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Your search keyword '"Ferrero, Giovanni Battista"' showing total 21 results
Start Over Author "Ferrero, Giovanni Battista" Journal american journal of medical genetics part a
21 results on '"Ferrero, Giovanni Battista"'

1. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

Author

Sy, Mary R., primary, Chauhan, Jaynee, additional, Prescott, Katrina, additional, Imam, Aliza, additional, Kraus, Alison, additional, Beleza, Ana, additional, Salkeld, Lee, additional, Hosdurga, Saraswati, additional, Parker, Michael, additional, Vasudevan, Pradeep, additional, Islam, Lily, additional, Goel, Himanshu, additional, Bain, Nicole, additional, Park, Soo‐Mi, additional, Mohammed, Shehla, additional, Dieterich, Klaus, additional, Coutton, Charles, additional, Satre, Véronique, additional, Vieville, Gaëlle, additional, Donaldson, Alan, additional, Beneteau, Claire, additional, Ghoumid, Jamal, additional, Van Den Bogaert, Kris, additional, Boogaerts, Anneleen, additional, Boudry, Elise, additional, Vanlerberghe, Clémence, additional, Petit, Florence, additional, Bernardini, Laura, additional, Torres, Barbara, additional, Mattina, Teresa, additional, Carli, Diana, additional, Mandrile, Giorgia, additional, Pinelli, Michele, additional, Brunetti‐Pierri, Nicola, additional, Neas, Katherine, additional, Beddow, Rachel, additional, Tørring, Pernille M., additional, Faletra, Flavio, additional, Spedicati, Beatrice, additional, Gasparini, Paolo, additional, Mussa, Alessandro, additional, Ferrero, Giovanni Battista, additional, Lampe, Anne, additional, Lam, Wayne, additional, Bi, Weimin, additional, Bacino, Carlos A., additional, Kuwahara, Akela, additional, Bush, Jeffrey O., additional, Zhao, Xiaonan, additional, Luna, Pamela N., additional, Shaw, Chad A., additional, Rosenfeld, Jill A., additional, and Scott, Daryl A., additional

Published
2022
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2. Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review

Author

Pavinato, Lisa, primary, Trajkova, Slavica, additional, Grosso, Enrico, additional, Giorgio, Elisa, additional, Bruselles, Alessandro, additional, Radio, Francesca Clementina, additional, Pippucci, Tommaso, additional, Dimartino, Paola, additional, Tartaglia, Marco, additional, Petlichkovski, Aleksandar, additional, De Rubeis, Silvia, additional, Buxbaum, Joseph, additional, Ferrero, Giovanni Battista, additional, Keller, Roberto, additional, and Brusco, Alfredo, additional

Published
2021
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5. Cover Image, Volume 179A, Number 9, September 2019

Author

Gazzin, Andrea, primary, Carli, Diana, additional, Sirchia, Fabio, additional, Molinatto, Cristina, additional, Cardaropoli, Simona, additional, Palumbo, Giuseppe, additional, Zampino, Giuseppe, additional, Ferrero, Giovanni Battista, additional, and Mussa, Alessandro, additional

Published
2019
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9. Cover Image, Volume 170A, Number 7, July 2016

Author

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

Published
2016
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10. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples

Author

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

Published
2016
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12. Periventricular nodular heterotopia in Smith‐Magenis syndrome

Author

Capra, Valeria, primary, Biancheri, Roberta, additional, Morana, Giovanni, additional, Striano, Pasquale, additional, Novara, Francesca, additional, Ferrero, Giovanni Battista, additional, Boeri, Luca, additional, Celle, Maria Elena, additional, Mancardi, Maria Margherita, additional, Zuffardi, Orsetta, additional, Parrini, Elena, additional, and Guerrini, Renzo, additional

Published
2014
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13. Prevalence of beckwith–wiedemann syndrome in North West of Italy

Author

Mussa, Alessandro, primary, Russo, Silvia, additional, De Crescenzo, Agostina, additional, Chiesa, Nicoletta, additional, Molinatto, Cristina, additional, Selicorni, Angelo, additional, Richiardi, Lorenzo, additional, Larizza, Lidia, additional, Silengo, Margherita Cirillo, additional, Riccio, Andrea, additional, and Ferrero, Giovanni Battista, additional

Published
2013
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14. Progressive extreme heterotopic calcification

Author

Silengo, Margherita, primary, Defilippi, Claudio, additional, Belligni, Elga, additional, Biamino, Elisa, additional, Flex, Elisabetta, additional, Brusco, Alfredo, additional, Ferrero, Giovanni Battista, additional, Tartaglia, Marco, additional, and Hennekam, Raoul C., additional

Published
2013
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16. Truncus arteriosus and isochromosome 8q

Author

Silengo, Margherita, primary, Rulli, Immacolata, additional, Delmonaco, Angelo Giovanni, additional, Ferrero, Giovanni Battista, additional, Pucci, Angela, additional, and Sanna, Remonda, additional

Published
2005
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19. Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5).

Author

Innella G, Greco D, Carli D, Magini P, Giorgio E, Galesi O, Ferrero GB, Romano C, Brusco A, and Graziano C

Subjects
Adolescent, Adult, Aged, Child, Child, Preschool, Female, Humans, Male, Middle Aged, Neurodevelopmental Disorders diagnosis, Neurodevelopmental Disorders pathology, DNA-Binding Proteins genetics, Genetic Predisposition to Disease, Neurodevelopmental Disorders genetics, SOXD Transcription Factors genetics
Published
2021
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20. Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.

Author

Baldassarre G, Mussa A, Banaudi E, Rossi C, Tartaglia M, Silengo M, and Ferrero GB

Subjects
Electroencephalography, Heart Defects, Congenital genetics, Humans, Intellectual Disability genetics, Italy, Magnetic Resonance Imaging, Male, Heart Defects, Congenital pathology, Intellectual Disability pathology, Intracellular Signaling Peptides and Proteins genetics, Loose Anagen Hair Syndrome genetics, Loose Anagen Hair Syndrome pathology, Mutation, Missense genetics, Noonan Syndrome genetics, Noonan Syndrome pathology, Phenotype
Abstract

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) is a developmental disorder clinically related to Noonan syndrome (NS) and characterized by facial dysmorphisms, postnatal growth retardation, cardiac anomalies (in particular dysplasia of the mitral valve and septal defects), variable neurocognitive impairment, and florid ectodermal features. A distinctive trait of NS/LAH is its association with easily pluckable, slow growing, sparse, and thin hair. This rare condition is due to the invariant c.4A > G missense (p.Ser2Gly) change in SHOC2, which encodes a regulatory protein that participate in RAS signaling. Here we report two patients with molecularly confirmed NS/LAH, with extremely different phenotypic expression, in particular concerning the severity of the cardiac phenotype and neurocognitive profile. While the first available clinical records outlined a relatively homogeneous phenotype in NS/LAH, the present data emphasize that the phenotype spectrum associated with this invariant mutation is wider than previously recognized., (© 2014 Wiley Periodicals, Inc.)

Published
2014
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