Search Results - "Ardisia, C"

Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression? by Prontera, P., Bartocci, A., Ottaviani, V., Isidori, I., Rogaia, D., Ardisia, C., Guercini, G., Mencarelli, A., Donti, E.

“…Aicardi syndrome (AIS), a rare neurodevelopmental disorder thought to be caused by an X-linked dominant mutation, is characterized by 3 main features: agenesis…”
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Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review by Prontera, P, Clerici, G, Bernardini, L, Schippa, M, Capalbo, A, Manes, I, Giuffrida, M G, Barbieri, M G, Ardisia, C, Donti, E

“…We describe a foetus with an interstitial deletion of 1q detected in amniotic fluid cells and we review the literature of similar pre- and postnatal cases, in…”
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MASA syndrome: ultrasonographic evidence in a male fetus by Pomili, G., Venti Donti, G., Alunni Carrozza, L., Ardisia, C., Servidio, F., Hofstra, R. M. W., Gilardi, G., Donti, E.

“…The recent identification of a common etiology among MASA syndrome (McKusick 303300), X‐linked hydrocephalus (HSAS) (McKusick 307000) and other related…”
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Interleukin-1 alpha: regulation of cellular proliferation and collagen synthesis in cultured human osteoblast-like cells by Bodo, M, Venti, G, Pezzetti, F, Ardisia, C, Antonica, A, Carinci, F, Becchetti, E

“…In this work the authors studied the effects of interleukin-1 alpha on metabolic activities of human osteoblast-like cells in vitro. The bone nature of the…”
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Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi by van den Berg, Cardi, Van Opstal, Diane, Brandenburg, Helen, Wildschut, Hajo I. J., den Hollander, Nicolette S., Pijpers, Leen, Jan H. Galjaard, Robert, Los, Frans J.

“…We report in detail the cytogenetic results of 1838 consecutive chorionic villus samples with the availability of both short‐term culture (STC‐villi) and…”
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Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression? by Prontera, P, Bartocci, A, Ottaviani, V, Isidori, I, Rogaia, D, Ardisia, C, Guercini, G, Mencarelli, A, Donti, E

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Effect of IFN alpha therapy on secondary Ph1-positive clones by Donti, E, Ferrajoli, A, Donti, G V, Senatore, M, Ardisia, C, Saglio, G, Liberati, A M

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Expression of aphidicolin-induced fragile sites in lymphocytes of patients with breast cancer by Ardisia, C, Venti, G, Colozza, M A, Breschi, C, Porfirio, B, Davis, S, Tonato, M, Donti, E

“…The expression of fragile sites induced by aphidicolin (APC) was evaluated on metaphase chromosomes obtained from the peripheral blood lymphocytes of 26 women…”
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Trisomy 4 in acute nonlymphocytic leukemia. Report of two cases and review of the literature by Donti, E, Maccari, A, Tabilio, A, Ardisia, C, Campanari, N, Donti, G V

“…Two patients with M2 subtype of acute nonlymphocytic leukemia (ANLL) and trisomy 4 as a primary karyotype change are described. The abnormality was observed in…”
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