Zobrazeno 1 - 10 of 40 pro vyhledávání: '"Lidia Pezzani"'
2
Akademický článek
A long way to syndromic short stature
Autor: Federica Gaudioso, Camilla Meossi, Lidia Pezzani, Federico Grilli, Rosamaria Silipigni, Silvia Russo, Maura Masciadri, Alessandro Vimercati, Paola Giovanna Marchisio, Maria Francesca Bedeschi, Donatella Milani
Publikováno v: Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-9 (2024)
Abstract Background Silver-Russell Syndrome (SRS, MIM #180860) is a clinically and genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation; SRS is also accompanied by dysmorphic features such as triangular fa
Externí odkaz: https://doaj.org/article/ddf719aa5eaf42598af127e93cf35bc8
Zobrazit plný text záznamu
3
Akademický článek
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
Autor: Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, Barbara Facchinetti, Daniela Marchetti, Agnese Scatigno, Anna R. Lincesso, Loredana Perego, Monica Pingue, Isabella Pellicioli, Lucia Migliazza, Giovanna Mangili, Lorenzo Galletti, Ursula Giussani, Ezio Bonanomi, Anna Cereda, Maria Iascone
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background In the last few years trio‐whole exome sequencing (WES) analysis has demonstrated its potential in obtaining genetic diagnoses even in nonspecific clinical pictures and in atypical presentations of known diseases. Moreover WES a
Externí odkaz: https://doaj.org/article/37960e69999c427d889309a579225219
Zobrazit plný text záznamu
4
Akademický článek
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management
Autor: Laura Pezzoli, Lidia Pezzani, Ezio Bonanomi, Chiara Marrone, Agnese Scatigno, Anna Cereda, Maria Francesca Bedeschi, Angelo Selicorni, Serena Gasperini, Paolo Bini, Silvia Maitz, Carla Maccioni, Cristina Pedron, Lorenzo Colombo, Daniela Marchetti, Matteo Bellini, Anna Rita Lincesso, Loredana Perego, Monica Pingue, Nunzia Della Malva, Giovanna Mangili, Paolo Ferrazzi, Maria Iascone
Publikováno v: Journal of Cardiovascular Development and Disease, Vol 9, Iss 1, p 2 (2021)
Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysi
Externí odkaz: https://doaj.org/article/3c235ef6734140edb0e00c0d4af8ab5b
Zobrazit plný text záznamu
5
Akademický článek
Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases
Autor: Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M. Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano, Monica Miozzo
Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
Abstract Background Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of Beckwith-Wiedemann Sy
Externí odkaz: https://doaj.org/article/d6777ba42dcd4433ae219687367c081d
Zobrazit plný text záznamu
7
SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel
Autor: Sebastiano Aleo, Lidia Pezzani, Donatella Milani, Laura Pezzoli, Paola Marchisio, Maria Iascone
Publikováno v: Mol Syndromol
Introduction: Mendelian disorders of the epigenetic machinery are a growing group of disorders exhibiting several overlapping clinical features that are probably due to common abnormalities at the epigenomic level, which lead to downstream convergenc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c872c2866908fde95e1c1e2a81b2d31d
https://doi.org/10.1159/000524844
Zobrazit plný text záznamu
9
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients
Autor: Erica Rosina, Lidia Pezzani, Laura Pezzoli, Daniela Marchetti, Matteo Bellini, Alba Pilotta, Olga Calabrese, Emanuele Nicastro, Francesco Cirillo, Anna Cereda, Agnese Scatigno, Donatella Milani, Maria Iascone
Publikováno v: Genes; Volume 13; Issue 7; Pages: 1275
In the last few years, trio-Whole Exome Sequencing (WES) analysis has revolutionized the diagnostic process for patients with rare genetic syndromes, demonstrating its potential even in non-specific clinical pictures and in atypical presentations of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b9386a0aef340b374e2e5894537d388
https://doi.org/10.3390/genes13071275
Zobrazit plný text záznamu
10
A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins
Autor: Jole Costanza, Davide Rovina, Patrizia Colapietro, Lidia Pezzani, Laura Riboni, Laura Fontana, Donatella Milani, Paola Marchisio, Eleonora Bonaparte, Leda Paganini, Loubna Abdel Hadi, Monica Miozzo, Silvia Tabano, Silvia M. Sirchia, Massimiliano Chetta
Publikováno v: Clinical Genetics
X-linked intellectual disability (XLID) refers to a clinically and genetically heterogeneous neurodevelopmental disorder, in which males are more heavily affected than females. Among the syndromic forms of XLID, identified by additional clinical sign
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76b65dc54946adb487b46e1f1b625ea5
http://europepmc.org/articles/PMC6392117
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje