Search Results - "Chiappe, F"

Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot by Guida, V, Chiappe, F, Ferese, R, Usala, G, Maestrale, G, Iannascoli, C, Bellacchio, E, Mingarelli, R, Digilio, MC, Marino, B, Uda, M, De Luca, A, Dallapiccola, B

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CO19 ALAGILLE SYNDROME: A WIDE RANGE OF CLINICAL EXPRESSION DURING CHILDHOOD by Filippeschi, I. Pellegrini, Rios, N. Lopez, Centenari, C, Sciveres, M, Riva, S, Scibilia, G, Chiappe, F, Maggiore, G

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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome by Marzella, Rosalia, Uda, Manuela, Rocchi, Mariano, Loi, Angela, Bonneau, Dominique, Cao, Antonio, Chiappe, Francesca, Gasparini, Paolo, Crisponi, Laura, Deiana, Manila, Schlessinger, David, Porcu, Susanna, Pilia, Giuseppe, Nicolino, Marc, Bisceglia, Luigi, Amati, Patrizia, Zelante, Leopoldo, Nagaraja, Ramaiah, Serafina Ristaldi, M, Lienhardt-Roussie, Anne, Nivelon, Annie, Verloes, Alain

“…In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the…”
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Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1 by Crisponi, Laura, Crisponi, Giangiorgio, Meloni, Alessandra, Toliat, Mohammad Reza, Nürnberg, Gudrun, Usala, Gianluca, Uda, Manuela, Masala, Marco, Höhne, Wolfgang, Becker, Christian, Marongiu, Mara, Chiappe, Francesca, Kleta, Robert, Rauch, Anita, Wollnik, Bernd, Strasser, Friedrich, Reese, Thomas, Jakobs, Cornelis, Kurlemann, Gerd, Cao, Antonio, Nürnberg, Peter, Rutsch, Frank

“…Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling…”
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Italian multicentre study on very low-birth-weight babies. Neonatal mortality and two-year outcome by de Vonderweid, U, Spagnolo, A, Corchia, C, Chiandotto, V, Chiappe, S, Chiappe, F, Colarizi, P, De Luca, T, Didato, M, Fertz, M C

“…The Italian multicentre study on very low-birth-weight babies is the first collaborative project in Italy on the health status of newborns weighing 500-1499 g…”
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Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome by Uzunalic, N, Zenciroglu, A, Beken, S, Piras, R, Dilli, D, Aydin, B, Chiappe, F, Okumus, N, Crisponi, L

“…Crisponi syndrome (CS) is a rare, autosomal recessive disorder, characterized by hyperthermia, extensive muscular contractions in the face after even minimal…”
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FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences by Crisponi, Laura, Uda, Manuela, Deiana, Manila, Loi, Angela, Nagaraja, Ramaiah, Chiappe, Francesca, Schlessinger, David, Cao, Antonio, Pilia, Giuseppe

“…A translocation breakpoint 171 kb 5′ of the transcription start of FOXL2 causes blepharophimosis/ptosis/epicanthus inversus syndrome (BPES) and associated…”
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Italian Multicenter Study on Very Low Birth Weight Babies by de Vonderweid, U, Carta, A, Chiandotto, V, Chiappe, F, Chiappe, S, Colarizi, P, Corchia, C, De Luca, T, Didato, M, Gioeli, R A

“…The Italian Multicenter Study on Very Low Birth Weight babies (IMS-VLBW) is the first collaborative investigation performed in Italy on the health status of…”
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Prophylaxis of respiratory distress syndrome by treatment with modified porcine surfactant at birth: a multicentre prospective randomized trial by Bevilacqua, G, Parmigiani, S, Robertson, B

“…The objective of this prospective, multicentre trial, carried out at 18 third level hospitals in Italy, was to evaluate efficacy of modified porcine surfactant…”
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Pertussis immunization in HIV-1-infected infants: a model to assess the effects of repeated T cell-dependent antigen administrations on HIV-1 progression.: Italian Register for HIV infection in children by Tovo, Pier-Angelo, de Martino, Maurizio, Gabiano, Clara, Galli, Luisa

“…Several data evidence that HIV-1 replication may increase in temporal association with immunizations, raising concerns on potential negative effects of…”
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Efficacy and Safety of a New Premature Infant Formula 1514 by Fessard, C L, Rose, S J, Putet, G, Adam, E, Pierrat, V, Vanderhoof, J, Chiappe, F, Clandinin, M T, Puntis, J W, Sanna, M, Simeoni, U, Billeaud, C, Guillois, B, Langhendries, J P, Ameen, V, Conway, L, Euler, A

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Role of Rhuepo on Blood Transfusions in Preterm Infants After the Fifteenth Day of Life by Testa, Marcella, Reali, Alessandra, Copula, Maristella, Pinna, Bernadette, Birocchi, Francesca, Pisu, Cinzia, Chiappe, Francesco

“…The specific aim of the study was to assess the safety and efficacy of recombinant human erythropoietin (rHuEpo) in reducing the need for blood transfusions in…”
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Main problems which affect the mental health of the family by Chiappe, F M

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Intra- and extra-erythrocytic pH and electrolytes in the healthy newborn infant by Chiappe, S, Chiappe, F, Angioni, G

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Blood intra-erythrocyte and plasma electrolytes (Na, K, Cl) in healthy newborns by Chiappe, S, Chiappe, F, Angioni, G

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On the treatment of delayed metabolic acidosis in the premature infant by Chiappe, S, Chiappe, F, Borghero, L

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APPLICATION OF THE DAHLBERT METHOD (COMPARISON OF VARIABILITY BETWEEN SERIES OF MZ AND DZ TWIN PAIRS) TO THE STUDY OF SOMATIC VALUE IN THE NEWBORN by CHIAPPE, F, MACCIOTTA, A, CHIAPPE, S

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FREQUENCY OF TWIN BIRTHS IN THE POPULATION OF CAGLIARI IN THE COURSE OF THE LAST 11 YEARS by BORGHERO, L, CHIAPPE, F, CHIAPPE, S

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BEHAVIOR OF THE MATURATION CURVE OF BILIRUBIN IN A GROUP OF PREMATURE TWINS by CHIAPPE, S, BORGHETTO, L, CHIAPPE, F

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LONGITUDINAL STUDY OF SOME ANTHROPOMETRIC INDEXES IN A SERIES OF TWINS by CHIAPPE, F, BORGHERO, L, CHIAPPE, S

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