ORRU, SANDRO IGNAZIO GIOVANNI

ORRU, SANDRO IGNAZIO GIOVANNI  

DIPARTIMENTO DI SCIENZE MEDICHE E SANITA' PUBBLICA  

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Risultati 1 - 20 di 132 (tempo di esecuzione: 0.029 secondi).
Titolo Data di pubblicazione Autore(i) Rivista Editore
24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease 1-gen-1997 Orru, Sandro; Thomas, G; Loizedda, A; Cox, Dw; Contu, L. HUMAN MUTATION -
297. Abnormal ultrasound findings in 45,X early pregnancy loss 1-gen-2007 Murru, R; Andrea, F; Angiolucci, Marco; Deidda, S; Marongiu, R; Virdis, M; Faedda, A; Milia, A; Orru, Sandro; Carcassi, Carlo - -
45, X karyotipe and abnormal ultrasound findings in early pregnancy loss 1-gen-2009 Angiolucci, Marco; Murru, R; Mais, Valerio; Azzena, A; Martorana, L; Deidda, S; Licheri, V; Sammarco, A; Orru, Sandro; Carcassi, Carlo CHROMOSOME RESEARCH -
45, X karyotype and abnormal ultrasound findings in early pregnancy loss 1-gen-2009 Angiolucci, M; Murru, R; Mais, Valerio; Azzena, A; Martorana, L; Deidda, S; Licheri, V; Sammarco, A; Orru, Sandro; Carcassi, Carlo CHROMOSOME RESEARCH -
A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2 1-gen-2012 Siomou, E; Manolakos, E; Petersen, M; Thomaidis, L; Gyftodimou, Y; Orru, Sandro; Papoulidis, I. EUROPEAN JOURNAL OF MEDICAL GENETICS -
A 9.1-kb gap in the genome reference map is shown to be a stable deletion/insertion polymorphism of ancestral origin 1-gen-2002 Robledo, Renato; Orru, Sandro; Sidoti, A; Muresu, R; Esposito, D; Grimaldi, Mc; Carcassi, Carlo; Rinaldi, A; Bernini, L; Contu, L; Romani, M; Roe, B; Siniscalco, M. GENOMICS -
A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics 1-gen-2014 Lagou, M; Papoulidis, I; Orru, Sandro; Papadopoulos, V; Daskalakis, G; Kontodiou, M; Anastasakis, E; Petersen, Mb; Kitsos, G; Thomaidis, L; Manolakos, E. MOLECULAR CYTOGENETICS -
A novel desmoplakin mutation associated with left dominant arrhythmogenic cardiomyopathy and cutaneous phenotype 1-gen-2021 Efthimiadis, Georgios; Zegkos, Thomas; Meditskou, Soultana; Karamitsos, Theodoros; Manolakos, Emmanouil; Papoulidis, Ioannis; Orru, Sandro; Dessalvi C, Cadeddu; Karvounis, Haralambos; Parcharidou, Despoina HELLENIC JOURNAL OF CARDIOLOGY -
A plea to search for deletion polymorphism through genome scans in populations 1-gen-2000 Siniscalco, M; Robledo, Renato; Orru, Sandro; Contu, L; Yadav, P; Ren, Q; Lai, H; Roe, B. TRENDS IN GENETICS -
A psoriasis vulgaris protective gene maps close to the HLA-C locus on the EH18.2-extended haplotype 1-gen-2004 Contu, L; Orru, Sandro; Carcassi, Carlo; Giuressi, E; Mulargia, M; Cappai, L; Valentini, D; Lai, S; Boero, R; Masala, Mv; Aste, N; Biggio, P; Cottoni, F; Cerimele, D. TISSUE ANTIGENS -
Absence of activating killer immunoglobulin-like receptor genes combined with hepatitis C viral genotype is predictive of hepatocellular carcinoma 1-gen-2013 Littera, R; Zamboni, F; Tondolo, V; Fantola, G; Chessa, Luchino; Orrù, N; Sanna, M; Valentini, D; Cappai, L; Mulargia, M; Caocci, Giovanni; Arras, M; Floris, Andrea; Orru, Sandro; LA NASA, Giorgio; Carcassi, Carlo HUMAN IMMUNOLOGY -
Allogeneic bone marrow transplantation combined with multiple anti-HIV-1 treatment in a case of AIDS 1-gen-1993 Contu, L.; LA NASA, Giorgio; Arras, M.; Pizzati, A.; Vacca, A.; Carcassi, Carlo; Ledda, A.; Boero, R.; Orru, Sandro; Pintus, A.; Schivo, L.; Faa, G.; Costa, V.; Pitzus, F. BONE MARROW TRANSPLANTATION -
ALTERED STRESS GRANULE ASSEMBLY IN CULTURED FIBROBLASTS FROM ALS PATIENTS CARRYING A TARDBP MUTATION 1-gen-2014 Sogos, Valeria; Brancia, Carla; Coni, P; Floris, A; Bellini, I; Orru, Sandro - -
AML post BMT: donor or recipient? 1-gen-2009 Azzena, A; Martorana, L; Murru, R; Licheri, M; Deidda, S; Virdis, M; Di Tucci, A; Orru, Sandro; Carcassi, Carlo CHROMOSOME RESEARCH -
Association of monoamine oxidase B alleles with age at onset in amyotrophic lateral sclerosis 1-gen-1999 Orru, Sandro; Mascia, V; Casula, M; Giuressi, E; Loizedda, A; Carcassi, Carlo; Giagheddu, M; Contu, L. NEUROMUSCULAR DISORDERS -
Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report 1-gen-2019 Orru, Sandro; Papoulidis, Ioannis; Siomou, Elisavet; Papadimitriou, Dimitrios T; Sotiriou, Sotirios; Nikolaidis, Petros; Eleftheriades, Makarios; Papanikolaou, Evaggelos; Thomaidis, Loretta; Manolakos, Emmanouil BIOMEDICAL REPORTS -
BMT in thalassemia from unrelated donors: Role of KIR polymorphism 1-gen-2004 Ventrella, A; Giustolisi, G; Mulargia, M; Vacca, A; Caocci, Giovanni; Piras, E; Lai, S; Alba, F; Orru, Sandro; Spina, F; Contu, L; LA NASA, Giorgio; Carcassi, Carlo - -
Bone marrow transplantation in thalassemia. The Cagliari team experience 1-gen-1993 Contu, L.; LA NASA, Giorgio; Pizzati, A.; Arras, M.; Vacca, A.; Ledda, A.; Carcassi, Carlo; Orru, Sandro; Mulargia, M.; Boero, R.; Leone, A. L.; Pitzus, S. BONE MARROW TRANSPLANTATION -
Case report: paracentric inversion of chromosome 1 in a man with azoospermia 1-gen-2009 Virdis, M; Licheri, V; Spina, F; Murru, R; Martorana, L; Azzena, A; Deidda, S; Balestrino, L; Orru, Sandro; Carcassi, Carlo CHROMOSOME RESEARCH -
Case report: Prenatal diagnosis of mosaic trisomy 9 1-gen-2009 Licheri, V; Vivanet, C; Murru, R; Azzena, A; Martorana, L; Deidda, S; Spina, F; Virdis, M; Orru, Sandro; Carcassi, Carlo CHROMOSOME RESEARCH -