Works matching IS 15524868 AND DT 2022 AND VI 190 AND IP 4

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

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

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

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