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29 results on '"Faletra, Flavio"'

1. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Author

Bogaert, Elke, primary, Garde, Aurore, additional, Gautier, Thierry, additional, Rooney, Kathleen, additional, Duffourd, Yannis, additional, LeBlanc, Pontus, additional, van Reempts, Emma, additional, Tran Mau-Them, Frederic, additional, Wentzensen, Ingrid M., additional, Au, Kit Sing, additional, Richardson, Kate, additional, Northrup, Hope, additional, Gatinois, Vincent, additional, Geneviève, David, additional, Louie, Raymond J., additional, Lyons, Michael J., additional, Laulund, Lone Walentin, additional, Brasch-Andersen, Charlotte, additional, Maxel Juul, Trine, additional, El It, Fatima, additional, Marle, Nathalie, additional, Callier, Patrick, additional, Relator, Raissa, additional, Haghshenas, Sadegheh, additional, McConkey, Haley, additional, Kerkhof, Jennifer, additional, Cesario, Claudia, additional, Novelli, Antonio, additional, Brunetti-Pierri, Nicola, additional, Pinelli, Michele, additional, Pennamen, Perrine, additional, Naudion, Sophie, additional, Legendre, Marine, additional, Courdier, Cécile, additional, Trimouille, Aurelien, additional, Fenzy, Martine Doco, additional, Pais, Lynn, additional, Yeung, Alison, additional, Nugent, Kimberly, additional, Roeder, Elizabeth R., additional, Mitani, Tadahiro, additional, Posey, Jennifer E., additional, Calame, Daniel, additional, Yonath, Hagith, additional, Rosenfeld, Jill A., additional, Musante, Luciana, additional, Faletra, Flavio, additional, Montanari, Francesca, additional, Sartor, Giovanna, additional, Vancini, Alessandra, additional, Seri, Marco, additional, Besmond, Claude, additional, Poirier, Karine, additional, Hubert, Laurence, additional, Hemelsoet, Dimitri, additional, Munnich, Arnold, additional, Lupski, James R., additional, Philippe, Christophe, additional, Thauvin-Robinet, Christel, additional, Faivre, Laurence, additional, Sadikovic, Bekim, additional, Govin, Jérôme, additional, Dermaut, Bart, additional, and Vitobello, Antonio, additional

Published
2023
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2. A new neurodevelopmental disorder linked to heterozygous variants in UNC79

Author

Allan Bayat, Zhenjiang Liu, Sheng Luo, Christina D. Fenger, Anne F. Hojte, Bertrand Isidor, Benjamin Cogne, Austin Larson, Caterina Zanus, Faletra Flavio, Boris Keren, Luciana Musante, Isabelle Gourfinkel-An, Charles Perrine, Caroline Demily, Gaeton Lesca, Weiping Liao, and Dejian Ren

Subjects
Genetics (clinical)
Published
2023

6. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Author

Radio, Francesca Clementina, primary, Pang, Kaifang, additional, Ciolfi, Andrea, additional, Levy, Michael A., additional, Hernández-García, Andrés, additional, Pedace, Lucia, additional, Pantaleoni, Francesca, additional, Liu, Zhandong, additional, de Boer, Elke, additional, Jackson, Adam, additional, Bruselles, Alessandro, additional, McConkey, Haley, additional, Stellacci, Emilia, additional, Lo Cicero, Stefania, additional, Motta, Marialetizia, additional, Carrozzo, Rosalba, additional, Dentici, Maria Lisa, additional, McWalter, Kirsty, additional, Desai, Megha, additional, Monaghan, Kristin G., additional, Telegrafi, Aida, additional, Philippe, Christophe, additional, Vitobello, Antonio, additional, Au, Margaret, additional, Grand, Katheryn, additional, Sanchez-Lara, Pedro A., additional, Baez, Joanne, additional, Lindstrom, Kristin, additional, Kulch, Peggy, additional, Sebastian, Jessica, additional, Madan-Khetarpal, Suneeta, additional, Roadhouse, Chelsea, additional, MacKenzie, Jennifer J., additional, Monteleone, Berrin, additional, Saunders, Carol J., additional, Jean Cuevas, July K., additional, Cross, Laura, additional, Zhou, Dihong, additional, Hartley, Taila, additional, Sawyer, Sarah L., additional, Monteiro, Fabíola Paoli, additional, Secches, Tania Vertemati, additional, Kok, Fernando, additional, Schultz-Rogers, Laura E., additional, Macke, Erica L., additional, Morava, Eva, additional, Klee, Eric W., additional, Kemppainen, Jennifer, additional, Iascone, Maria, additional, Selicorni, Angelo, additional, Tenconi, Romano, additional, Amor, David J., additional, Pais, Lynn, additional, Gallacher, Lyndon, additional, Turnpenny, Peter D., additional, Stals, Karen, additional, Ellard, Sian, additional, Cabet, Sara, additional, Lesca, Gaetan, additional, Pascal, Joset, additional, Steindl, Katharina, additional, Ravid, Sarit, additional, Weiss, Karin, additional, Castle, Alison M.R., additional, Carter, Melissa T., additional, Kalsner, Louisa, additional, de Vries, Bert B.A., additional, van Bon, Bregje W., additional, Wevers, Marijke R., additional, Pfundt, Rolph, additional, Stegmann, Alexander P.A., additional, Kerr, Bronwyn, additional, Kingston, Helen M., additional, Chandler, Kate E., additional, Sheehan, Willow, additional, Elias, Abdallah F., additional, Shinde, Deepali N., additional, Towne, Meghan C., additional, Robin, Nathaniel H., additional, Goodloe, Dana, additional, Vanderver, Adeline, additional, Sherbini, Omar, additional, Bluske, Krista, additional, Hagelstrom, R. Tanner, additional, Zanus, Caterina, additional, Faletra, Flavio, additional, Musante, Luciana, additional, Kurtz-Nelson, Evangeline C., additional, Earl, Rachel K., additional, Anderlid, Britt-Marie, additional, Morin, Gilles, additional, van Slegtenhorst, Marjon, additional, Diderich, Karin E.M., additional, Brooks, Alice S., additional, Gribnau, Joost, additional, Boers, Ruben G., additional, Finestra, Teresa Robert, additional, Carter, Lauren B., additional, Rauch, Anita, additional, Gasparini, Paolo, additional, Boycott, Kym M., additional, Barakat, Tahsin Stefan, additional, Graham, John M., additional, Faivre, Laurence, additional, Banka, Siddharth, additional, Wang, Tianyun, additional, Eichler, Evan E., additional, Priolo, Manuela, additional, Dallapiccola, Bruno, additional, Vissers, Lisenka E.L.M., additional, Sadikovic, Bekim, additional, Scott, Daryl A., additional, Holder, Jimmy Lloyd, additional, and Tartaglia, Marco, additional

Published
2021
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9. Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

Author

Lenarduzzi, Stefania, primary, Morgan, Anna, additional, Faletra, Flavio, additional, Cappellani, Stefania, additional, Morgutti, Marcello, additional, Mezzavilla, Massimo, additional, Peruzzi, Adelaide, additional, Ghiselli, Sara, additional, Ambrosetti, Umberto, additional, Graziano, Claudio, additional, Seri, Marco, additional, Gasparini, Paolo, additional, and Girotto, Giorgia, additional

Published
2019
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10. Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

Author

Morgan, Anna, primary, Gandin, Ilaria, additional, Belcaro, Chiara, additional, Palumbo, Pietro, additional, Palumbo, Orazio, additional, Biamino, Elisa, additional, Dal Col, Valentina, additional, Laurini, Erik, additional, Pricl, Sabrina, additional, Bosco, Paolo, additional, Carella, Massimo, additional, Ferrero, Giovanni Battista, additional, Romano, Corrado, additional, d’Adamo, Adamo Pio, additional, Faletra, Flavio, additional, and Vozzi, Diego, additional

Published
2015
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11. Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype

Author

Lougaris, Vassilios, primary, Faletra, Flavio, additional, Lanzi, Gaetana, additional, Vozzi, Diego, additional, Marcuzzi, Annalisa, additional, Valencic, Erica, additional, Piscianz, Elisa, additional, Bianco, AnnaMonica, additional, Girardelli, Martina, additional, Baronio, Manuela, additional, Loganes, Claudia, additional, Fasth, Anders, additional, Salvini, Filippo, additional, Trizzino, Antonino, additional, Moratto, Daniele, additional, Facchetti, Fabio, additional, Giliani, Silvia, additional, Plebani, Alessandro, additional, and Tommasini, Alberto, additional

Published
2015
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12. Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

Author

Gandin, Ilaria, primary, Faletra, Flavio, additional, Faletra, Francesca, additional, Carella, Massimo, additional, Pecile, Vanna, additional, Ferrero, Giovanni B., additional, Biamino, Elisa, additional, Palumbo, Pietro, additional, Palumbo, Orazio, additional, Bosco, Paolo, additional, Romano, Corrado, additional, Belcaro, Chiara, additional, Vozzi, Diego, additional, and d’Adamo, Adamo P., additional

Published
2015
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13. Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations

Author

Gandin, Ilaria, primary, Faletra, Flavio, additional, Faletra, Francesca, additional, Carella, Massimo, additional, Pecile, Vanna, additional, Ferrero, Giovanni B., additional, Biamino, Elisa, additional, Palumbo, Pietro, additional, Palumbo, Orazio, additional, Bosco, Paolo, additional, Romano, Corrado, additional, Belcaro, Chiara, additional, Vozzi, Diego, additional, and d’Adamo, Adamo P., additional

Published
2015
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15. A Familial non-itching cholestasis

Author

Matarazzo, Lorenza, primary, Martelossi, Stefano, additional, Chiaffoni, Gian Paolo, additional, Faletra, Flavio, additional, Zanon, Davide, additional, Maggiore, Giuseppe, additional, and Ventura, Alessandro, additional

Published
2014
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20. Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort

Author

Faletra, Flavio, primary, Athanasakis, Emmanouil, additional, Morgan, Anna, additional, Biarnés, Xevi, additional, Fornasier, Federico, additional, Parini, Rossella, additional, Furlan, Francesca, additional, Boiani, Arianna, additional, Maiorana, Arianna, additional, Dionisi-Vici, Carlo, additional, Giordano, Laura, additional, Burlina, Alberto, additional, Ventura, Alessandro, additional, and Gasparini, Paolo, additional

Published
2013
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21. Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations

Author

Faletra, Flavio, primary, Snider, Kara, additional, Shyng, Show-Ling, additional, Bruno, Irene, additional, Athanasakis, Emmanouil, additional, Gasparini, Paolo, additional, Dionisi-Vici, Carlo, additional, Ventura, Alessandro, additional, Zhou, Qing, additional, Stanley, Charles A., additional, and Burlina, Alberto, additional

Published
2013
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25. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Author

Elke Bogaert, Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc, Emma van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, Kate Richardson, Hope Northrup, Vincent Gatinois, David Geneviève, Raymond J. Louie, Michael J. Lyons, Lone Walentin Laulund, Charlotte Brasch-Andersen, Trine Maxel Juul, Fatima El It, Nathalie Marle, Patrick Callier, Raissa Relator, Sadegheh Haghshenas, Haley McConkey, Jennifer Kerkhof, Claudia Cesario, Antonio Novelli, Nicola Brunetti-Pierri, Michele Pinelli, Perrine Pennamen, Sophie Naudion, Marine Legendre, Cécile Courdier, Aurelien Trimouille, Martine Doco Fenzy, Lynn Pais, Alison Yeung, Kimberly Nugent, Elizabeth R. Roeder, Tadahiro Mitani, Jennifer E. Posey, Daniel Calame, Hagith Yonath, Jill A. Rosenfeld, Luciana Musante, Flavio Faletra, Francesca Montanari, Giovanna Sartor, Alessandra Vancini, Marco Seri, Claude Besmond, Karine Poirier, Laurence Hubert, Dimitri Hemelsoet, Arnold Munnich, James R. Lupski, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Bekim Sadikovic, Jérôme Govin, Bart Dermaut, Antonio Vitobello, Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yanni, Leblanc, Pontu, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M, Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J, Lyons, Michael J, Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, Mcconkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R, Mitani, Tadahiro, Posey, Jennifer E, Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A, Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, and Vitobello, Antonio

Subjects
SRSF1, splicing, epigenetic signature, Medicine and Health Sciences, Genetics, Drosophila, neurodevelopmental disorder, Genetics (clinical), haploinsufficiency
Abstract

SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both constitutive and alternative splicing. The complete loss of this proto-oncogene in mice is embryonically lethal. Through international data sharing, we identified 17 individuals (10 females and 7 males) with a neurodevelopmental disorder (NDD) with heterozygous germline SRSF1 variants, mostly de novo, including three frameshift variants, three nonsense variants, seven missense variants, and two microdeletions within region 17q22 encompassing SRSF1. Only in one family, the de novo origin could not be established. All individuals featured a recurrent phenotype including developmental delay and intellectual disability (DD/ID), hypotonia, neurobehavioral problems, with variable skeletal (66.7%) and cardiac (46%) anomalies. To investigate the functional consequences of SRSF1 variants, we performed in silico structural modeling, developed an in vivo splicing assay in Drosophila, and carried out episignature analysis in blood-derived DNA from affected individuals. We found that all loss-of-function and 5 out of 7 missense variants were pathogenic, leading to a loss of SRSF1 splicing activity in Drosophila, correlating with a detectable and specific DNA methylation episignature. In addition, our orthogonal in silico, in vivo, and epigenetics analyses enabled the separation of clearly pathogenic missense variants from those with uncertain significance. Overall, these results indicated that haploinsufficiency of SRSF1 is responsible for a syndromic NDD with ID due to a partial loss of SRSF1-mediated splicing activity.

Published
2023

26. A Child With Self-Improving Hypotonia: Look at the Skin!

Author

Anna Agrusti, Rosaura Conti, Flavio Faletra, Andrea Magnolato, Egidio Barbi, Irene Bruno, Marina Colombi, Ester Conversano, Conversano, Ester, Agrusti, Anna, Conti, Rosaura, Magnolato, Andrea, Bruno, Irene, Colombi, Marina, Barbi, Egidio, and Faletra, Flavio

Subjects
Pediatrics, medicine.medical_specialty, Muscle Hypotonia, Contusions, Kyphosis, Scoliosis, Consanguinity, Kyphosi, medicine, Ehlers-Danlos Syndrome, Humans, Infant, Mutation, Peptidylprolyl Isomerase, Peptidylprolyl isomerase, business.industry, Contusion, medicine.disease, Hypotonia, Ehlers–Danlos syndrome, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), medicine.symptom, business, Human
Abstract

N/A

Published
2020

27. Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism

Author

Flavio Faletra, Paolo Gasparini, Vanna Pecile, Maria Santa Rocca, Raffaella Devescovi, Rocca, Maria Santa, Faletra, Flavio, Devescovi, Raffaella, Gasparini, Paolo, and Pecile, Vanna

Subjects
Male, Muscle Hypotonia, Developmental Disabilitie, Developmental Disabilities, Cryptorchidism, Deletion 2p23, DTNB, SNP array, Child, Preschool, Comparative Genomic Hybridization, Facies, Humans, Infant, Phenotype, Polymorphism, Single Nucleotide, Chromosome Deletion, Chromosomes, Human, Pair 2, Genetics, Genetics (clinical), Biology, Chromosomes, Genetic, medicine, Polymorphism, Dysmorphic facial features, Child, Preschool, Gtg banding, Chromosome, Single Nucleotide, General Medicine, Facie, Hypotonia, Pair 2, Chromosomal region, medicine.symptom, Human, Comparative genomic hybridization
Abstract

Deletions of the short arm of chromosome 2 are exceedingly rare and only nine cases involving regions from 2p23 to 2pter have been reported to date. Most of these deletions had only been analysed by GTG banding. Here, we report an interstitial de novo deletion resulting in a microdeletion of 3.9 Mb involving 2p23.2-p23.3 segment, detected by SNP-array analysis, in a 5 year-old boy showing hypotonia, over- weight, dysmorphic facial features and cryptorchidism. We compared the clinical features of the present case to previously described patients with deletions within this chromosomal region. Our case adds new information to the deletion of the distal part of chromosome 2p improving the knowledge on this rearrangement.

Published
2013

28. Contribution of SNP arrays in diagnosis of deletion 2p11.2–p12

Author

Paolo Gasparini, Antonella Fabretto, Vanna Pecile, Maria Santa Rocca, Aldo Skabar, Flavio Faletra, Ombretta Carlet, Rocca, Maria Santa, Fabretto, Antonella, Faletra, Flavio, Carlet, Ombretta, Skabar, Aldo, Gasparini, Paolo, and Pecile, Vanna

Subjects
LRRTM1, Biology, Polymorphism, Single Nucleotide, Microdeletion 2p11.2-p12, SNP array analysis, Intellectual Disability, Genetics, medicine, SNP array analysi, Humans, SNP, Abnormalities, Multiple, SPG31, Child, Snp array analysis, Gene, Oligonucleotide Array Sequence Analysis, Sequence Deletion, Chromosome, Karyotype, General Medicine, Chromosomes, Human, Pair 2, Speech delay, REEP1, Female, medicine.symptom, Haploinsufficiency
Abstract

Deletions of the short arm of chromosome 2 are exceedingly rare, having been reported in few patients. Fur- thermore most cases with deletion in 2p11.2–p12 have been studied using standard karyotype and so it is not possible to delineate the precise size of deletions. Here, we describe a 9-year-old girl with a 9.4 Mb de novo interstitial deletion of region 2p11.2–p12 identified by SNP array analysis. The deleted region encompasses over 40 known genes, including LRRTM1, CTNNA2 and REEP1, haploinsuffi- ciency of which could explain some clinical features of this patient such as mental retardation, speech delay and gait abnormalities. A comparison of our case with previously reported patients who present deletions in 2p11.2–p12 was carried out. Our case adds new information to the deletion of 2p11.2–p12, improving the knowledge on this rearrangement.

Published
2012

29. A Brain and Heart Connection: X-Linked Periventricular Heterotopia

Author

Caterina Zanus, Flavio Faletra, Irene Bruno, Alessandro Ventura, Samuele Naviglio, Naviglio, Samuele, Bruno, Irene, Zanus, Caterina, Faletra, Flavio, and Ventura, Alessandro

Subjects
Epilepsy, Adolescent, business.industry, x-linked periventricular heterotopia, Filamins, DNA Mutational Analysis, Brain, Anatomy, Magnetic Resonance Imaging, Diagnosis, Differential, Periventricular Nodular Heterotopia, Mutation, Pediatrics, Perinatology and Child Health, Nodular heterotopia, Humans, Medicine, Female, Connection (algebraic framework), business
Abstract

N/A

Published
2015

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