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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1968 1
1972 1
1977 1
1993 1
1995 1
1997 1
1998 1
1999 1
2000 1
2004 3
2007 2
2009 2
2010 3
2011 9
2012 3
2013 5
2014 5
2015 7
2016 7
2017 8
2018 4
2019 4
2020 5
2021 4
2022 7
2023 4
2024 0

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79 results

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Page 1
Noonan syndrome and clinically related disorders.
Tartaglia M, Gelb BD, Zenker M. Tartaglia M, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396583 Free PMC article. Review.
Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. ...
Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hype …
Infantile hemangioma. Part 1: Epidemiology, pathogenesis, clinical presentation and assessment.
Rodríguez Bandera AI, Sebaratnam DF, Wargon O, Wong LF. Rodríguez Bandera AI, et al. J Am Acad Dermatol. 2021 Dec;85(6):1379-1392. doi: 10.1016/j.jaad.2021.08.019. Epub 2021 Aug 19. J Am Acad Dermatol. 2021. PMID: 34419524 Review.
Large facial IHs warrant investigation for posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects or aortic coarctation and eye anomalies (PHACE) syndrome. Lumbar IHs warrant investigation for lower body IH and other cutaneous defects, urogen …
Large facial IHs warrant investigation for posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects or aortic c …
RASopathies.
Jafry M, Sidbury R. Jafry M, et al. Clin Dermatol. 2020 Jul-Aug;38(4):455-461. doi: 10.1016/j.clindermatol.2020.03.010. Epub 2020 Apr 1. Clin Dermatol. 2020. PMID: 32972603 Review.
Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168220 Review. No abstract available.
The heart in RASopathies.
Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G. Delogu AB, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):440-451. doi: 10.1002/ajmg.c.32014. Epub 2022 Nov 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 36408797 Review.
Because of the common underlying RAS/MAPK pathway dysregulation, RASopathy syndromes usually present with a typical spectrum of overlapping cardiovascular anomalies, although less common cardiac defects can occur. The identification of the causative genetic variants has en …
Because of the common underlying RAS/MAPK pathway dysregulation, RASopathy syndromes usually present with a typical spectrum of overlapping …
PHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations.
Garzon MC, Epstein LG, Heyer GL, Frommelt PC, Orbach DB, Baylis AL, Blei F, Burrows PE, Chamlin SL, Chun RH, Hess CP, Joachim S, Johnson K, Kim W, Liang MG, Maheshwari M, McCoy GN, Metry DW, Monrad PA, Pope E, Powell J, Shwayder TA, Siegel DH, Tollefson MM, Vadivelu S, Lew SM, Frieden IJ, Drolet BA. Garzon MC, et al. J Pediatr. 2016 Nov;178:24-33.e2. doi: 10.1016/j.jpeds.2016.07.054. Epub 2016 Sep 19. J Pediatr. 2016. PMID: 27659028 Free PMC article. Review. No abstract available.
RASopathies: Dermatologists' viewpoints.
Palit A, Inamadar AC. Palit A, et al. Indian J Dermatol Venereol Leprol. 2022 May-Jun;88(4):452-463. doi: 10.25259/IJDVL_799_20. Indian J Dermatol Venereol Leprol. 2022. PMID: 35138057 Free article. Review.
Some other features in common are facial dysmorphism, skeletal abnormalities, congenital heart disease, neurocognitive abnormalities and risk of various solid-organ and haematological malignancies. ...
Some other features in common are facial dysmorphism, skeletal abnormalities, congenital heart disease, neurocognitive abnorma …
Infantile and congenital hemangiomas.
Olsen GM, Nackers A, Drolet BA. Olsen GM, et al. Semin Pediatr Surg. 2020 Oct;29(5):150969. doi: 10.1016/j.sempedsurg.2020.150969. Epub 2020 Sep 16. Semin Pediatr Surg. 2020. PMID: 33069287 Review.
Although the majority of IHs do not requirement treatment, oral propranolol is the first-line therapy for lesions that are at risk for life-threatening complications, functional impairment, ulceration, or permanent disfigurement. Rarely, IHs can be associated with structural anom …
Although the majority of IHs do not requirement treatment, oral propranolol is the first-line therapy for lesions that are at risk for life- …
Costello syndrome.
Philip N, Sigaudy S. Philip N, et al. J Med Genet. 1998 Mar;35(3):238-40. doi: 10.1136/jmg.35.3.238. J Med Genet. 1998. PMID: 9541110 Free PMC article. Review.
The peculiar course of the disease, the typical facies, and the ectodermal involvement with loose and hyperpigmented skin are characteristic enough to allow an early diagnosis. ...
The peculiar course of the disease, the typical facies, and the ectodermal involvement with loose and hyperpigmented skin are charact …
Neurodevelopmental Aspects of RASopathies.
Kim YE, Baek ST. Kim YE, et al. Mol Cells. 2019 Jun 30;42(6):441-447. doi: 10.14348/molcells.2019.0037. Mol Cells. 2019. PMID: 31250618 Free PMC article. Review.
Since RAS-MAPK pathway plays essential roles in proliferation, differentiation and migration involving developmental processes, individuals with RASopathies show abnormalities in various organ systems including central nervous system. The frequently seen neurological defects …
Since RAS-MAPK pathway plays essential roles in proliferation, differentiation and migration involving developmental processes, individuals …
79 results