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Items: 1 to 20 of 137

1.
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
2.
A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant
Qiong Tang, Dai Gong, Xiao-Min Ye, Jun-Ru Xu, Yi-Can Yang, Li-Juan Yan, Li Zou, Xiang-Lan Wen
Pharmgenomics Pers Med. 2023; 16: 817–823. Published online 2023 Sep 8. doi: 10.2147/PGPM.S411964
PMCID:
PMC10497045
AbstractArticlePDF–1.5M
3.
The “FEEDS (FEeding Eating Deglutition Skills)” over Time Study in Cardiofaciocutaneous Syndrome
Roberta Onesimo, Elisabetta Sforza, Valentina Giorgio, Germana Viscogliosi, Eliza Maria Kuczynska, Gaia Margiotta, Lucrezia Perri, Domenico Limongelli, Francesco Proli, Cristina De Rose, Donato Rigante, Antonella Cerchiari, Marco Tartaglia, Chiara Leoni, Giuseppe Zampino
Genes (Basel) 2023 Jul; 14(7): 1338. Published online 2023 Jun 25. doi: 10.3390/genes14071338
PMCID:
PMC10379052
AbstractArticlePDF–296K
4.
An Unusual Presentation of Cardiofaciocutaneous Syndrome Diagnosed Through Whole Genome Sequencing: A Case Report
Rouzy Alhalak, Mohammed H Al-Haideri, Arif Khan
Cureus. 2023 Feb; 15(2): e35021. Published online 2023 Feb 15. doi: 10.7759/cureus.35021
PMCID:
PMC10022705
AbstractArticlePDF–310K
5.
Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia
Elyn Y.-L. Tzen, Jiin Yin Lim, Sue Mei Cheah, Jonathan T.L. Choo, Sylvia Kam, Zhi Min Ng, Biju Thomas, Saumya Jamuar, Ai Ling Koh, Ene-Choo Tan
Mol Syndromol. 2023 Feb; 14(1): 21–29. Published online 2022 Jul 21. doi: 10.1159/000525434
PMCID:
PMC9911993
AbstractArticlePDF–634K
6.
Analysis of the Oral Microbiome in a Patient with Cardiofaciocutaneous Syndrome and Severe Periodontal Disease: Impact of Systemic Antibiotic Therapy
Carolina Muñoz Navarro, María del Carmen Sánchez Beltrán, Carolina Arriagada Vargas, Pilar Batalla Vázquez, Márcio Diniz Freitas, Jacobo Limeres Posse, Pedro Diz Dios, Eliane García Mato
Antibiotics (Basel) 2022 Dec; 11(12): 1754. Published online 2022 Dec 4. doi: 10.3390/antibiotics11121754
PMCID:
PMC9774349
AbstractArticlePDF–2.4M
7.
Anesthesia management of pediatric dentistry patients with cardiofaciocutaneous syndrome: a case report
Gian Luigi Gonnella, Pietro Paolo Giuri, Bruno Antonio Zanfini, Matteo Biancone, Luciano Frassanito, Cristina Olivieri, Gaetano Draisci
Braz J Anesthesiol. 2021 Mar-Apr; 71(2): 178–180. Published online 2021 Feb 6. doi: 10.1016/j.bjane.2020.10.013
PMCID:
PMC9373373
AbstractArticlePDF–343K
8.
Cardiofaciocutaneous syndrome – a longitudinal study of a case over 33 years: case report and review of the literature
Maria Claudia Jurcă, Oana Alexandra Iuhas, Maria Puiu, Adela Chiriţă-Emandi, Nicoleta Ioana Andreescu, Codruţa Diana Petcheşi, Alexandru Daniel Jurcă, Ioan Magyar, Sânziana Iulia Jurcă, Kinga Kozma, Emilia Maria Severin, Marius Bembea
Rom J Morphol Embryol. 2021 Apr-Jun; 62(2): 563–568. Published online 2021 Dec 21. doi: 10.47162/RJME.62.2.23
PMCID:
PMC8848265
AbstractArticlePDF–743K
9.
Anesthetic Management of a Pediatric Patient With Cardiofaciocutaneous Syndrome
Yoshiki Shionoya, Maki Yamamoto, Katsuhisa Sunada, Kiminari Nakamura
Anesth Prog. 2020 Spring; 67(1): 45–47. doi: 10.2344/anpr-67-01-07
PMCID:
PMC7083123
AbstractArticlePDF–83K
10.
Cardiofaciocutaneous syndrome with rare structural variant in DOCK8 gene associated with neurodevelopmental disorders
Domenico Dell'Edera, Lucantonio Debellis, Angela Mitidieri, Annunziata Anna Epifania, Eustachio Cuscianna, Arianna Allegretti
Clin Case Rep. 2020 Mar; 8(3): 539–544. Published online 2020 Feb 14. doi: 10.1002/ccr3.2729
PMCID:
PMC7069886
AbstractArticlePDF–313K
11.
Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant
Aslihan Sanri, Hakan Gurkan, Selma Demir
Mol Syndromol. 2020 Jan; 10(6): 344–347. Published online 2019 Nov 26. doi: 10.1159/000504374
PMCID:
PMC6995951
AbstractArticlePDF–933K
12.
Endocrine abnormalities in cardiofaciocutaneous syndrome: a case of precocious puberty, hyperprolactinemia and diabetes insipidus
Stephanie Lenet, Constantin Polychronakos
BMJ Case Rep. 2019; 12(6): e229032. Published online 2019 Jun 18. doi: 10.1136/bcr-2018-229032
PMCID:
PMC6586202
AbstractArticlePDF–301K
13.
A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway
Ivan K. Popov, Susan M. Hiatt, Sandra Whalen, Boris Keren, Claudia Ruivenkamp, Arie van Haeringen, Mei-Jan Chen, Gregory M. Cooper, Bruce R. Korf, Chenbei Chang
Front Physiol. 2019; 10: 388. Published online 2019 Apr 8. doi: 10.3389/fphys.2019.00388
PMCID:
PMC6465419
AbstractArticlePDF–10M
14.
Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant
Fernando Rodríguez, Carla Vallejos, Víctor M. Bolanos-Garcia, Diana Ponce, Nancy Unanue, Francisco Garay, Fernando Cassorla, Mariana Aracena
J Pediatr Genet. 2018 Dec; 7(4): 158–163. Published online 2018 May 16. doi: 10.1055/s-0038-1653977
PMCID:
PMC6234039
AbstractArticlePDF–206K
15.
Cardiofaciocutaneous Syndrome: Case Report of a Rare Disorder
Soutrik Seth, Tanmoy Biswas, Biswajit Biswas, Atanu Roy, Asok Kumar Datta
J Clin Diagn Res. 2016 Nov; 10(11): SD01–SD02. Published online 2016 Nov 1. doi: 10.7860/JCDR/2016/21586.8811
PMCID:
PMC5198416
AbstractArticlePDF–345K
16.
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome
Sarah Joyce, Kristiana Gordon, Glen Brice, Pia Ostergaard, Rani Nagaraja, John Short, Sandra Moore, Peter Mortimer, Sahar Mansour
Eur J Hum Genet. 2016 May; 24(5): 690–696. Published online 2015 Aug 5. doi: 10.1038/ejhg.2015.175
PMCID:
PMC4930084
AbstractArticlePDF–1.0M
17.
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
18.
Cardiofaciocutaneous Syndrome: A Rare Entity
S Pavithra, H Mallya, G S Pai
Indian J Dermatol. 2012 Jul-Aug; 57(4): 299–301. doi: 10.4103/0019-5154.97677
PMCID:
PMC3401850
AbstractArticle
19.
Effects of Germline Mutations in the Ras/MAPK Signaling Pathway on Adaptive Behavior: Cardiofaciocutaneous Syndrome and Noonan Syndrome
Elizabeth I. Pierpont, Mary Ella Pierpont, Nancy J. Mendelsohn, Amy E. Roberts, Erica Tworog-Dube, Katherine A. Rauen, Mark S. Seidenberg
Am J Med Genet A. Author manuscript; available in PMC 2011 May 3.
Published in final edited form as: Am J Med Genet A. 2010 Mar; 152A(3): 591–600. doi: 10.1002/ajmg.a.33268
PMCID:
PMC3085983
AbstractArticlePDF–585K
20.
The cardiofaciocutaneous syndrome
A Roberts, J Allanson, S K Jadico, M I Kavamura, J Noonan, J M Opitz, T Young, G Neri
J Med Genet. 2006 Nov; 43(11): 833–842. Published online 2006 Jul 6. doi: 10.1136/jmg.2006.042796
PMCID:
PMC2563180
AbstractArticlePDF–1.3M

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