Works matching AU Guanciali-Franchi, Paolo

Results: 19

First case of two supernumerary markers derived from chromosome 5 and chromosome 8.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00601-5

By:

Giansante, Roberta;
Palka Bayard De Volo, Chiara;
Alfonsi, Melissa;
Morizio, Elisena;
Guanciali Franchi, Paolo

Publication type:

Article

Chromosome 11 rearrangements and specific MLL amplification revealed by spectral karyotyping in a patient with refractory anaemia with excess of blasts (RAEB).

Published in:

British Journal of Haematology, 2003, v. 122, n. 5, p. 760, doi. 10.1046/j.1365-2141.2003.04493.x

By:

Calabrese, Giuseppe;
Fantasia, Donatella;
Morizio, Elisena;
Toro, Patrizia M.;
Guanciali Franchi, Paolo;
Fornaro, Antonella;
Spadano, Antonio;
Stuppia, Liborio;
Palka, Giandomenico

Publication type:

Article

Case report of newborn with <bold><italic>de novo</italic></bold> partial trisomy 2q31.2-37.3 and monosomy 9p24.3.

Published in:

Journal of Genetics, 2018, v. 97, n. 1, p. 311, doi. 10.1007/s12041-017-0879-3

By:

Colangelo, Maurizia;
Alfonsi, Melissa;
Palka, Chiara;
Zio, Eleonora Di;
Renzo, Silvana Di;
Guanciali-Franchi, Paolo;
Palka, Giandomenico

Publication type:

Article

Fetal Facial Profile in Pallister-Killian Syndrome.

Published in:

Fetal Diagnosis & Therapy, 2008, v. 23, n. 1, p. 15, doi. 10.1159/000109220

By:

Liberati, Marco;
Melchiorre, Karen;
D'Emilio, Ilenia;
Guanciali-Franchi, Paolo Emilio;
Iezzi, Irene;
Rotmensch, Sigfried;
Celentano, Claudio

Publication type:

Article

An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations.

Published in:

Molecular Syndromology, 2017, v. 8, n. 1, p. 42, doi. 10.1159/000452967

By:

Guanciali-Franchi, Paolo;
Celentano, Claudio;
Alfonsi, Melissa;
Palka, Chiara;
Di Pasqua, Giulietta;
Matarrelli, Barbara;
Palka, Giandomenico

Publication type:

Article

Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis.

Published in:

PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189235

By:

Guanciali Franchi, Paolo;
Palka, Chiara;
Morizio, Elisena;
Sabbatinelli, Giulia;
Alfonsi, Melissa;
Fantasia, Donatella;
Sitar, Giammaria;
Benn, Peter;
Calabrese, Giuseppe

Publication type:

Article

HNRNPL Restrains miR-155 Targeting of BUB1 to Stabilize Aberrant Karyotypes of Transformed Cells in Chronic Lymphocytic Leukemia.

Published in:

Cancers, 2019, v. 11, n. 4, p. 575, doi. 10.3390/cancers11040575

By:

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

Publication type:

Article

Optimal cut-offs for Down syndrome contingent screening in a population of 10,156 pregnant women.

Published in:

2012

By:

Guanciali-Franchi P;
Iezzi I;
Soranno A;
de Volo CP;
Alfonsi M;
Calabrese G;
Benn P;
Guanciali-Franchi, Paolo;
Iezzi, Irene;
Soranno, Alessandra;
de Volo, Chiara Palka-Bayard;
Alfonsi, Melissa;
Calabrese, Giuseppe;
Benn, Peter

Publication type:

journal article

Optimal cut-offs for down syndrome contingent screening in a population of 10 156 pregnant women.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 12, p. 1147, doi. 10.1002/pd.3974

By:

Guanciali-Franchi, Paolo;
Iezzi, Irene;
Soranno, Alessandra;
Volo, Chiara Palka-Bayard;
Alfonsi, Melissa;
Calabrese, Giuseppe;
Benn, Peter

Publication type:

Article

Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women.

Published in:

Prenatal Diagnosis, 2011, v. 31, n. 11, p. 1077, doi. 10.1002/pd.2836

By:

Guanciali-Franchi, Paolo;
Iezzi, Irene;
Palka, Chiara;
Matarrelli, Barbara;
Morizio, Elisena;
Calabrese, Giuseppe;
Benn, Peter

Publication type:

Article

Effectiveness of crosstrimester test in selecting high-risk pregnant women to undergo invasive prenatal diagnosis.

Published in:

Prenatal Diagnosis, 2010, v. 30, n. 8, p. 795, doi. 10.1002/pd.2539

By:

Guanciali-Franchi, Paolo;
Iezzi, Irene;
Matarrelli, Barbara;
Morizio, Elisena;
Calabrese, Giuseppe;
Palka, Giandomenico

Publication type:

Article

Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly.

Published in:

Prenatal Diagnosis, 2005, v. 25, n. 3, p. 220, doi. 10.1002/pd.1110

By:

Celentano, Claudio;
Guanciali-Franchi, Paolo Emilio;
Liberati, Marco;
Palka, Chiara;
Fantasia, Donatella;
Morizio, Elisena;
Calabrese, Giuseppe;
Stuppia, Liborio;
Rotmensch, Siegfried

Publication type:

Article

A case of triploidy detected by crosstrimester test.

Published in:

2012

By:

Guanciali-Franchi, Paolo;
Iezzi, Irene;
Matarrelli, Barbara;
Morizio, Elisena;
Calabrese, Giuseppe;
Palka, Giandomenico

Publication type:

Case Study

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA).

Published in:

Human Genetics, 2005, v. 117, n. 1, p. 92, doi. 10.1007/s00439-005-1270-7

By:

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

Publication type:

Article

Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy.

Published in:

Journal of Assisted Reproduction & Genetics, 2008, v. 25, n. 11/12, p. 577, doi. 10.1007/s10815-008-9257-7

By:

di Vera, Elena;
Liberati, Marco;
Celentano, Claudio;
Calabrese, Giuseppe;
Guanciali-Franchi, Paolo Emilio;
Morizio, Elisena;
Rotmensch, Sigfried

Publication type:

Article

Cystic hygroma and mid-trimester maternal serum screening.

Published in:

Journal of Medical Screening, 2007, v. 14, n. 3, p. 109, doi. 10.1258/096914107782066167

By:

Celentano, Claudio;
Prefumo, Federico;
Iezzi, Irene;
Guanciali-Franchi, Paolo Emilio;
Palka, Chiara;
Liberati, Marco;
Rotmensch, Sigfried

Publication type:

Article

Trisomy18 fetuses with cystic hygroma linked to positive maternal serum Down's syndrome Triple test screening result.

Published in:

Journal of Medical Screening, 2005, v. 12, n. 4, p. 203, doi. 10.1258/096914105775220651

By:

Celentano, Claudio;
Guanciali-Franchi, Paolo Emilio;
Liberati, Marco;
Prefumo, Federico;
Palka, Giandomenico;
Rotmensch, Sigfried

Publication type:

Article

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.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 634, doi. 10.1002/mgg3.249

By:

Calabrese, Giuseppe;
Fantasia, Donatella;
Alfonsi, Melissa;
Morizio, Elisena;
Celentano, Claudio;
Guanciali Franchi, Paolo;
Sabbatinelli, Giulia;
Palka, Chiara;
Benn, Peter;
Sitar, Gianmaria

Publication type:

Article

Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report.

Published in:

2021

By:

Dell'Edera, Domenico;
Allegretti, Arianna;
Ventura, Mario;
Mercuri, Ludovica;
Mitidieri, Angela;
Cuscianna, Giacinto;
Epifania, Annunziata Anna;
Morizio, Elisena;
Alfonsi, Melissa;
Guanciali-Franchi, Paolo

Publication type:

journal article