Machine-learning prediction of treatment response to stereotactic body radiation therapy in oligometastatic gynecological cancer: A multi-institutional study

Autor: Cilla, Savino, Campitelli, Maura, Antonietta Gambacorta, Maria, Michela Rinaldi, Raffaella, Deodato, Francesco, Pezzulla, Donato, Romano, Carmela, Fodor, Andrei, Laliscia, Concetta, Trippa, Fabio, De Sanctis, Vitaliana, Ippolito, Edy, Ferioli, Martina, Titone, Francesca, Russo, Donatella, Balcet, Vittoria, Vicenzi, Lisa, Di Cataldo, Vanessa, Raguso, Arcangela, Giuseppe Morganti, Alessio, Ferrandina, Gabriella, Macchia, Gabriella

Publikováno v: In Radiotherapy and Oncology February 2024 191

Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis

Autor: Fortunato Lonardo, Alessia Colosimo, Paolo Guanciali-Franchi, Carmelo Laganà, Alessandra Turci, Donatella Fantasia, Giuseppe Calabrese, Luciano Cristini, Maria Michela Rinaldi, Andrea Simonelli, Adriana Zatterale, Elisena Morizio, Giuseppe Sabatino, Giandomenico Palka, Liborio Stuppia

Publikováno v: American Journal of Medical Genetics Part A. :144-148

Extra structurally abnormal chromosomes (ESACs) and cryptic rearrangements are often associated with mental retardation and phenotypic abnormalities. In some cases their characterisation, using standard cytogenetic techniques and fluorescence in situ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e7279f615ad8ab5fe3e5df1f4770cc7a
https://doi.org/10.1002/ajmg.a.20691

Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis

Autor: P. Borrelli, Rita Mingarelli, Gudrun A. Rappold, Rita Fischetto, P. Guanciali Franchi, Maria Michela Rinaldi, Aldo Giannotti, G. Fioretti, Giandomenico Palka, Liborio Stuppia, Giuseppe Calabrese, Francesco Chiarelli

Publikováno v: Clinical Genetics. 57:449-453

Twelve patients with different features of Turner syndrome, and with Xp and Yp rearrangements involving the pseudoautosomal region (PAR1) are described. In all patients, FISH analysis showed loss of one copy of the Short Stature Homeobox (SHOX)-conta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6d454a7a7181b2c4bf28b19c903dc409
https://doi.org/10.1034/j.1399-0004.2000.570609.x

Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings

Autor: Maria Esposito Salsano, Maria Michela Rinaldi, Francesca Cirillo, Nicola Marrone, Maria Majorana, Giuliana Lama

Publikováno v: Pediatric Nephrology. 9:19-23

The association of a spondyloepiphyseal dysplasia tarda (SED-T) with the nephrotic syndrome (NS) was found in three siblings. They have counsaguineous (first cousins) healthy parents. Patient 1 was a boy who was admitted to hospital for oedema at the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24e019c13f420e207eeee2a5a3760f50
https://doi.org/10.1007/bf00858959

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome

Autor: Silvia Russo, Rita Fischetto, Faustina Lalatta, Jet Bliek, I. Karen Temple, Flavia Cerrato, Gaetano Verde, Maria Michela Rinaldi, L. Giordano, Marcel M.A.M. Mannens, Jonathan L A Callaway, Serena Ferraiuolo, Paola Ferrari, Agostina De Crescenzo, Deborah J G Mackay, Saskia M. Maas, Maria Vittoria Cubellis, Andrea Riccio, Angela Sparago, Lidia Larizza

Publikováno v: European journal of human genetics, 17(5), 611-619. Nature Publishing Group
European journal of human genetics 17 (2009): 611–619.
info:cnr-pdr/source/autori:Bliek J, Verde G, Callaway J, Maas SM, De Crescenzo A, Sparago A, Cerrato F, Russo S, Ferraiuolo S, Rinaldi MM, Fischetto R, Lalatta F, Giordano L, Ferrari P, Cubellis MV, Larizza L, Temple IK, Mannens MM, Mackay DJ, Riccio A/titolo:Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome/doi:/rivista:European journal of human genetics/anno:2009/pagina_da:611/pagina_a:619/intervallo_pagine:611–619/volume:17

Genomic imprinting is an epigenetic phenomenon restricting gene expression in a manner dependent on parent of origin. Imprinted gene products are critical regulators of growth and development, and imprinting disorders are associated with both genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf379290ea5eb4c31b1d0449dba8b95b
http://hdl.handle.net/2434/54678