Search Results - "Crosti, Francesca"

Refining the Phenotype of Recurrent Rearrangements of Chromosome 16 by Redaelli, Serena, Maitz, Silvia, Crosti, Francesca, Sala, Elena, Villa, Nicoletta, Spaccini, Luigina, Selicorni, Angelo, Rigoldi, Miriam, Conconi, Donatella, Dalprà, Leda, Roversi, Gaia, Bentivegna, Angela

“…Chromosome 16 is one of the most gene-rich chromosomes of our genome, and 10% of its sequence consists of segmental duplications, which give instability and…”
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Characterization of Chromosomal Breakpoints in 12 Cases with 8p Rearrangements Defines a Continuum of Fragility of the Region by Redaelli, Serena, Conconi, Donatella, Sala, Elena, Villa, Nicoletta, Crosti, Francesca, Roversi, Gaia, Catusi, Ilaria, Valtorta, Chiara, Recalcati, Maria Paola, Dalprà, Leda, Lavitrano, Marialuisa, Bentivegna, Angela

“…Improvements in microarray-based comparative genomic hybridization technology have allowed for high-resolution detection of genome wide copy number…”
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Human Chromosome 18 and Acrocentrics: A Dangerous Liaison by Villa, Nicoletta, Redaelli, Serena, Sala, Elena, Conconi, Donatella, Romitti, Lorenza, Manfredini, Emanuela, Crosti, Francesca, Roversi, Gaia, Lavitrano, Marialuisa, Rodeschini, Ornella, Recalcati, Maria Paola, Piazza, Rocco, Dalprà, Leda, Riva, Paola, Bentivegna, Angela

“…The presence of thousands of repetitive sequences makes the centromere a fragile region subject to breakage. In this study we collected 31 cases of…”
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Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome by Bestetti, Ilaria, Crippa, Milena, Sironi, Alessandra, Tumiatti, Francesca, Masciadri, Maura, Smeland, Marie Falkenberg, Naik, Swati, Murch, Oliver, Bonati, Maria Teresa, Spano, Alice, Cattaneo, Elisa, Mariani, Milena, Gotta, Fabio, Crosti, Francesca, Cavalli, Pietro, Pantaleoni, Chiara, Natacci, Federica, Bedeschi, Maria Francesca, Milani, Donatella, Maitz, Silvia, Selicorni, Angelo, Spaccini, Luigina, Peron, Angela, Russo, Silvia, Larizza, Lidia, Low, Karen, Finelli, Palma

“…KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 ( ) haploinsufficiency. Here, we report the molecular…”
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Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases by Redaelli, Serena, Conconi, Donatella, Villa, Nicoletta, Sala, Elena, Crosti, Francesca, Corti, Cecilia, Catusi, Ilaria, Garzo, Maria, Romitti, Lorenza, Martinoli, Emanuela, Patrizi, Antonella, Malgara, Roberta, Recalcati, Maria Paola, Dalprà, Leda, Lavitrano, Marialuisa, Riva, Paola, Roversi, Gaia, Bentivegna, Angela

“…Satellited non-acrocentric autosomal chromosomes (ps-qs-chromosomes) are the result of an interchange between sub- or telomeric regions of autosomes and the p…”
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Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation by Villa, Nicoletta, Redaelli, Serena, Farina, Stefania, Sala, Elena, Crosti, Francesca, Cozzolino, Sabrina, Verderio, Maria, Dalprà, Leda, Roversi, Gaia, Bentivegna, Angela, Cazzaniga, Giovanni, Lavitrano, Marialuisa, Conconi, Donatella

“…When an increased nuchal translucency (>3.00 mm) is observed during the echographic examination of a foetus in the first trimester of pregnancy, an increased…”
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Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators? by Redaelli, Serena, Grati, Francesca Romana, Tritto, Viviana, Giannuzzi, Giuliana, Recalcati, Maria Paola, Sala, Elena, Villa, Nicoletta, Crosti, Francesca, Roversi, Gaia, Malvestiti, Francesca, Zanatta, Valentina, Repetti, Elena, Rodeschini, Ornella, Valtorta, Chiara, Catusi, Ilaria, Romitti, Lorenza, Martinoli, Emanuela, Conconi, Donatella, Dalprà, Leda, Lavitrano, Marialuisa, Riva, Paola, Bentivegna, Angela

“…The largest multi-gene family in metazoans is the family of olfactory receptor (OR) genes. Human ORs are organized in clusters over most chromosomes and seem…”
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Claudin-1 is a p63 target gene with a crucial role in epithelial development by Lopardo, Teresa, Lo Iacono, Nadia, Marinari, Barbara, Giustizieri, Maria L, Cyr, Daniel G, Merlo, Giorgio, Crosti, Francesca, Costanzo, Antonio, Guerrini, Luisa

“…The epidermis of the skin is a self-renewing, stratified epithelium that functions as the interface between the human body and the outer environment, and acts…”
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Cytogenetics of Premature Ovarian Failure : An Investigation on 269 Affected Women by Panzeri, Elena, Conconi, Donatella, Baronchelli, Simona, Bentivegna, Angela, Redaelli, Serena, Lissoni, Sara, Saccheri, Fabiana, Villa, Nicoletta, Crosti, Francesca, Sala, Elena, Martinoli, Emanuela, Volontè, Marinella, Marozzi, Anna, Dalprà, Leda

“…The importance of X chromosome in the aetiology of premature ovarian failure (POF) is well-known but in many cases POF still remains idiopathic. Chromosome…”
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A new function of microtubule-associated protein tau: Involvement in chromosome stability by Rossi, Giacomina, Dalprà, Leda, Crosti, Francesca, Lissoni, Sara, Sciacca, Francesca L., Catania, Marcella, Mangieri, Michela, Giaccone, Giorgio, Croci, Danilo, Tagliavini, Fabrizio

“…Tau is a microtubule-associated protein that promotes assembly and stabilization of cytoskeleton microtubules. It is mostly expressed in neuronal and glial…”
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Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report by Cococcioni, Lucia, Paccagnini, Susanna, Pozzi, Elena, Spaccini, Luigina, Cattaneo, Elisa, Redaelli, Serena, Crosti, Francesca, Zuccotti, Gian Vincenzo

“…Currarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis. We report the case of a child that…”
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Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases by Conconi, Donatella, Villa, Nicoletta, Redaelli, Serena, Sala, Elena, Crosti, Francesca, Maitz, Silva, Rigoldi, Miriam, Parini, Rossella, Dalprà, Leda, Lavitrano, Marialuisa, Roversi, Gaia

“…Copy number variations (CNVs) are largely known today, but their position is rarely established by fluorescence in situ hybridization (FISH) or karyotype…”
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Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome by Pozzi, Elisa, MD, Vergani, Patrizia, MD, Dalprà, Leda, PhD, Combi, Romina, PhD, Silvestri, Daniela, PhD, Crosti, Francesca, PhD, Dell′Orto, Mariagrazia, MD, Valsecchi, Maria Grazia, PhD

“…Objective The purpose of this research was to study factors that are involved in centromeric hypomethylation in the pathogenesis of Down syndrome (DS). Study…”
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Investigating the role of X chromosome breakpoints in premature ovarian failure by Baronchelli, Simona, Villa, Nicoletta, Redaelli, Serena, Lissoni, Sara, Saccheri, Fabiana, Panzeri, Elena, Conconi, Donatella, Bentivegna, Angela, Crosti, Francesca, Sala, Elena, Bertola, Francesca, Marozzi, Anna, Pedicini, Antonio, Ventruto, Marialuisa, Police, Maria Adalgisa, Dalprà, Leda

“…The importance of the genetic factor in the aetiology of premature ovarian failure (POF) is emphasized by the high percentage of familial cases and X…”
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Mapping of candidate region for chordoma development to 1p36.13 by LOH analysis by Riva, Paola, Crosti, Francesca, Orzan, Francesca, Dalprà, Leda, Mortini, Pietro, Parafioriti, Antonina, Pollo, Bianca, Fuhrman Conti, Anna Maria, Miozzo, Monica, Larizza, Lidia

“…Various cytogenetic and molecular findings indicate 1p36 loss as a consistent change in sporadic and inherited chordoma, a rare embryogenetic neoplasm arising…”
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CATSHL syndrome, a new family and phenotypic expansion by Cannova, Silvia, Meossi, Camilla, Grilli, Federico, Milani, Donatella, Alberti, Federica, Cesaretti, Claudia, Marchisio, Paola Giovanna, Crosti, Francesca, Pezzani, Lidia

“…We report the case of a 12‐year‐old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and…”
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Hemoglobin Monza: A New Variant of Unstable Hemoglobin by Civettini, Ivan, Corti, Paola, Zappaterra, Arianna, Messina, Amedeo, Aroldi, Andrea, Biondi, Andrea, Cavalca, Fabrizio, Crosti, Francesca, Ferrari, Giulia Maria, Mologni, Luca, Piperno, Alberto, Ramazzotti, Daniele, Zambon, Alfonso, Rossi, Fabio, Scollo, Chiara, Gambacorti-Passerini, Carlo

“…Introduction: Unstable hemoglobins are variants with structural abnormalities; while not hindering protein formation, they lead to protein destabilization and…”
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Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases by Ciaccio, Claudia, Redaelli, Serena, Bentivegna, Angela, Marelli, Susan, Crosti, Francesca, Sala, Elena M, Cavallari, Ugo

“…Unbalanced X;autosome translocations are a rare occurrence with a wide variability in clinical presentation in which the X chromosome unbalance is usually…”
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Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7 by Villa, Nicoletta, Redaelli, Serena, Farina, Stefania, Conconi, Donatella, Sala, Elena Maria, Crosti, Francesca, Mariani, Silvana, Colombo, Carla Maria, Dalprà, Leda, Lavitrano, Marialuisa, Bentivegna, Angela, Roversi, Gaia

“…Complex chromosomal rearrangements are rare events compatible with survival, consisting of an imbalance and/or position effect of one or more genes, that…”
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Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype by Cesaretti, Claudia, Spaccini, Luigina, Righini, Andrea, Parazzini, Cecilia, Conte, Giorgio, Crosti, Francesca, Redaelli, Serena, Bulfamante, Gaetano, Avagliano, Laura, Rustico, Mariangela

“…The 5q14.3 duplication is a rare condition comprising speech and developmental delay, microcephaly, and mild ventriculomegaly. The region 5q14.3 contains…”
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