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312 results on '"Digilio, M. C."'

52. Polyvalvular heart disease associated with short stature, facial anomalies and mental retardation

Author

Digilio, M. C., Capolino, R, MARINO TAUSSIG DE BODONIA, Bruno, and Versacci, Paolo

Subjects
Adolescent, Facies, abnormalities/ultrasonography, Syndrome, Heart Valves, Body Height, Adolescent, Body Height, genetics, Face, abnormalities, Facies, Female, Growth Disorders, diagnosis/genetics, Heart Defects, Congenital, diagnosis/genetics, Heart Valves, abnormalities/ultrasonography, Humans, Intellectual Disability, diagnosis/genetics, Syndrome, Face, Intellectual Disability, Humans, genetics, Female, abnormalities, Growth Disorders, diagnosis/genetics, Heart Defects
Published
2004

55. Development and nutrition of the braconid wasp, Aphidius ervi in aposymbiotic host aphids

Author

Pennacchio, F., Paolo FANTI, Falabella, P., Digilio, M. C., Bisaccia, F., Tremblay, E., Pennacchio, Francesco, P., Fanti, P., Falabella, Digilio, MARIA CRISTINA, F., Bisaccia, and E., Tremblay

Subjects
HELIOTHIS-VIRESCENS, INVITRO CULTURE, PEA APHID, ACCEPTANCE BEHAVIOR, NOCTUIDAE, VIRESCENS F LEPIDOPTERA, INSECT PARASITOIDS, CARDIOCHILES-NIGRICEPS, NIGRICEPS VIERECK HYMENOPTERA, ACYRTHOSIPHON-PISUM HOMOPTERA
Abstract

This study aims at evaluating whether the bacterial endosymbionts of the pea aphid, Acyrthosiphon pisum (Harris), may be of any nutritional importance to the endophagous braconid parasitoid Aphidius ervi Haliday, Aposymbiotic aphids, obtained by rifampicin treatment on artificial diet, were parasitized, and both parasitoid development and major changes in the nitrogen-derived nutrients in the host hemolymph were observed. A. ervi larvae developing in aposymbiotic pea aphids showed a significant delay in reaching the adult stage and the emerging adults showed a 50% weight reduction compared to those emerging from symbiotic aphids, In the hemolymph of parasitized symbiotic aphids, parasitism-specific proteins of approximately 15 and 45 kD were detected, and their level increased on day 5 and 6 after parasitoid oviposition. At that stage, a significant increase in the free amino acid level was observed, with glutamine showing the highest relative abundance. In contrast, the hemolymph of aposymbiotic aphids did not contain the two parasitism-specific proteins and no increase in free amino acids was observed. The results indicate that the bacterial endosymbionts in parasitized pea aphids are of pivotal importance for the development of A. ervi, Aposymbiotic aphids have a lower nutritional suitability, showing a significant reduction in the hemolymph of nitrogen-derived compounds of nutritional importance to the developing parasitoid larva, The possible role of Buchnera in nitrogen recycling is also discussed as a possible strategy for optimizing the utilization of dietary nitrogen by the parasitoid larva, Arch. Insect Biochem, Physiol, 40:53-63, 1999. (C) 1999 Wiley-Liss, Inc.

Published
1999

58. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Author

Pandit, B., Sarkozy, A., Pennacchio, L. A., Carta, C., Oishi, K., Martinelli, S., Pogna, E. A., Schackwitz, W., Ustaszewska, A., Landstrom, A., Bos, J. M., Ommen, S. R., Esposito, G., Lepri, F., Faul, C., Mundel, P., Lopez Siguero, J. P., Tenconi, Romano, Selicorni, A., Rossi, C., Mazzanti, L., Torrente, I., Marino, Bruno, Digilio, M. C., Zampino, Giuseppe, Ackerman, M. J., Dallapiccola, Bruno, Tartaglia, Marco, Gelb, B. T., Zampino, Giuseppe (ORCID:0000-0003-3865-3253), Pandit, B., Sarkozy, A., Pennacchio, L. A., Carta, C., Oishi, K., Martinelli, S., Pogna, E. A., Schackwitz, W., Ustaszewska, A., Landstrom, A., Bos, J. M., Ommen, S. R., Esposito, G., Lepri, F., Faul, C., Mundel, P., Lopez Siguero, J. P., Tenconi, Romano, Selicorni, A., Rossi, C., Mazzanti, L., Torrente, I., Marino, Bruno, Digilio, M. C., Zampino, Giuseppe, Ackerman, M. J., Dallapiccola, Bruno, Tartaglia, Marco, Gelb, B. T., and Zampino, Giuseppe (ORCID:0000-0003-3865-3253)

Published
2007

59. NF1 gene mutations represent the major molecular event underlying Neurofibromatosis-Noonan syndrome

Author

De Luca, A., Bottillo, I., Sarkozy, A., Carta, C., Neri, C., Bellacchio, E., Schirinzi, A., Conti, E., Zampino, Giuseppe, Battaglia, A., Majore, S., Rinaldi, M. M., Carella, M., Marino, Bruno, Pizzuti, A., Digilio, M. C., Tartaglia, Marco, Dallapiccola, Bruno, Zampino, Giuseppe (ORCID:0000-0003-3865-3253), De Luca, A., Bottillo, I., Sarkozy, A., Carta, C., Neri, C., Bellacchio, E., Schirinzi, A., Conti, E., Zampino, Giuseppe, Battaglia, A., Majore, S., Rinaldi, M. M., Carella, M., Marino, Bruno, Pizzuti, A., Digilio, M. C., Tartaglia, Marco, Dallapiccola, Bruno, and Zampino, Giuseppe (ORCID:0000-0003-3865-3253)

Published
2005

60. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

Author

Amati, F., Mari, A., Digilio, M. C., Mingarelli, R., Marino, B., Giannotti, A., Giuseppe Novelli, and Dallapiccola, B.

Subjects
Male, Adolescent, digeorge syndrome, adolescent, article, child, chromosome 22q, chromosome deletion, fallot tetralogy, familial disease, female, heart septum defect, human, infant, major clinical study, male, newborn, priority journal, Blotting, Southern, Child, Child, Preschool, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Human, Pair 22, DNA, DNA Probes, Female, Human, In Situ Hybridization, Fluorescence, Infant, Infant, Newborn, Prevalence, Support, Non-U.S. Gov't, Syndrome, Tetralogy of Fallot, Chromosomes, Fluorescence, Preschool, Non-U.S. Gov't, Southern, In Situ Hybridization, Blotting, Settore MED/03 - Genetica Medica, Pair 22, Support
Published
1995

77. Downʼs Syndrome and Celiac Disease

Author

Castro, M., primary, Crinò, A., additional, Papadatou, B., additional, Purpura, M., additional, Giannotti, A., additional, Ferretti, F., additional, Colistro, F., additional, Mottola, L., additional, Digilio, M. C., additional, Lucidi, V., additional, and Borrelli, P., additional

Published
1993
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80. Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality.

Author

Surace, C., Digilio, M. C., Lombardo, A., Sirleto, P., Tomaiuolo, A. C., Roberti, M. C., Capolino, R., and Angioni, A.

Subjects
*CYTOGENETICS, *CYTOLOGY, *GENETICS, *MUSCLE hypotonia, *CHROMOSOME analysis
Abstract

Cytogenetic analyses of constitutional diseases have disclosed several chromosomal rearrangements. At the molecular level, these rearrangements often result in the breakage of genes or alteration of genome architecture. Fluorescence in situ hybridization (FISH) and molecular investigations of a patient showing hypotonia and dysmorphic traits revealed a masked complex chromosome abnormality previously detected by G-banding as a simple 8qter deletion. To characterize the genetic rearrangements panels of bacterial artificial chromosomes (BACs) covering 8q24.22→qter were constructed, and short tandem repeats (STRs) were used to refine the localization of the breakpoints and to assess the parental origin of the defect. Chromosome 8 displayed the breakpoint at 8q24.22 and an unexpected distal breakpoint at 8q24.23 resulting in unbalanced translocation of a small 8q genomic region on the chromosome 16qter. The study of the 16qter region revealed that the 16q subtelomere was retained and the translocated material of distal 8q was juxtaposed. Moreover, molecular analyses showed that part of the translocated 8qter segment on der(16) was partially duplicated, inverted and that the rearrangement arose in the paternal meiosis. These findings emphasize the complexity of some only apparently simple chromosomal rearrangements and suggest a subtelomeric FISH approach to enhance diagnostic care when a cytogenetic terminal deletion is found. Copyright © 2008 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Published
2008
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92. The Italian Pilot project of the NF Register

Author

Balestrazzi, P., Lorenzetti, M. E., Sigorini, M., Lama, G., Avino, G., Rossi, L. N., Zanolini, C., Perniola, T., Margari, L., Panizon, F., Rabusin, M., Pavone, L., Ruggieri, M., Micheli, R., Gitti, F., Cacciari, E., Bergamaschi, R., Boscherini, B., Galasso, C., Franzoni, E., Migliore, M. R., Giannoti, A., Digilio, M. C., Bonioli, E., Bellini, C., Martini, C., Savasta, S., Gabrielli, O., Pellegrini, C., Iwaneiko, G., Gennari, G., Lanzi, G., Zambrino, C. A., Banchini, G., Garavelli, L., Strisciuglio, P., Corrado Romano, Zelante, L., Pasquinelli, A., Da Pelo, A., Biasini, G. C., Casadei, G. P., Comellini, L., Tozzola, A., Bassanetti, F., Busti, G., Scorza, P., Ciatto, C., and Pallotta, R.

94. The pilot project of the Italian Neurofibromatosis Register | Il progetto pilota di Registro Italiano delle Neurofibromatosi

Author

Balestrazzi, P., Lorenzetti, M. E., Sigorini, M., Lama, G., Avino, G., Rossi, L. N., Zanolini, C., Perniola, T., Lucia Margari, Panizon, F., Rabusin, M., Pavone, L., Ruggieri, M., Micheli, R., Gitti, F., Cacciari, E., Bergamaschi, R., Boscherini, B., Galasso, C., Franzoni, E., Migliore, M. R., Giannotti, A., Digilio, M. C., Bonioli, E., Bellini, C., Manini, C., Savasta, S., Gabrielli, O., Pellegrini, C., Iwaneiko, G., Gennari, G., Lanzi, G., Zambrino, C. A., Banchini, G., Garavelli, L., Strisciuglio, P., Romano, C., Zelante, L., Pasquinelli, A., Da Pelo, A., Biasini, G. C., Casadei, G. P., Comellini, L., Tozzola, A., Bassanetti, F., Busti, G., Scorza, P., Ciatto, C., Vullo, C., Banin, P., and Loi, M.

96. The pilot project of the Italian Neurofibromatosis Register,Il progetto pilota di Registro Italiano delle Neurofibromatosi

Author

Balestrazzi, P., Lorenzetti, M. E., Sigorini, M., Lama, G., Avino, G., Rossi, L. N., Zanolini, C., Perniola, T., Margari, L., Panizon, F., Rabusin, M., Pavone, L., Ruggieri, M., Micheli, R., Gitti, F., Cacciari, E., Bergamaschi, R., Boscherini, B., Galasso, C., Franzoni, E., Migliore, M. R., Giannotti, A., Digilio, M. C., Bonioli, E., Bellini, C., Manini, C., Savasta, S., Gabrielli Orazio, Pellegrini, C., Iwaneiko, G., Gennari, G., Lanzi, G., Zambrino, C. A., Banchini, G., Garavelli, L., Strisciuglio, P., Romano, C., Zelante, L., Pasquinelli, A., Da Pelo, A., Biasini, G. C., Casadei, G. P., Comellini, L., Tozzola, A., Bassanetti, F., Busti, G., Scorza, P., Ciatto, C., Vullo, C., Banin, P., and Loi, M.

100. Microdeletion 22q11 and oesophageal atresia

Author

Digilio, M. C., Marino, B., Pietro Bagolan, Giannotti, A., and Dallapiccola, B.

Subjects
Heart Defects, Congenital, Male, Chromosomes, Human, Pair 22, T-Lymphocytes, microdeletion 22q11, oesophageal atresia, vacterl association, velocardiofacial syndrome, Kidney, Choanal Atresia, Anus, Imperforate, DiGeorge Syndrome, Humans, Eye Abnormalities, Child, Esophageal Atresia, In Situ Hybridization, Fluorescence, Hypocalcemia, Infant, Original Articles, Spine, Cleft Palate, Child, Preschool, Face, Urogenital Abnormalities, Female, Chromosome Deletion
Abstract

Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q11.2) by fluorescent in situ hybridisation (FISH) in 15 syndromic patients with OA. Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal hypocalcaemia, and subtle facial anomalies resembling those of velocardiofacial syndrome. The occurrence of del(22q11.2) in our series of patients with OA is low (1/15), but this chromosomal anomaly should be included among causative factors of malformation complexes with OA. In addition, clinical variability of del(22q11.2) syndrome is further corroborated with inclusion of OA in the list of the findings associated with the deletion. Keywords: microdeletion 22q11; oesophageal atresia; VACTERL association; velocardiofacial syndrome

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