Search Results - "Filippi, Giorgio"

Il frammento 31ll della Forma Urbis by Filippi, Giorgio, Liverani, Paolo

“…A new fragment of the Severan marble plan of Rome came to light during renovation works in a building of the Holy See. The fragment joins with fragment FUR…”
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Il frammento 31ll della Forma Urbis by Filippi, Giorgio, Liverani, Paolo

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Neuropsychological, psychiatric, and physical manifestations in 149 members from 18 fragile X families by Cianchetti, C, Sannio-Fancello, G, Fratta, A L, Manconi, F, Orano, A, Pischedda, M P, Pruna, D, Spinicci, G, Archidiacono, N, Filippi, G

“…One hundred forty-nine subjects from 18 families with fragile X [fra(X)] syndrome were evaluated for their neuropsychological, psychiatric, and physical…”
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The de Lange syndrome. Report of 15 cases by Filippi, G

“…Fifteen cases of the de Lange syndrome are presented. Personal and family histories, clinical features, detailed radiological findings, laboratory data,…”
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Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas by Carbonara, Caterina, Longa, Lucia, Grosso, Enrico, Mazzucco, Gianna, Borrone, Carla, Garrè, Maria Luisa, Brisigotti, Massimo, Filippi, Giorgio, Scabar, Aldo, Giannotti, Aldo, Falzoni, Piero, Monga, Guido, Garini, Gianni, Gabrielli, Marzio, Riegler, Peter, Danesino, Cesare, Ruggieri, Martino, Magro, Gaetano, Migone, Nicola

“…To investigate the molecular mechanisms of tuberous sclerosis (TSC) histopathologic lesions, we have tested for loss of heterozygosity the two TSC loci (TSC1…”
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Clinical and pathologic study of familial dilated cardiomyopathy by Mestroni, Luisa, Miani, Daniela, Lenarda, Andrea Di, Silvestri, Furio, Bussani, Rossana, Filippi, Giorgio, Camerini, Fulvio

“…To evaluate the occurrence of familial cases of dilated cardiomyopathy (DC), 165 consecutive padents were studied. Diagnosis of myocardial disease was based on…”
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UN CANALE PER LA FLUITAZIONE NELL'APPENNINO BOLOGNESE. PRIMI RILIEVI by Filippi, Giorgio

“…Late in the 13th century there is documentary evidence of a canal constructed for sending timber and underwood from the Appennines of Tuscany and Emilia to the…”
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Screening for fra(x) mutation and Klinefelter syndrome in mental institutions by Pecile, V, Filippi, G

“…A total of 9153 male subjects in mental institutions from six different Italian districts were screened for the presence of bilateral microorchidism, in order…”
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Klinefelter's syndrome in Sardinia and Scotland: comparative studies of parental age and other aetiological factors in 47,XXY by CAROTHERS, A. D, FILIPPI, G

“…Data on 151 non-mosaic 47,XXY males from Sardinia, previously reported by Filippi (1986), were analysed for associations with parental ages at birth, sib order…”
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Apparent preferential loss of heterozygosity atTSC2 overTSC1 chromosomal region in tuberous sclerosis hamartomas by Carbonara, Caterina, Longa, Lucia, Grosso, Enrico, Mazzucco, Gianna, Borrone, Carla, Garrè, Maria Luisa, Brisigotti, Massimo, Filippi, Giorgio, Scabar, Aldo, Giannotti, Aldo, Falzoni, Piero, Monga, Guido, Garini, Gianni, Gabrielli, Marzio, Riegler, Peter, Danesino, Cesare, Ruggieri, Martino, Magro, Gaetano, Migone, Nicola

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The Rubinstein-Taybi syndrome. Report of 7 cases by Filippi, G

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Cytological Mapping of the Human Glucose-6-phosphate Dehydrogenase Gene Distal to the Fragile-X Site Suggests a High Rate of Meiotic Recombination across This Site by Szabo, Paul, Purrello, Michele, Rocchi, Mariano, Archidiacono, Nicoletta, Alhadeff, Becky, Filippi, Giorgio, Toniolo, Daniela, Martini, Giuseppe, Luzzatto, Lucio, Siniscalco, Marcello

“…The human gene for glucose-6-phosphate dehydrogenase (G6PD) has been subregionally mapped to band Xq28 by segregation analysis in rodent-human somatic cell…”
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Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect by ROCCHI, M, ARCHIDIACONO, N, RINALDI, A, FILIPPI, G, BARTOLUCCI, G, SANNIO FANCELLO, G, SINISCALCO, M

“…The still debated question of whether the expression of mental retardation in heterozygous carriers of the Martin-Bell syndrome is influenced by X inactivation…”
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Un canale per la fluitazione nell'Appennino bolognese. Primi rilievi by Filippi, Giorgio

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THE BECKWITH-WIEDEMANN SYNDROME: THE EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME by FILIPPI, GIORGIO, MCKUSICK, VICTOR A.

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A young girl with ring(18) mosaicism: cytogenetic studies and PEP A mapping by Rocchi, M, Cigui, I, Archidiacono, N, Pecile, V, Porcelli, G, Filippi, G

“…A young girl with 46,XX,r(18)/46,XX/45,XX,-18 chromosome constitution is reported. She displays a slight degree of mental retardation. The line with the ring…”
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Letter to the editor: +2.71 LOD score at zero recombination is not sufficient for establishing linkage between X-linked mental retardation and X-chromosome markers by Robledo, Renato, Melis, Paola, Siniscalco, Marcello, Marchi, Jula, Laficara, Francesco, Rinaldi, Antoniettina, Rocchi, Mariano, Filippi, Giorgio

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Saethre-Chotzen syndrome with trigonocephaly by Cristofori, G, Filippi, G

“…We report on a 20-month-old boy with skull malformations and motor delays. A diagnosis of Saethre-Chotzen syndrome was made in view of the clinical and…”
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XX male with breast cancer by Giammarini, A, Rocchi, M, Zennaro, W, Filippi, G

“…We present the case of a 66-year-old XX male who developed breast cancer on the left side at the age of 61. His clinical, endocrinological and cytogenetic…”
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The laboratory use of butylnitrite for the production of methemoglobin by Roth, Jr, E, Rinaldi, A, Fiori, G M, Filippi, G

“…The use of volatile butylnitrite in place of sodium nitrite for the in vitro production of methemoglobin was explored in studies of G6PD-deficient red cells…”
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