Search Results | Scholarly Articles, Journals, and E-Books

Results: 17

Dermatological manifestations, management, and care in RASopathies.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 452, doi. 10.1002/ajmg.c.32027
By:
- Kavamura, Maria Ines;
- Leoni, Chiara;
- Neri, Giovanni
Publication type:
Article
Molecular advances, clinical management, and treatment opportunities in RASopathies.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 411, doi. 10.1002/ajmg.c.32026
By:
- Leoni, Chiara;
- Neri, Giovanni
Publication type:
Article
Neuropsychological features in RASopathies: A pilot study on parent training program involving families of children with Noonan syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 510, doi. 10.1002/ajmg.c.32025
By:
- Montanaro, Federica Alice Maria;
- Alfieri, Paolo;
- Caciolo, Cristina;
- Cumbo, Francesca;
- Piga, Simone;
- Tartaglia, Marco;
- Licchelli, Serena;
- Digilio, Maria Cristina;
- Vicari, Stefano
Publication type:
Article
New prospectives on treatment opportunities in RASopathies.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 541, doi. 10.1002/ajmg.c.32024
By:
- Gelb, Bruce D.;
- Yohe, Marielle E.;
- Wolf, Cordula;
- Andelfinger, Gregor
Publication type:
Article
Central nervous system involvement in individuals with RASopathies.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 494, doi. 10.1002/ajmg.c.32023
By:
- Weaver, K. Nicole;
- Gripp, Karen W.
Publication type:
Article
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 501, doi. 10.1002/ajmg.c.32022
By:
- Kenney‐Jung, Daniel L.;
- Rogers, Dante J.;
- Kroening, Samuel J.;
- Zatkalik, Abigail L.;
- Whitmarsh, Ashley E.;
- Roberts, Amy E.;
- Zenker, Martin;
- Gambardella, Maria Luigia;
- Contaldo, Ilaria;
- Leoni, Chiara;
- Onesimo, Roberta;
- Zampino, Giuseppe;
- Tartaglia, Marco;
- Battaglia, Domenica I.;
- Pierpont, Elizabeth I.
Publication type:
Article
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 520, doi. 10.1002/ajmg.c.32021
By:
- Carli, Diana;
- Resta, Nicoletta;
- Ferrero, Giovanni Battista;
- Ruggieri, Martino;
- Mussa, Alessandro
Publication type:
Article
Bone health in RASopathies.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 459, doi. 10.1002/ajmg.c.32020
By:
- Stevenson, David A.;
- Viscogliosi, Germana;
- Leoni, Chiara
Publication type:
Article
Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 478, doi. 10.1002/ajmg.c.32019
By:
- Onesimo, Roberta;
- Giorgio, Valentina;
- Viscogliosi, Germana;
- Sforza, Elisabetta;
- Kuczynska, Eliza;
- Margiotta, Gaia;
- Iademarco, Mariella;
- Proli, Francesco;
- Rigante, Donato;
- Zampino, Giuseppe;
- Leoni, Chiara
Publication type:
Article
Cancer incidence and surveillance strategies in individuals with RASopathies.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 530, doi. 10.1002/ajmg.c.32018
By:
- Ney, Gina;
- Gross, Andrea;
- Livinski, Alicia;
- Kratz, Christian P.;
- Stewart, Douglas R.
Publication type:
Article
Clinical overview on RASopathies.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 414, doi. 10.1002/ajmg.c.32015
By:
- Zenker, Martin
Publication type:
Article
The heart in RASopathies.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 440, doi. 10.1002/ajmg.c.32014
By:
- Delogu, Angelica Bibiana;
- Limongelli, Giuseppe;
- Versacci, Paolo;
- Adorisio, Rachele;
- Kaski, Juan Pablo;
- Blandino, Rita;
- Maiolo, Stella;
- Monda, Emanuele;
- Putotto, Carolina;
- De Rosa, Gabriella;
- Chatfield, Kathryn C.;
- Gelb, Bruce D.;
- Calcagni, Giulio
Publication type:
Article
Endocrinological manifestations in RASopathies.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 471, doi. 10.1002/ajmg.c.32013
By:
- Tamburrino, Federica;
- Scarano, Emanuela;
- Schiavariello, Concetta;
- Perri, Annamaria;
- Pession, Andrea;
- Mazzanti, Laura
Publication type:
Article
The molecular genetics of RASopathies: An update on novel disease genes and new disorders.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 425, doi. 10.1002/ajmg.c.32012
By:
- Tartaglia, Marco;
- Aoki, Yoko;
- Gelb, Bruce D.
Publication type:
Article
Cover Image, Volume 190, Number 1, March 2022.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. i, doi. 10.1002/ajmg.c.31918
Publication type:
Article
Publication schedule for 2022.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 409, doi. 10.1002/ajmg.c.31928
Publication type:
Article
Table of Contents, Volume 190, Number 4, December 2022.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 407, doi. 10.1002/ajmg.c.31927
Publication type:
Article