Sfoglia per Autore
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
Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region
2014-01-01 Gatta, Valentina; Palka, Chiara; Chiavaroli, Valentina; Franchi, Sara; Cannataro, Giovanni; Savastano, Massimo; Cotroneo, Antonio Raffaele; Chiarelli, Francesco; Mohn, Angelika Anna; Stuppia, Liborio
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
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.
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
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
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
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
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
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
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
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.
Neonatal diagnosis of circumferential skin creases
2023-01-01 Cauzzo, Chiara; Chiavaroli, Valentina; Palka Bayard de Volo, Chiara; Petrucci, Altea; Topazio, Teresa; Di Donato, Giulia; Fiorentino, Riccardo; Chiarelli, Francesco; Di Valerio, Susanna
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
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 | |
Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region | 2014 | Gatta, Valentina; Palka, Chiara; Chiavaroli, Valentina; Franchi, Sara; Cannataro, Giovanni; Savastano, Massimo; Cotroneo, Antonio Raffaele; Chiarelli, Francesco; Mohn, Angelika Anna; Stuppia, Liborio | |
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 | |
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. | |
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 | |
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 | |
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 | |
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 | |
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 | |
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 | |
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 | |
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. | |
Neonatal diagnosis of circumferential skin creases | 2023 | Cauzzo, Chiara; Chiavaroli, Valentina; Palka Bayard de Volo, Chiara; Petrucci, Altea; Topazio, Teresa; Di Donato, Giulia; Fiorentino, Riccardo; Chiarelli, Francesco; Di Valerio, Susanna |
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