Epigenetics and human reproduction: the primary prevention of the noncommunicable diseases von Franzago, Marica, La Rovere, Marina, Guanciali Franchi, Paolo, Vitacolonna, Ester, Stuppia, Liborio

Volltext

Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis von Guanciali Franchi, Paolo, Palka, Chiara, Morizio, Elisena, Sabbatinelli, Giulia, Alfonsi, Melissa, Fantasia, Donatella, Sitar, Giammaria, Benn, Peter, Calabrese, Giuseppe

Volltext

First case of two supernumerary markers derived from chromosome 5 and chromosome 8 von Giansante, Roberta, Palka Bayard De Volo, Chiara, Alfonsi, Melissa, Morizio, Elisena, Guanciali Franchi, Paolo

Volltext

Hsa-miR-155-5p drives aneuploidy at early stages of cellular transformation von Pagotto, Sara, Veronese, Angelo, Soranno, Alessandra, Lanuti, Paola, Di Marco, Mirco, Russo, Marco Vincenzo, Ramassone, Alice, Marchisio, Marco, Simeone, Pasquale, Guanciali-Franchi, Paolo E, Palka, Giandomenico, Costantini, Renato Mariani, Croce, Carlo M, Visone, Rosa

Volltext

HNRNPL Restrains miR-155 Targeting of BUB1 to Stabilize Aberrant Karyotypes of Transformed Cells in Chronic Lymphocytic Leukemia von Pagotto, Sara, Veronese, Angelo, Soranno, Alessandra, Balatti, Veronica, Ramassone, Alice, Guanciali-Franchi, Paolo E, Palka, Giandomenico, Innocenti, Idanna, Autore, Francesco, Rassenti, Laura Z, Kipps, Thomas J, Mariani-Costantini, Renato, Laurenti, Luca, Croce, Carlo M, Visone, Rosa

Volltext

Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women von Guanciali-Franchi, Paolo, Iezzi, Irene, Palka, Chiara, Matarrelli, Barbara, Morizio, Elisena, Calabrese, Giuseppe, Benn, Peter

Volltext

Non-invasive prenatal screening: A 20-year experience in Italy von Palka, Chiara, Guanciali-Franchi, Paolo, Morizio, Elisena, Alfonsi, Melissa, Papponetti, Marco, Sabbatinelli, Giulia, Palka, Giandomenico, Calabrese, Giuseppe, Benn, Peter

Volltext

Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment von Palka, Chiara, Alfonsi, Melissa, Mohn, Angelika, Cerbo, Renato, Guanciali Franchi, Paolo, Fantasia, Donatella, Morizio, Elisena, Stuppia, Liborio, Calabrese, Giuseppe, Zori, Roberto, Chiarelli, Francesco, Palka, Giandomenico

Volltext

Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report von Dell'Edera, Domenico, Allegretti, Arianna, Ventura, Mario, Mercuri, Ludovica, Mitidieri, Angela, Cuscianna, Giacinto, Epifania, Annunziata Anna, Morizio, Elisena, Alfonsi, Melissa, Guanciali-Franchi, Paolo

Volltext

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA) von GATTA, Valentina, SCARCIOLLA, Oronzo, GASPARI, Anna Rita, PALKA, Chiara, DE ANGELIS, Maria Vittoria, DI MUZIO, Antonio, GUANCIALI-FRANCHI, Paolo, CALABRESE, Giuseppe, UNCINI, Antonino, STUPPIA, Liborio

Volltext

Aneuploidy screening using circulating fetal cells in maternal blood by dual‐probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women von Calabrese, Giuseppe, Fantasia, Donatella, Alfonsi, Melissa, Morizio, Elisena, Celentano, Claudio, Guanciali Franchi, Paolo, Sabbatinelli, Giulia, Palka, Chiara, Benn, Peter, Sitar, Gianmaria

Volltext

Optimal cut-offs for down syndrome contingent screening in a population of 10 156 pregnant women von Guanciali-Franchi, Paolo, Iezzi, Irene, Soranno, Alessandra, de Volo, Chiara Palka-Bayard, Alfonsi, Melissa, Calabrese, Giuseppe, Benn, Peter

Volltext

Effectiveness of crosstrimester test in selecting high-risk pregnant women to undergo invasive prenatal diagnosis von Guanciali-Franchi, Paolo, Iezzi, Irene, Matarrelli, Barbara, Morizio, Elisena, Calabrese, Giuseppe, Palka, Giandomenico

Volltext

Fetal Facial Profile in Pallister-Killian Syndrome von Liberati, Marco, Melchiorre, Karen, D’Emilio, Ilenia, Guanciali-Franchi, Paolo Emilio, Iezzi, Irene, Rotmensch, Sigfried, Celentano, Claudio

Volltext

Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome von MORO, Enrico, FERLIN, Alberto, HSIAO YEN, Pauline, GUANCIALI FRANCHI, Paolo, PALKA, Giandomenico, FORESTA, Carlo

Volltext

A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11 von Stuppia, L, Gatta, V, Calabrese, G, Guanciali Franchi, P, Morizio, E, Bombieri, C, Mingarelli, R, Sforza, V, Frajese, G, Tenaglia, R, Palka, G

Volltext

Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis von Guanciali-Franchi, Paolo, Calabrese, Giuseppe, Morizio, Elisena, Fantasia, Donatella, Colosimo, Alessia, Rinaldi, Maria M., Cristini, Luciano, Simonelli, Andrea, Lonardo, Fortunato, Turci, Alessandra, Zatterale, Adriana, Laganà, Carmelo, Stuppia, Liborio, Sabatino, Giuseppe, Palka, Giandomenico

Volltext

Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly von Celentano, Claudio, Guanciali-Franchi, Paolo Emilio, Liberati, Marco, Palka, Chiara, Fantasia, Donatella, Morizio, Elisena, Calabrese, Giuseppe, Stuppia, Liborio, Rotmensch, Siegfried

Volltext

Karyotype refinement by multicolor fluorescence in situ hybridization analysis in 18 patients with acute lymphoblastic leukemia von CALABRESE, Giuseppe, TARABORELLI, Tea, FANTASIA, Donatella, FRANCHI, Paolo Guanciali, SPADANO, Antonio, PALKA, Giandomenico

Volltext

An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations von Guanciali-Franchi, Paolo, Celentano, Claudio, Alfonsi, Melissa, Palka, Chiara, Di Pasqua, Giulietta, Matarrelli, Barbara, Palka, Giandomenico

Volltext