Výsledky vyhledávání - "Margherita Silengo"

Akademický článek

Relative burden of large CNVs on a range of neurodevelopmental phenotypes.

Autor: Santhosh Girirajan, Zoran Brkanac, Bradley P Coe, Carl Baker, Laura Vives, Tiffany H Vu, Neil Shafer, Raphael Bernier, Giovanni B Ferrero, Margherita Silengo, Stephen T Warren, Carlos S Moreno, Marco Fichera, Corrado Romano, Wendy H Raskind, Evan E Eichler

Publikováno v: PLoS Genetics, Vol 7, Iss 11, p e1002334 (2011)

While numerous studies have implicated copy number variants (CNVs) in a range of neurological phenotypes, the impact relative to disease severity has been difficult to ascertain due to small sample sizes, lack of phenotypic details, and heterogeneity

Externí odkaz: https://doaj.org/article/4f4f7583269c46e28b71e81346b44b8d

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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Autor: Paola Francesca Ajmone, Maria Luisa Poch-Olive, Jens Erik Klint Nielsen, Christiane Zweier, Giovanni Sorge, Marzia Pollazzon, Bert Callewaert, Jeroen Breckpot, Olivera Djuric, Chiara Baldo, Rikke S. Møller, Isabella Mammi, Livia Garavelli, Gioacchino Scarano, Baris Malbora, Alessandro Iodice, Lucio Giordano, Marina Grasso, Alessandro Pellicciari, Marcella Zollino, Daniele De Brasi, Aurélien Trimouille, Ebtesam M. Abdalla, Samantha A. Schrier Vergano, Ina Schanze, Sébastien Moutton, Anna Kutkowska-Kazmierczak, Agata Fiumara, Andrea Conidi, Emilia Ricci, Duccio Maria Cordelli, Roberta Epifanio, Allan Bayat, Federico Bonvicini, Magdalena Badura-Stronka, Lorenzo Iughetti, Tina Duelund Hjortshøj, Anita Rauch, Vladimir Kuburovic, Giulia Montorsi, Elvis rci Te Valera, Debora Formisano, Stefano Giuseppe Caraffi, Krzysztof Szczaluba, Daniela Santodirocco, Sabine Grønborg, Francesca Faravelli, Maria Antonietta Pisanti, Didier Lacombe, Gijs W. E. Santen, Margherita Silengo, Ivan Ivanovski, Luis G. Tone, Goran Cuturilo, Francesca Mari, Guido Cocchi, Margaret P. Adam, Simonetta Rosato, Chiara Pantaleoni, Patrizia Accorsi, Nicoletta Zanotta, Ewa Obersztyn, Maddalena Baldi, Angelo Selicorni, Alessandra Renieri, Annick Toutain, Mary Beth Dinulos, Petra Muschke, Luigina Spaccini, Luigi Tarani, Igor Prpić, Francesca Rivieri, Koenraad Devriendt, Stefania Bigoni, Robert Smigiel, Anna Luchetti, Federico Raviglione, Martin Zenker, Caterina Lo Rizzo, Salvatore Savasta

Publikováno v: Genetics in Medicine, 20(9), 965-975. Lippincott Williams & Wilkins
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Genetics in Medicine
GENETICS IN MEDICINE
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Volume 20
Issue 9

PurposeMowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594a350d1254cd94b377a69599bd8301
https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9da

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Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease

Autor: Isabella Ceccherini, Margherita Silengo, Elga Fabia Belligni, Roberto Ravazzolo, Giuseppe Martucciello, Girolamo Mattioli, Alessio Pini Prato, Margherita Lerone, Annalisa Adamo, Tiziana Bachetti, Eleonora Di Zanni

Publikováno v: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1863:1770-1777

HSCR is a congenital disorder of the enteric nervous system, characterized by the absence of neurons along a variable length of the gut resulting from loss-of-function RET mutations. Congenital Central Hypoventilation Syndrome (CCHS) is a rare neuroc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da542d2167d4889ad85040925dba2f6d
https://doi.org/10.1016/j.bbadis.2017.04.017

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Prevention and management of hearing loss in syndromic craniosynostosis: A case series

Autor: Annalisa Marinosci, Roberto Albera, Paola Peretta, Margherita Silengo, Federico Dagna, Lorenzo Genitori, Elisa Biamino, Michelangelo Lacilla, Andrea Canale, Giovanni Battista Ferrero

Publikováno v: International Journal of Pediatric Otorhinolaryngology. 85:95-98

Objective To assess the audiological profile in a cohort of children affected by syndromic craniosynostosis. Methods Eleven children with Apert syndrome ( n = 4), Saethre-Chotzen syndrome ( n = 3), Muenke syndrome ( n = 2), Crouzon syndrome ( n = 1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d127ae94e0e8a0c93ead7ec06962e919
https://doi.org/10.1016/j.ijporl.2016.03.038

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Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples

Autor: Cecilia Mancini, Elena Gaidolfi, Cristina Molinatto, Elisa Biamino, Marco Tartaglia, Andrea Ciolfi, Eleonora Di Gregorio, Elisa Giorgio, Simona Cavalieri, Viviana Caputo, Alessandro Bruselles, Alfredo Brusco, Margherita Silengo, Elga Fabia Belligni, Alessandro Calcia, Giovanni Battista Ferrero

Publikováno v: American Journal of Medical Genetics Part A. 170:1772-1779

Whole exome sequencing (WES) is a powerful tool to identify clinically undefined forms of intellectual disability/developmental delay (ID/DD), especially in consanguineous families. Here we report the genetic definition of two sporadic cases, with sy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3e67740fa799a6635f886fec111285d
https://doi.org/10.1002/ajmg.a.37649

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Fetal growth patterns in Beckwith-Wiedemann syndrome

Publikováno v: Clinical Genetics. 90:21-27

We provide data on fetal growth pattern on the molecular subtypes of Beckwith-Wiedemann syndrome (BWS): IC1 gain of methylation (IC1-GoM), IC2 loss of methylation (IC2-LoM), 11p15.5 paternal uniparental disomy (UPD), and CDKN1C mutation. In this obse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bab424132466ac2ea9687ad4d2f1243f
https://doi.org/10.1111/cge.12759

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A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity

Autor: F. Talarico, Simona Cavalieri, Evelise Riberi, Silvia De Rubeis, Roberto Keller, Cecilia Mancini, Giovanni Battista Ferrero, Alessandro Calcia, Marina Gandione, Elisa Giorgio, Alfredo Brusco, Margherita Silengo, Elga Fabia Belligni, Antonio Maria Fea, Eleonora Di Gregorio, Elisa Biamino, Patrizia Pappi

Publikováno v: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 171:290-299

Copy number variation (CNV) has been associated with a variety of neuropsychiatric disorders, including intellectual disability/developmental delay (ID/DD), autism spectrum disorder (ASD), and schizophrenia (SCZ). Often, individuals carrying the same

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e368517e21e54bcc436ca0c1d44e646c
https://doi.org/10.1002/ajmg.b.32406

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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients

Autor: Manuela Napoli, Isabella Mammi, Jeroen Breckpot, Stefano Giuseppe Caraffi, Gioacchino Scarano, Rikke S. Møller, Ebtesam M. Abdalla, Samantha A. Schrier Vergano, Daniela Santodirocco, Sébastien Moutton, Didier Lacombe, Aurélien Trimouille, Maria Luisa Poch-Olive, Chiara Pantaleoni, Roberta Epifanio, Allan Bayat, Massimo Maggi, Margaret P. Adam, Alessandro Iodice, Francesca Faravelli, Livia Garavelli, William B. Dobyns, Patrizia Accorsi, Olivera Djuric, Francesca Rivieri, Nicoletta Zanotta, Elvis Terci Valera, Alex R. Paciorkowski, Debora Formisano, Marina Grasso, Marzia Pollazzon, Koenraad Devriendt, Rosario Pascarella, Giovanni Sorge, Bert Callewaert, Alessandro Pellicciari, Petra Muschke, Luigi Tarani, Chiara Baldo, Luis G. Tone, Sabine Grønborg, Guido Cocchi, Federico Raviglione, Carmela Russo, Lorenzo Iughetti, Angelo Selicorni, Federico Bonvicini, Lucio Giordano, Duccio Maria Cordelli, Salvatore Savasta, Baris Malbora, Margherita Silengo, Ivan Ivanovski, Elga Fabia Belligni, Goran Cuturilo, Marcella Zollino, Annick Toutain, Mary Beth Dinulos

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Genetics in Medicine
Garavelli, L, Ivanovski, I, Caraffi, S G, Santodirocco, D, Pollazzon, M, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Baldo, C, Bayat, A, Belligni, E, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, Devriendt, K, Dinulos, M B, Djuric, O, Epifanio, R, Faravelli, F, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Lacombe, D, Maggi, M, Malbora, B, Mammi, I, Moutton, S, Møller, R S, Muschke, P, Napoli, M, Pantaleoni, C, Pascarella, R, Pellicciari, A, Poch-Olive, M L, Raviglione, F, Rivieri, F, Russo, C, Savasta, S, Scarano, G, Selicorni, A, Silengo, M, Sorge, G, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zollino, M, Dobyns, W B & Paciorkowski, A R 2017, ' Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients ', Genetics in Medicine, vol. 19, no. 6, pp. 691-700 . https://doi.org/10.1038/gim.2016.176
GENETICS IN MEDICINE

PURPOSE: Mowat-Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and congenital malformations, including Hirschsprung disease, genital and eye anomalies, and congenita

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09aa20cba34a99332db2a2bec15c152e
https://lirias.kuleuven.be/handle/123456789/556415

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α-Fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes

Autor: Giovanni Battista Ferrero, Alessandro Mussa, Severo Pagliardini, Giuseppina Baldassarre, Margherita Silengo, Cristina Molinatto, Andrea Corrias, Veronica Pagliardini

Publikováno v: Pediatric Research. 76:544-548

Beckwith-Wiedemann syndrome (BWS) and hemihyperplasia (HH) are overgrowth conditions with predisposition to hepatoblastoma for which early diagnosis patients undergo cancer screening based on determination of the tumor marker α-fetoprotein (αFP). R

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17863de66f3504d490123aa7e366ca2e
https://doi.org/10.1038/pr.2014.126

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