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NUCARO, ANNA LISA

NUCARO, ANNA LISA  

Istituto di Ricerca Genetica e Biomedica - IRGB  

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Titolo Data di pubblicazione Autore(i) File
X-Linked Mental Retardation and Conjuntival Teleangectasias: Correction of the Previously Reported Karyotype. 1-gen-2014 Cianchetti, Carlo; Nucaro, ANNA LISA
Microbial changes in subgigival plaque and polymicrobial intracellular flora in buccal cells after fixed orthodontic appliance therapy: a preliminary study 1-gen-2013 C Montaldo; M Erriu; FMG Pili; C Peluffo; A Nucaro; G Orrù G; Denotti
Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotype... 1-gen-2012 Cabras, V; Milia, A; Montaldo, C; Nucaro, A
Ring 20 syndrome mosaicism and epilepsy: a case with duplication of two Bac clones in 2oq11.21-q11.22 defined by genome array- CGH. 1-gen-2012 Cabras V; Erriu M; Loi M; Milia A; Montaldo C; Nucaro A.
The down-up bone bridge approach for cochlear and middle ear implants: our experience in 34 patients. 1-gen-2012 Achena, F; Montaldo, C; Nucaro, A
Chromosome 8p23.2-pter: a critical region for mental retardation, autism and epilepsy? 1-gen-2011 A. Nucaro; T. Pisano; I. Chillotti; C. Montaldo; D. Pruna
Detection of a BAC clone duplication in 17p11.2 in two unrelated patients, affected by severe epileptic encephalopathy, by Genome Array-CGH: a new variant of Potocky- Lupsky syndrome? 1-gen-2011 Nucaro, ANNA LISA; Montaldo, Caterina; Dettori, Tinuccia; Caria, Paola; Zorco Noemi Santini, Stefania; Milia, Angela; Vanni, Roberta; Cianchetti, Carlo; Pruna, Dario
HLA-DQB1 HAPLOTYPES AND THEIR RELATION TO ORAL SIGNS LINKED TO CELIAC DISEASE DIAGNOSIS. 1-gen-2011 Erriu, M; Sanna, S; Nucaro, A; Orru, G; Garau, V; Montaldo, C
A rapid method for HLA haplotype typization. A preliminary study on celiac disease 1-gen-2010 Erriu M; Boscarelli F; Peluffo C; Orrù G; Nucaro A; Zorco S; Santini N; Montaldo C
Progressive spastic paraplegia as a feature of tetrasomy 18p 1-gen-2010 Nucaro, A; Chillotti, I; Pisano, T; Pruna, D; Cianchetti, C
RING CHROMOSOME 14 MOSAICISM: AN UNUSUAL CASE ASSOCIATED WITH DEVELOPMENTAL DELAY AND EPILEPSY, CHARACTERIZED BY GENOME ARRAY-CGH 1-gen-2010 Nucaro, A; Falchi, M; Pisano, T; Rossino, R; Boscarelli, F; Stoico, G; Milia, A; Montaldo, C; Cianchetti, C; Pruna, D
A family with segregation of an unbalanced translocation (7;13) (q36;q32) in three patients with severe mental retardation, microcephaly and dysmorphic features, detected by subtelomere FISH: genetic counselling and prenatal diagnosis. 1-gen-2008 Nucaro, A; Crisponi, G; Minafra, L; Rossino, R; Cianchetti, C
An unusual case of ring chromosome 14 with epilepsy and developmental delay. 1-gen-2008 Nucaro, A; Falchi, M; Meloni, M; Rossino, R; Pisano, T; Cianchetti, C; Pruna, D
Cri Du Chat mosaicism: a new case with partial deletion and partial deletion/duplication of the short arm of chromosome 5, leading to an unusual phenotype. 1-gen-2008 A. Nucaro; D. Murru; Ms Ristaldi; L. Boccone.
Cri Du Chat Mosaicism: An Unusual Case Of Partial Deletion And Partial Deletion/Duplication Of The Short Arm Of Chromosome 5,Leading To An Unusual Cri Du Chat Phenotype 1-gen-2008 D. Murru; L. Boccone; M.S. Ristaldi; AL. Nucaro.
Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31 --> pter and monosomy 3p26.3 --> pter in seven members 1-gen-2008 AL. Nucaro; M. Meloni; T. Pisano; P. Melis; E. Rossi; R. Rossino, S. Corona; M. Loi; F. Achena; O. Zuffardi; C. Cianchetti.
Genetic loci linked to type 1 diabetes and multiple sclerosis families in Sardinia. 1-gen-2008 Pitzalis, M; Zavattari, P; Murru, R; Deidda, E; Zoledziewska, M; Murru, D; Moi, L; Motzo, C; Orrù, V; Costa, G; Solla, E; Fadda, E; Schirru, L; Melis, Mc; Lai, M; Mancosu, C; Tranquilli, S; Cuccu, S; Rolesu, M; Secci, Ma; Corongiu, D; Contu, D; Lampis, R; Nucaro, A; Et, Al
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly 1-gen-2008 Pisano, T; Meloni, M; Cianchetti, C; Falchi, M; Nucaro, A; Pruna, D
Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3) 1-gen-2008 Al. Nucaro; P. Melis; MR. Casini; R. Rossino; M. Cau; Ma. Melis; S. Loche.
A FAMILY WITH SEGREGATION OF AN UNBALANCED TRANSLOCATION (7;13)(q36;q32) IN THREE PATIENTS WITH SEVERE MENTAL RETARDATION, MICROCEPHALY AND DYSMORPHIC FEATURES, DETECTED BY SUBTELOMERE FISH: COUNSELLING AND PRENATAL DIAGNOSIS 1-gen-2007 Nucaro, A; Crisponi, G; Minafra, L; Rossino, R; Cianchetti, C