origin

scientific article published on 01 December 2002

A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics

scientific article

A plea to search for deletion polymorphism through genome scans in populations

scientific article published on 01 October 2000

A psoriasis vulgaris protective gene maps close to the HLA-C locus on the EH18.2-extended haplotype

scientific article published in July 2004

Absence of activating killer immunoglobulin-like receptor genes combined with hepatitis C viral genotype is predictive of hepatocellular carcinoma

scientific article published on 10 June 2013

Association of monoamine oxidase B alleles with age at onset in amyotrophic lateral sclerosis

scientific article published on 01 December 1999

Author Correction: Cross sectional evaluation of the gut-microbiome metabolome axis in an Italian cohort of IBD patients.

scientific article published on 19 March 2018

Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization ⬇️

scientific article published on September 10, 2010

Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

scientific article

Cross sectional evaluation of the gut-microbiome metabolome axis in an Italian cohort of IBD patients

scientific article published on 25 August 2017

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.

scientific article published on 12 June 2013

Defining the allelic variants of HLA-A30 in the Sardinian population using amplification refractory mutation system--polymerase chain reaction

scientific article

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome).

scientific article

Distribution of HLA alleles and haplotypes in the Maldivian population.

scientific article published in March 2011

Exploring the Role of Killer Cell Immunoglobulin-Like Receptors and Their HLA Class I Ligands in Autoimmune Hepatitis.

scientific article

Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients

scientific article published on 8 December 2017

HLA-G gene polymorphism in human placentas: possible association of G*0106 allele with preeclampsia and miscarriage

article

HLA-G molecules and clinical outcome in Chronic Myeloid Leukemia

scientific article published on 18 August 2017

HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch-Nyhan disease

scientific article

Homozygosity for killer immunoglobin-like receptor haplotype A predicts complete molecular response to treatment with tyrosine kinase inhibitors in chronic myeloid leukemia patients

scientific article published on 01 February 2013

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia

scientific article published on 07 August 2015

Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male

scientific article published on 17 September 2015

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

scientific article

Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome

scientific article published on 10 July 2015

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report

scientific article

Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature ⬇️

scientific article published on April 1, 2012

Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature

scientific article published on April 2010

Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening

scientific article published on 01 June 2008

Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH

scientific article published on 01 September 2009

Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature

scientific article published on 12 February 2014

Recipient CTLA-4*CT60-AA genotype is a prognostic factor for acute graft-versus-host disease in hematopoietic stem cell transplantation for thalassemia.

scientific article published on 31 December 2011

Reduced stress granule formation and cell death in fibroblasts with the A382T mutation of TARDBP gene: evidence for loss of TDP-43 nuclear function

scientific article published in October 2016

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

scientific article published on 28 September 2015

Role of human leukocyte antigen-G 14-base pair polymorphism in kidney transplantation outcomes.

scientific article published on 6 March 2013

Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases

scientific article published on 26 October 2015

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study

scientific article published on 29 March 2005

Status of donor-recipient HLA class I ligands and not the KIR genotype is predictive for the outcome of unrelated hematopoietic stem cell transplantation in beta-thalassemia patients

scientific article published on 14 September 2007

Tetrasomy 9p mosaicism associated with a normal phenotype in two cases

scientific article published on 05 April 2012

The HLA-DRB1*0101 allele is responsible for HLA susceptibility to lichen ruber planus

scientific article published on 01 December 1994

The human leucocyte antigen-G 14-basepair polymorphism correlates with graft-versus-host disease in unrelated bone marrow transplantation for thalassaemia

scientific article published on 01 October 2007

The use of array-CGH in a cohort of Greek children with developmental delay.

scientific article published on 9 November 2010

VGF Protein and Its C-Terminal Derived Peptides in Amyotrophic Lateral Sclerosis: Human and Animal Model Studies

scientific article

West Mediterranean islands (Corsica, Balearic islands, Sardinia) and the Basque population: contribution of HLA class I molecular markers to their evolutionary history

scientific article (publication date: November 2001)

What Unrelated Hematopoietic Stem Cell Transplantation in Thalassemia Taught us about Transplant Immunogenetics

scientific article

List of works by Sandro Orru

A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2.

A 9.1-kb Gap in the Genome Reference Map Is Shown to Be a Stable Deletion/Insertion Polymorphism of Ancestral Origin

A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics

A plea to search for deletion polymorphism through genome scans in populations

A psoriasis vulgaris protective gene maps close to the HLA-C locus on the EH18.2-extended haplotype

Absence of activating killer immunoglobulin-like receptor genes combined with hepatitis C viral genotype is predictive of hepatocellular carcinoma

Association of monoamine oxidase B alleles with age at onset in amyotrophic lateral sclerosis

Author Correction: Cross sectional evaluation of the gut-microbiome metabolome axis in an Italian cohort of IBD patients.

Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization ⬇️

Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

Cross sectional evaluation of the gut-microbiome metabolome axis in an Italian cohort of IBD patients

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.

Defining the allelic variants of HLA-A30 in the Sardinian population using amplification refractory mutation system--polymerase chain reaction

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome).

Distribution of HLA alleles and haplotypes in the Maldivian population.

Exploring the Role of Killer Cell Immunoglobulin-Like Receptors and Their HLA Class I Ligands in Autoimmune Hepatitis.

Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients

HLA-G gene polymorphism in human placentas: possible association of G*0106 allele with preeclampsia and miscarriage

HLA-G molecules and clinical outcome in Chronic Myeloid Leukemia

HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch-Nyhan disease

Homozygosity for killer immunoglobin-like receptor haplotype A predicts complete molecular response to treatment with tyrosine kinase inhibitors in chronic myeloid leukemia patients

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia

Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male

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

Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report

Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature ⬇️

Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: molecular cytogenetic analysis and review of the literature

Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening

Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH

Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature

Recipient CTLA-4*CT60-AA genotype is a prognostic factor for acute graft-versus-host disease in hematopoietic stem cell transplantation for thalassemia.

Reduced stress granule formation and cell death in fibroblasts with the A382T mutation of TARDBP gene: evidence for loss of TDP-43 nuclear function

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

Role of human leukocyte antigen-G 14-base pair polymorphism in kidney transplantation outcomes.

Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study

Status of donor-recipient HLA class I ligands and not the KIR genotype is predictive for the outcome of unrelated hematopoietic stem cell transplantation in beta-thalassemia patients

Tetrasomy 9p mosaicism associated with a normal phenotype in two cases

The HLA-DRB1*0101 allele is responsible for HLA susceptibility to lichen ruber planus

The human leucocyte antigen-G 14-basepair polymorphism correlates with graft-versus-host disease in unrelated bone marrow transplantation for thalassaemia

The use of array-CGH in a cohort of Greek children with developmental delay.

VGF Protein and Its C-Terminal Derived Peptides in Amyotrophic Lateral Sclerosis: Human and Animal Model Studies

West Mediterranean islands (Corsica, Balearic islands, Sardinia) and the Basque population: contribution of HLA class I molecular markers to their evolutionary history

What Unrelated Hematopoietic Stem Cell Transplantation in Thalassemia Taught us about Transplant Immunogenetics