Search Results - "Baban, Anwar"

Facial clues to the photosensitive trichothiodystrophy phenotype in childhood by Pascolini, Giulia, Gaudioso, Federica, Baldi, Marina, Alario, Dario, Dituri, Francesco, Novelli, Antonio, Baban, Anwar

“…Among genodermatoses, trichothiodystrophies (TTDs) are a rare genetically heterogeneous group of syndromic conditions, presenting with skin, hair, and nail…”
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Congenital heart defects in molecularly proven Kabuki syndrome patients by Digilio, Maria Cristina, Gnazzo, Maria, Lepri, Francesca, Dentici, Maria Lisa, Pisaneschi, Elisa, Baban, Anwar, Passarelli, Chiara, Capolino, Rossella, Angioni, Adriano, Novelli, Antonio, Marino, Bruno, Dallapiccola, Bruno

“…The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a…”
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Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results by Calcagni, Giulio, Limongelli, Giuseppe, D'Ambrosio, Angelo, Gesualdo, Francesco, Digilio, M. Cristina, Baban, Anwar, Albanese, Sonia B., Versacci, Paolo, De Luca, Enrica, Ferrero, Giovanni B., Baldassarre, Giuseppina, Agnoletti, Gabriella, Banaudi, Elena, Marek, Jan, Kaski, Juan P., Tuo, Giulia, Russo, M. Giovanna, Pacileo, Giuseppe, Milanesi, Ornella, Messina, Daniela, Marasini, Maurizio, Cairello, Francesca, Formigari, Roberto, Brighenti, Maurizio, Dallapiccola, Bruno, Tartaglia, Marco, Marino, Bruno

“…RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to…”
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Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies by Calcagni, Giulio, MD, PhD, Adorisio, Rachele, MD, Martinelli, Simone, PhD, Grutter, Giorgia, MD, Baban, Anwar, MD, PhD, Versacci, Paolo, MD, PhD, Digilio, Maria Cristina, MD, Drago, Fabrizio, MD, Gelb, Bruce D., MD, Tartaglia, Marco, PhD, Marino, Bruno, MD

“…RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation,…”
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Heart rate reduction strategy using ivabradine in end-stage Duchenne cardiomyopathy by Adorisio, Rachele, Calvieri, Camilla, Cantarutti, Nicoletta, D'Amico, Adele, Catteruccia, Michela, Bertini, Enrico, Baban, Anwar, Filippelli, Sergio, Perri, Gianluigi, Amodeo, Antonio, Drago, Fabrizio

“…End-stage dilated cardiomyopathy (DCM) is the leading cause of morbidity and mortality in patients with Duchenne Muscular Dystrophy (DMD). No studies are…”
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Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice by Mastromoro, Gioia, Calcagni, Giulio, Versacci, Paolo, Putotto, Carolina, Chinali, Marcello, Lambiase, Caterina, Unolt, Marta, Pelliccione, Elena, Anaclerio, Silvia, Caprio, Cinzia, Cioffi, Sara, Bilio, Marchesa, Baban, Anwar, Drago, Fabrizio, Digilio, Maria Cristina, Marino, Bruno, Baldini, Antonio

“…Patients with 22q11 deletion syndrome (22q11.2DS) present, in about 75% of cases, typical patterns of cardiac defects, with a particular involvement on the…”
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Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports by Bernardini, Laura, Gimelli, Stefania, Gervasini, Cristina, Carella, Massimo, Baban, Anwar, Frontino, Giada, Barbano, Giancarlo, Divizia, Maria Teresa, Fedele, Luigi, Novelli, Antonio, Béna, Frédérique, Lalatta, Faustina, Miozzo, Monica, Dallapiccola, Bruno

“…Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia of the uterus and the upper part of vagina due to anomalous development of…”
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Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature by Picciolli, Irene, Ratti, Angelo, Rinaldi, Berardo, Baban, Anwar, Iascone, Maria, Francescato, Gaia, Cappelleri, Alessia, Magliozzi, Monia, Novelli, Antonio, Parlapiano, Giovanni, Colli, Anna Maria, Persico, Nicola, Carugo, Stefano, Mosca, Fabio, Bedeschi, Maria Francesca

“…Dilated cardiomyopathy (DCM) is an etiologically heterogeneous group of diseases of the myocardium. With the rapid evolution in laboratory investigations,…”
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Heterotaxy Syndrome with and without spleen: different infection risk and management by Piano Mortari, Eva, PhD, Baban, Anwar, MD, PhD, Cantarutti, Nicoletta, MD, Bocci, Chiara, MSc, Adorisio, Rachele, MD, Carsetti, Rita, MD, PhD

“…Short Summary We compared the clinical disease and immunological conditions of Heterotaxy syndrome patients with or without spleen and found that asplenia is…”
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Arrhythmias May Hide a Genetic Cardiomyopathy in Left Ventricular Hypertrabeculation in Children: A Single-Center Experience by Battipaglia, Irma, Cantarutti, Nicoletta, Cicenia, Marianna, Adorisio, Rachele, Battista, Virginia, Baban, Anwar, Silvetti, Massimo Stefano, Drago, Fabrizio

“…Left ventricular hypertrabeculation (LVHT) is a myocardial disorder with different clinical manifestations, from total absence of symptoms to heart failure,…”
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Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy by Guerra, Liliana, Magliozzi, Monia, Baban, Anwar, Di Mambro, Corrado, Di Zenzo, Giovanni, Novelli, Antonio, El Hachem, May, Zambruno, Giovanna, Castiglia, Daniele

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Clinical presentation and long‐term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study by Norrish, Gabrielle, Kolt, Gali, Cervi, Elena, Field, Ella, Dady, Kathleen, Ziółkowska, Lidia, Olivotto, Iacopo, Favilli, Silvia, Passantino, Silvia, Limongelli, Giuseppe, Caiazza, Martina, Rubino, Marta, Baban, Anwar, Drago, Fabrizio, Mcleod, Karen, Ilina, Maria, McGowan, Ruth, Stuart, Graham, Bhole, Vinay, Uzun, Orhan, Wong, Amos, Lazarou, Laz, Brown, Elspeth, Daubeney, Piers E.F., Lota, Amrit, Delle Donne, Grazia, Linter, Katie, Mathur, Sujeev, Bharucha, Tara, Adwani, Satish, Searle, Jon, Popoiu, Anca, Jones, Caroline B., Reinhardt, Zdenka, Kaski, Juan Pablo

“…Aims Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been…”
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Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care by Baban, Anwar, Parlapiano, Giovanni, Cicenia, Marianna, Armando, Michela, Franceschini, Alessio, Pacifico, Concettina, Panfili, Arianna, Zinzanella, Gaetano, Romanzo, Antonino, Fusco, Adelaide, Caiazza, Martina, Perri, Gianluigi, Galletti, Lorenzo, Digilio, Maria Cristina, Buonuomo, Paola Sabrina, Bartuli, Andrea, Novelli, Antonio, Raponi, Massimiliano, Limongelli, Giuseppe

“…Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition…”
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Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children by Baban, Anwar, Lodato, Valentina, Parlapiano, Giovanni, di Mambro, Corrado, Adorisio, Rachele, Bertini, Enrico Silvio, Dionisi-Vici, Carlo, Drago, Fabrizio, Martinelli, Diego

“…Neuromuscular disorders (NMDs) are highly heterogenous from both an etiological and clinical point of view. Their signs and symptoms are often multisystemic,…”
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Some Isolated Cardiac Malformations Can Be Related to Laterality Defects by Versacci, Paolo, Pugnaloni, Flaminia, Digilio, Maria Cristina, Putotto, Carolina, Unolt, Marta, Calcagni, Giulio, Baban, Anwar, Marino, Bruno

“…Human beings are characterized by a left⁻right asymmetric arrangement of their internal organs, and the heart is the first organ to break symmetry in the…”
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Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients by Baban, Anwar, Alesi, Viola, Magliozzi, Monia, Parlapiano, Giovanni, Genovese, Silvia, Cicenia, Marianna, Loddo, Sara, Lodato, Valentina, Di Chiara, Luca, Fattori, Fabiana, D’Amico, Adele, Francalanci, Paola, Amodeo, Antonio, Novelli, Antonio, Drago, Fabrizio

“…Filamin C is a protein specifically expressed in myocytes and cardiomyocytes and is involved in several biological functions, including sarcomere contractile…”
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ICD Outcome in Pediatric Cardiomyopathies by Silvetti, Massimo Stefano, Tamburri, Ilaria, Campisi, Marta, Saputo, Fabio Anselmo, Cazzoli, Ilaria, Cantarutti, Nicoletta, Cicenia, Marianna, Adorisio, Rachele, Baban, Anwar, Ravà, Lucilla, Drago, Fabrizio

“…Pediatric patients with cardiomyopathies are at risk of malignant arrhythmias and sudden cardiac death (SCD). An ICD may prevent SCD. The aim of this study was…”
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Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients by Baban, Anwar, Cicenia, Marianna, Magliozzi, Monia, Parlapiano, Giovanni, Cirillo, Marco, Pascolini, Giulia, Fattori, Fabiana, Gnazzo, Maria, Bruno, Pasqualina, De Luca, Lorenzo, Di Chiara, Luca, Francalanci, Paola, Udd, Bjarne, Secinaro, Aurelio, Amodeo, Antonio, Bertini, Enrico Silvio, Savarese, Marco, Drago, Fabrizio, Novelli, Antonio

“…Monoallelic and biallelic truncating variants ( ) may be responsible for a wide spectrum of musculoskeletal and cardiac disorders with different age at onset…”
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Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome by Calcagni, Giulio, Ferrigno, Federica, Franceschini, Alessio, Dentici, Maria Lisa, Capolino, Rossella, Sinibaldi, Lorenzo, Minotti, Chiara, Micalizzi, Alessia, Alesi, Viola, Novelli, Antonio, Baban, Anwar, Parlapiano, Giovanni, Coviello, Domenico, Versacci, Paolo, Putotto, Carolina, Chinali, Marcello, Drago, Fabrizio, Bartuli, Andrea, Marino, Bruno, Digilio, Maria Cristina

“…Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and…”
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First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report by Baban, Anwar, Magliozzi, Monia, Loeys, Bart, Adorisio, Rachele, Alesi, Viola, Secinaro, Aurelio, Corica, Bernadette, Vricella, Luca, Dietz, Harry C, Drago, Fabrizio, Novelli, Antonio, Amodeo, Antonio

“…Loeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial…”
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