"Costello Syndrome/diagnosis"[MAJR] - Search Results

Year	Number of Results
2010	1
2011	2
2012	3
2013	1
2014	3
2015	3
2016	4
2017	3
2018	2
2019	1
2020	1
2021	2
2022	5
2023	1
2024	0

1

Early postnatal diagnosis of Costello syndrome.

Kargl S, Meissl M, Pumberger W. Kargl S, et al. Klin Padiatr. 2015 Jan;227(1):45-7. doi: 10.1055/s-0034-1377028. Epub 2014 Jul 25. Klin Padiatr. 2015. PMID: 25062109

2

Dermatological manifestations, management, and care in RASopathies.

Kavamura MI, Leoni C, Neri G. Kavamura MI, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):452-458. doi: 10.1002/ajmg.c.32027. Epub 2022 Dec 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 36541891 Review.

3

Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients.

Ríos-González BE, Rodríguez-Ortiz JF, Castro-Martínez AG, Magaña-Torres MT, Barros-Núñez P. Ríos-González BE, et al. Clin Dysmorphol. 2022 Apr 1;31(2):55-58. doi: 10.1097/MCD.0000000000000405. Clin Dysmorphol. 2022. PMID: 34845155

4

Craniosynostosis is a feature of Costello syndrome.

Weaver KN, Care M, Wakefield E, Zarate YA, Skoch J, Gripp KW, Prada CE. Weaver KN, et al. Am J Med Genet A. 2022 Apr;188(4):1280-1286. doi: 10.1002/ajmg.a.62620. Epub 2021 Dec 28. Am J Med Genet A. 2022. PMID: 34964243

5

Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development.

Shankar SP, Fallurin R, Watson T, Shankar PR, Young TL, Orel-Bixler D, Rauen KA. Shankar SP, et al. Ophthalmic Genet. 2022 Feb;43(1):48-57. doi: 10.1080/13816810.2021.1978103. Epub 2021 Oct 6. Ophthalmic Genet. 2022. PMID: 34612139

6

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

Myers A, Bernstein JA, Brennan ML, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi AK, Seaver LH, Hintz SR, Hudgins L. Myers A, et al. Am J Med Genet A. 2014 Nov;164A(11):2814-21. doi: 10.1002/ajmg.a.36737. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25250515 Review.

7

Age and ASD symptoms in Costello syndrome.

Young O, Perati S, Weiss LA, Rauen KA. Young O, et al. Am J Med Genet A. 2018 Apr;176(4):1027-1028. doi: 10.1002/ajmg.a.38641. Am J Med Genet A. 2018. PMID: 29575620 Free PMC article. No abstract available.

8

Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making.

Leoni C, Paradiso FV, Foschi N, Tedesco M, Pierconti F, Silvaroli S, Diego MD, Birritella L, Pantaleoni F, Rendeli C, Onesimo R, Viscogliosi G, Bassi P, Nanni L, Genuardi M, Tartaglia M, Zampino G. Leoni C, et al. Clin Genet. 2022 Apr;101(4):454-458. doi: 10.1111/cge.14111. Epub 2022 Feb 17. Clin Genet. 2022. PMID: 35038173

9

Prenatal genetic diagnosis of Costello syndrome in a male fetus with recurrent HRAS mutation p.Gly12Ser.

Hague J, Hackett G, Acerini C, Park SM. Hague J, et al. Prenat Diagn. 2017 Apr;37(4):409-411. doi: 10.1002/pd.5009. Epub 2017 Feb 23. Prenat Diagn. 2017. PMID: 28141901 No abstract available.

10

Fatal leukodystrophy in Costello syndrome: a case report.

Failoc-Rojas VE, Ugaz PAQ, León DAL, Zeña-Ñañez S. Failoc-Rojas VE, et al. BMC Pediatr. 2023 Jul 24;23(1):374. doi: 10.1186/s12887-023-04166-z. BMC Pediatr. 2023. PMID: 37488489 Free PMC article.

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