ALFONSI, MELISSA
ALFONSI, MELISSA
DIPARTIMENTO DI SCIENZE MEDICHE, ORALI E BIOTECNOLOGICHE
16p13.3 microduplication syndrome: A new characteristic case without intellectual disability
2016-01-01 Palka, Chiara; Alfonsi, Melissa; Morizio, Elisena; Guanciali-Franchi, Paolo; Mohn, Angelika; Chiarelli, Francesco; Palka, Giandomenico; Calabrese, Giuseppe
A 343 Italian cohort of patients analysed with array-comparative genomic hybridization: unsolved problems and genetic counselling difficulties
2021-01-01 Palka Bayard de Volo, C.; Alfonsi, M.; Morizio, E.; Guaciali-Franchi, P.; Mohn, A.; Chiarelli, F.
An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations
2017-01-01 Guanciali-Franchi, Paolo; Celentano, Claudio; Alfonsi, Melissa; Palka, Chiara; Di Pasqua, Giulietta; Matarrelli, Barbara; Palka, Giandomenico
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
2016-01-01 Calabrese, G.; Fantasia, D.; Alfonsi, M.; Morizio, E.; Celentano, C.; Guanciali Franchi, P.; Sabbatinelli, G.; Palka, C.; Benn, P.; Sitar, G.
Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation.
2012-01-01 Palka Bayard de Volo, C; DE MARCO, Stefania; Chiavaroli, Valentina; Alfonsi, Melissa; Calabrese, Giuseppe; Chiarelli, Francesco; Mohn, Angelika Anna
Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus
2011-01-01 Palka, Chiara; Alfonsi, Melissa; Morizio, Elisena; Soranno, Alessandra; LA ROVERE, Daniela; Matarrelli, B; Rullo, Al; Zori, R; Chiarelli, Francesco; Calabrese, Giuseppe
Case report of newborn with de novo partial trisomy 2q31.2â37.3 and monosomy 9p24.3
2018-01-01 Colangelo, Maurizia; Alfonsi, Melissa; Palka, Chiara; Zio, Eleonora Di; Renzo, Silvana Di; Guanciali-Franchi, Paolo; Palka, Giandomenico
De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects.
2013-01-01 Alfonsi, Melissa; Palka, Chiara; Morizio, Elisena; Gatta, Valentina; Antonucci, Ivana; Ruggeri, G; Chiarelli, Francesco; Stuppia, Liborio; Palka, Giandomenico; Calabrese, Giuseppe
Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation
2011-01-01 Palka, Chiara; Alfonsi, Melissa; Mohn, Angelika Anna; GUANCIALI FRANCHI, Paolo Emilio; Chiarelli, Francesco; Calabrese, Giuseppe
Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures
2015-01-01 Verrotti, Alberto; Palka, Chiara; Prezioso, Giovanni; Alfonsi, Melissa; Calabrese, Giuseppe; Palka, Giandomenico; Chiarelli, Francesco
Discovering a familial Xp11.4 microduplication: Does the mother matter?
2018-01-01 PALKA BAYARD DE VOLO, Chiara; DE MARCO, Stefania; Alfonsi, Melissa; Matricardi, Sara; Errichiello, Edoardo; Morizio, Elisena; GUANCIALI FRANCHI, Paolo Emilio; Calabrese, Giuseppe; Mohn, Angelika Anna; Chiarelli, Francesco
Human second trimester amniotic fluid cells are able to create embryoid body-like structures in vitro and to show typical expression profiles of embryonic and primordial germ cells
2014-01-01 Antonucci, Ivana; DI PIETRO, Roberta; Alfonsi, M; Centurione, Ma; Centurione, Lucia; Sancilio, Silvia; D'Amico, MARIA ANGELA; DI BALDASSARRE, Angela; Piattelli, Adriano; Tetè, S; Palka, Giandomenico; Stuppia, Liborio
Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.
2012-01-01 Palka, Chiara; Alfonsi, Melissa; Mohn, Angelika Anna; Cerbo, R; GUANCIALI FRANCHI, Paolo Emilio; Fantasia, Daniela; Morizio, Elisena; Stuppia, Liborio; Calabrese, Giuseppe; Zori, R; Chiarelli, Francesco; Palka, Giandomenico
Non-invasive prenatal screening: a 20-year experience in Italy
2019-01-01 PALKA BAYARD DE VOLO, Chiara; GUANCIALI FRANCHI, Paolo Emilio; Morizio, Elisena; Alfonsi, Melissa; Papponetti, Marco; Sabbatinelli, Giulia; Palka, Giandomenico; Calabrese, Giuseppe; Peter, Benn
Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis
2017-01-01 Franchi, Paolo Guanciali; Palka, Chiara; Morizio, Elisena; Sabbatinelli, Giulia; Alfonsi, Melissa; Fantasia, Donatella; Sitar, Giammaria; Benn, Peter; Calabrese, Giuseppe
Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?
2019-01-01 Tumini, Stefano; Alfonsi, Melissa; Carinci, Silvia; Morizio, Elisena; Antonucci, Ivana; Gatta, Valentina; Lisi, Gabriele; Lelli Chiesa, Pierluigi; Calabrese, Giuseppe; Stuppia, Liborio; Palka, Chiara
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 16p13.3 microduplication syndrome: A new characteristic case without intellectual disability | 2016 | Palka, Chiara; Alfonsi, Melissa; Morizio, Elisena; Guanciali-Franchi, Paolo; Mohn, Angelika; Chiarelli, Francesco; Palka, Giandomenico; Calabrese, Giuseppe | |
| A 343 Italian cohort of patients analysed with array-comparative genomic hybridization: unsolved problems and genetic counselling difficulties | 2021 | Palka Bayard de Volo, C.; Alfonsi, M.; Morizio, E.; Guaciali-Franchi, P.; Mohn, A.; Chiarelli, F. | |
| An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations | 2017 | Guanciali-Franchi, Paolo; Celentano, Claudio; Alfonsi, Melissa; Palka, Chiara; Di Pasqua, Giulietta; Matarrelli, Barbara; Palka, Giandomenico | |
| 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 | 2016 | Calabrese, G.; Fantasia, D.; Alfonsi, M.; Morizio, E.; Celentano, C.; Guanciali Franchi, P.; Sabbatinelli, G.; Palka, C.; Benn, P.; Sitar, G. | |
| Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation. | 2012 | Palka Bayard de Volo, C; DE MARCO, Stefania; Chiavaroli, Valentina; Alfonsi, Melissa; Calabrese, Giuseppe; Chiarelli, Francesco; Mohn, Angelika Anna | |
| Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus | 2011 | Palka, Chiara; Alfonsi, Melissa; Morizio, Elisena; Soranno, Alessandra; LA ROVERE, Daniela; Matarrelli, B; Rullo, Al; Zori, R; Chiarelli, Francesco; Calabrese, Giuseppe | |
| Case report of newborn with de novo partial trisomy 2q31.2â37.3 and monosomy 9p24.3 | 2018 | Colangelo, Maurizia; Alfonsi, Melissa; Palka, Chiara; Zio, Eleonora Di; Renzo, Silvana Di; Guanciali-Franchi, Paolo; Palka, Giandomenico | |
| De novo 9q33 microdeletion identified by array-comparative genomic hybridization in a foetus with sex reversal and congenital heart defects. | 2013 | Alfonsi, Melissa; Palka, Chiara; Morizio, Elisena; Gatta, Valentina; Antonucci, Ivana; Ruggeri, G; Chiarelli, Francesco; Stuppia, Liborio; Palka, Giandomenico; Calabrese, Giuseppe | |
| Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation | 2011 | Palka, Chiara; Alfonsi, Melissa; Mohn, Angelika Anna; GUANCIALI FRANCHI, Paolo Emilio; Chiarelli, Francesco; Calabrese, Giuseppe | |
| Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures | 2015 | Verrotti, Alberto; Palka, Chiara; Prezioso, Giovanni; Alfonsi, Melissa; Calabrese, Giuseppe; Palka, Giandomenico; Chiarelli, Francesco | |
| Discovering a familial Xp11.4 microduplication: Does the mother matter? | 2018 | PALKA BAYARD DE VOLO, Chiara; DE MARCO, Stefania; Alfonsi, Melissa; Matricardi, Sara; Errichiello, Edoardo; Morizio, Elisena; GUANCIALI FRANCHI, Paolo Emilio; Calabrese, Giuseppe; Mohn, Angelika Anna; Chiarelli, Francesco | |
| Human second trimester amniotic fluid cells are able to create embryoid body-like structures in vitro and to show typical expression profiles of embryonic and primordial germ cells | 2014 | Antonucci, Ivana; DI PIETRO, Roberta; Alfonsi, M; Centurione, Ma; Centurione, Lucia; Sancilio, Silvia; D'Amico, MARIA ANGELA; DI BALDASSARRE, Angela; Piattelli, Adriano; Tetè, S; Palka, Giandomenico; Stuppia, Liborio | |
| Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. | 2012 | Palka, Chiara; Alfonsi, Melissa; Mohn, Angelika Anna; Cerbo, R; GUANCIALI FRANCHI, Paolo Emilio; Fantasia, Daniela; Morizio, Elisena; Stuppia, Liborio; Calabrese, Giuseppe; Zori, R; Chiarelli, Francesco; Palka, Giandomenico | |
| Non-invasive prenatal screening: a 20-year experience in Italy | 2019 | PALKA BAYARD DE VOLO, Chiara; GUANCIALI FRANCHI, Paolo Emilio; Morizio, Elisena; Alfonsi, Melissa; Papponetti, Marco; Sabbatinelli, Giulia; Palka, Giandomenico; Calabrese, Giuseppe; Peter, Benn | |
| Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis | 2017 | Franchi, Paolo Guanciali; Palka, Chiara; Morizio, Elisena; Sabbatinelli, Giulia; Alfonsi, Melissa; Fantasia, Donatella; Sitar, Giammaria; Benn, Peter; Calabrese, Giuseppe | |
| Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence? | 2019 | Tumini, Stefano; Alfonsi, Melissa; Carinci, Silvia; Morizio, Elisena; Antonucci, Ivana; Gatta, Valentina; Lisi, Gabriele; Lelli Chiesa, Pierluigi; Calabrese, Giuseppe; Stuppia, Liborio; Palka, Chiara |