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Items: 1 to 20 of 22

1.
BRAF基因突变所致心-面-皮肤综合征1例并文献复习
陈 柏谕, 陈 施梦, 熊 娟, 尹 飞
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Apr 28; 46(4): 432–437. Chinese. doi: 10.11817/j.issn.1672-7347.2021.190756
PMCID:
PMC10930301
AbstractArticlePDF–1011K
2.
Status epilepticus in BRAF‐related cardio‐facio‐cutaneous syndrome: Focus on neuroimaging clues to physiopathology
Elisa Musto, Maria Luigia Gambardella, Marco Perulli, Michela Quintiliani, Chiara Veredice, Tommaso Verdolotti, Giovanna Berté, Chiara Leoni, Roberta Onesimo, Silvia Maria Pulitanò, Marco Tartaglia, Giuseppe Zampino, Ilaria Contaldo, Domenica Immacolata Battaglia
Epilepsia Open. 2024 Feb; 9(1): 258–267. Published online 2023 Dec 20. doi: 10.1002/epi4.12864
PMCID:
PMC10839340
AbstractArticlePDF–4.3M
3.
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications
Giovanna Scorrano, Emanuele David, Elisa Calì, Roberto Chimenz, Saverio La Bella, Armando Di Ludovico, Gabriella Di Rosa, Eloisa Gitto, Kshitij Mankad, Rosaria Nardello, Giuseppe Donato Mangano, Chiara Leoni, Giorgia Ceravolo
Genes (Basel) 2023 Dec; 14(12): 2111. Published online 2023 Nov 22. doi: 10.3390/genes14122111
PMCID:
PMC10742720
AbstractArticlePDF–3.6M
4.
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients
Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-en Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wang
Orphanet J Rare Dis. 2023; 18: 284. Published online 2023 Sep 11. doi: 10.1186/s13023-023-02878-0
PMCID:
PMC10496309
AbstractArticlePDF–1.7M
5.
New prospectives on treatment opportunities in RASopathies
Bruce D. Gelb, Marielle E. Yohe, Cordula Wolf, Gregor Andelfinger
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2023 Dec 19.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2022 Dec; 190(4): 541–560. Published online 2022 Dec 19. doi: 10.1002/ajmg.c.32024
PMCID:
PMC10150944
AbstractArticlePDF–1.5M
6.
Obstetrical and neonatal outcomes of cardio-facio-cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation
Angie C. Jelin, Amanda Mahle, Susan H. Tran, Teresa N. Sparks, Katherine A. Rauen
Am J Med Genet A. Author manuscript; available in PMC 2024 Feb 1.
Published in final edited form as: Am J Med Genet A. 2023 Feb; 191(2): 323–331. Published online 2022 Oct 29. doi: 10.1002/ajmg.a.63020
PMCID:
PMC9839479
AbstractArticlePDF–241K
7.
Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype
Daniel L. Kenney‐Jung, Dante J. Rogers, Samuel J. Kroening, Abigail L. Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts, Martin Zenker, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Marco Tartaglia, Domenica I. Battaglia, Elizabeth I. Pierpont
Am J Med Genet C Semin Med Genet. 2022 Dec; 190(4): 501–509. Published online 2022 Nov 29. doi: 10.1002/ajmg.c.32022
PMCID:
PMC9825647
AbstractArticlePDF–1.5M
8.
Advancing RAS/RASopathy Therapies (ART): An NCI-sponsored Intramural and Extramural Collaboration for the study of RASopathies
Andrea M. Gross, Megan Frone, Karen W. Gripp, Bruce D. Gelb, Lisa Schoyer, Lisa Schill, Beth Stronach, Leslie G. Biesecker, Dominic Esposito, Edjay Ralph Hernandez, Eric Legius, Mignon L. Loh, Staci Martin, Deborah K. Morrison, Katherine A. Rauen, Pamela L. Wolters, Dina Zand, Frank McCormick, Sharon A. Savage, Douglas R. Stewart, Brigitte C. Widemann, Marielle E. Yohe
Am J Med Genet A. Author manuscript; available in PMC 2020 Aug 30.
Published in final edited form as: Am J Med Genet A. 2020 Apr; 182(4): 866–876. Published online 2020 Jan 8. doi: 10.1002/ajmg.a.61485
PMCID:
PMC7456498
AbstractArticlePDF–215K
9.
RASopathies are associated with a distinct personality profile
Varoona Bizaoui, Jessica Gage, Rita Brar, Katherine A Rauen, Lauren A Weiss
Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2019 Jun 1.
Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2018 Jun; 177(4): 434–446. Published online 2018 Apr 16. doi: 10.1002/ajmg.b.32632
PMCID:
PMC6039190
AbstractArticlePDF–605K
10.
Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome
Rifdat Aoidi, Nicolas Houde, Kim Landry-Truchon, Michael Holter, Kevin Jacquet, Louis Charron, Suguna Rani Krishnaswami, Benjamin D. Yu, Katherine A. Rauen, Nicolas Bisson, Jason Newbern, Jean Charron
Dis Model Mech. 2018 Mar 1; 11(3): dmm031278. doi: 10.1242/dmm.031278
PMCID:
PMC5897723
AbstractArticle
11.
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics
Maria Nicla Loviglio, Christine R. Beck, Janson J. White, Marion Leleu, Tamar Harel, Nicolas Guex, Anne Niknejad, Weimin Bi, Edward S. Chen, Isaac Crespo, Jiong Yan, Wu-Lin Charng, Shen Gu, Ping Fang, Zeynep Coban-Akdemir, Chad A. Shaw, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Jacques Rougemont, Ioannis Xenarios, James R. Lupski, Alexandre Reymond
Genome Med. 2016; 8: 105. Published online 2016 Nov 1. doi: 10.1186/s13073-016-0359-z
PMCID:
PMC5088687
AbstractArticlePDF–2.2M
12.
Deletion of MAP2K2/MEK2: A novel mechanism for a RASopathy?
Małgorzata J.M. Nowaczyk, Brandi A. Thompson, Susan Zeesman, Ute Moog, Pedro A. Sanchez-Lara, Pilar L. Magoulas, Rena E. Falk, Julie Hoover Fong, Denise A.S. Batista, Shivarajan M. Amudhavalli, Sue M. White, Gail E. Graham, Katherine A. Rauen
Clin Genet. Author manuscript; available in PMC 2015 Jun 25.
Published in final edited form as: Clin Genet. 2014 Feb; 85(2): 138–146. Published online 2013 Apr 2. doi: 10.1111/cge.12116
PMCID:
PMC4480871
AbstractArticlePDF–485K
13.
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
C P Kratz, L Franke, H Peters, N Kohlschmidt, B Kazmierczak, U Finckh, A Bier, B Eichhorn, C Blank, C Kraus, J Kohlhase, S Pauli, G Wildhardt, K Kutsche, B Auber, A Christmann, N Bachmann, D Mitter, F W Cremer, K Mayer, C Daumer-Haas, C Nevinny-Stickel-Hinzpeter, F Oeffner, G Schlüter, M Gencik, B Überlacker, C Lissewski, I Schanze, M H Greene, C Spix, M Zenker
Br J Cancer. 2015 Apr 14; 112(8): 1392–1397. Published online 2015 Mar 5. doi: 10.1038/bjc.2015.75
PMCID:
PMC4402457
AbstractArticlePDF–142K
14.
Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Mary Ella M. Pierpont, Pilar L. Magoulas, Saleh Adi, Maria Ines Kavamura, Giovanni Neri, Jacqueline Noonan, Elizabeth I. Pierpont, Kent Reinker, Amy E. Roberts, Suma Shankar, Joseph Sullivan, Melinda Wolford, Brenda Conger, Molly Santa Cruz, Katherine A. Rauen
Pediatrics. 2014 Oct; 134(4): e1149–e1162. doi: 10.1542/peds.2013-3189
PMCID:
PMC4179092
AbstractArticlePDF–948K
15.
Craniofacial and Dental Development in Cardio-facio-cutaneous Syndrome: The Importance of Ras Signaling Homeostasis
Alice F. Goodwin, Snehlata Oberoi, Maya Landan, Cyril Charles, Jessica Groth, Anna Martinez, Cecilia Fairley, Lauren A. Weiss, William E. Tidyman, Ophir D. Klein, Katherine A. Rauen
Clin Genet. Author manuscript; available in PMC 2014 Jul 30.
Published in final edited form as: Clin Genet. 2013 Jun; 83(6): 539–544. Published online 2012 Sep 27. doi: 10.1111/cge.12005
PMCID:
PMC4115672
AbstractArticlePDF–260K
16.
Dermatologic Findings in 61 Mutation-Positive Individuals with Cardio-facio-cutaneous Syndrome
D.H. Siegel, J. McKenzie, I.J. Frieden, K.A. Rauen
Br J Dermatol. Author manuscript; available in PMC 2014 Jun 19.
Published in final edited form as: Br J Dermatol. 2011 Mar; 164(3): 521–529. Published online 2011 Jan 28. doi: 10.1111/j.1365-2133.2010.10122.x
PMCID:
PMC4063552
AbstractArticlePDF–983K
17.
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
Francesca Romana Lepri, Rossana Scavelli, Maria Cristina Digilio, Maria Gnazzo, Simona Grotta, Maria Lisa Dentici, Elisa Pisaneschi, Pietro Sirleto, Rossella Capolino, Anwar Baban, Serena Russo, Tiziana Franchin, Adriano Angioni, Bruno Dallapiccola
BMC Med Genet. 2014; 15: 14. Published online 2014 Jan 23. doi: 10.1186/1471-2350-15-14
PMCID:
PMC3915031
AbstractArticlePDF–2.0M
18.
Human CoQ10 deficiencies
CM Quinzii, LC Lopez, A Naini, S DiMauro, M Hirano
Biofactors. Author manuscript; available in PMC 2013 Apr 15.
Published in final edited form as: Biofactors. 2008; 32(0): 113–118. doi: 10.1002/biof.5520320113
PMCID:
PMC3625975
AbstractArticlePDF–629K
19.
MEK genomics in development and disease
Jennifer L. Bromberg-White, Nicholas J. Andersen, Nicholas S. Duesbery
Brief Funct Genomics. 2012 Jul; 11(4): 300–310. Published online 2012 Jun 28. doi: 10.1093/bfgp/els022
PMCID:
PMC3398258
AbstractArticlePDF–400K
20.
Cancer in Noonan, Costello, Cardiofaciocutaneous and LEOPARD Syndromes
Christian P. Kratz, Suthee Rapisuwon, Helen Reed, Henrik Hasle, Philip S. Rosenberg
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2012 May 15.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2011 May 15; 157(2): 83–89. Published online 2011 Apr 15. doi: 10.1002/ajmg.c.30300
PMCID:
PMC3086183
AbstractArticlePDF–228K

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