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Year Number of Results
2011 2
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2014 12
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Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes.
Patnaik MM, Lasho TL. Patnaik MM, et al. Hematology Am Soc Hematol Educ Program. 2020 Dec 4;2020(1):450-459. doi: 10.1182/hematology.2020000130. Hematology Am Soc Hematol Educ Program. 2020. PMID: 33275756 Free PMC article. Review.
MDS/MPN-RS-T demonstrates features of SF3B1-mutant MDS with ring sideroblasts (MDS-RS), with the development of thrombocytosis secondary to the acquisition of signaling mutations, most commonly JAK2V617F. JMML, the only pediatric entity, is a bona fide RASopathy, with germ …
MDS/MPN-RS-T demonstrates features of SF3B1-mutant MDS with ring sideroblasts (MDS-RS), with the development of thrombocytosis secondary to …
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.
Lioncino M, Monda E, Verrillo F, Moscarella E, Calcagni G, Drago F, Marino B, Digilio MC, Putotto C, Calabrò P, Russo MG, Roberts AE, Gelb BD, Tartaglia M, Limongelli G. Lioncino M, et al. Heart Fail Clin. 2022 Jan;18(1):19-29. doi: 10.1016/j.hfc.2021.07.004. Epub 2021 Oct 25. Heart Fail Clin. 2022. PMID: 34776080 Free PMC article. Review.
RASopathies are multisystemic disorders caused by germline mutations in genes linked to the RAS/mitogen-activated protein kinase pathway. Diagnosis of RASopathy can be triggered by clinical clues ("red flags") which may direct the clinician toward a specific gene test. ...
RASopathies are multisystemic disorders caused by germline mutations in genes linked to the RAS/mitogen-activated protein kinase pathway. Di …
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway J, Heliö K, Saarinen I, Tallila J, Seppälä EH, Tuupanen S, Turpeinen H, Kangas-Kontio T, Schleit J, Tommiska J, Kytölä V, Valori M, Muona M, Sistonen J, Gentile M, Salmenperä P, Myllykangas S, Paananen J, Alastalo TP, Heliö T, Koskenvuo J. Hathaway J, et al. BMC Cardiovasc Disord. 2021 Mar 5;21(1):126. doi: 10.1186/s12872-021-01927-5. BMC Cardiovasc Disord. 2021. PMID: 33673806 Free PMC article.
The majority of diagnostic variants involved genes encoding the sarcomere (85.0%) followed by 4.3% of diagnostic variants identified in the RASopathy genes. Two percent of diagnostic variants were in genes associated with a cardiomyopathy other than HCM or an inherited arr …
The majority of diagnostic variants involved genes encoding the sarcomere (85.0%) followed by 4.3% of diagnostic variants identified in the …
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. ...Characterization and understanding of genotype-phenotype …
Because of the common underlying RAS/MAPK pathway dysregulation, RASopathy syndromes usually present with a typical spectrum of overl …
RASopathy Gene Mutations in Melanoma.
Halaban R, Krauthammer M. Halaban R, et al. J Invest Dermatol. 2016 Sep;136(9):1755-1759. doi: 10.1016/j.jid.2016.05.095. Epub 2016 May 25. J Invest Dermatol. 2016. PMID: 27236105 Free PMC article. Review.
We highlight shared amino acid substitutions between this set of RASopathy mutations and those observed in large-scale melanoma sequencing data, uncovering a significant overlap. We review the evidence that these mutations activate the RAS/mitogen-activated protein kinase …
We highlight shared amino acid substitutions between this set of RASopathy mutations and those observed in large-scale melanoma seque …
Investigation into the genetics of fetal congenital lymphatic anomalies.
Rogerson D, Alkelai A, Giordano J, Pantrangi M, Hsiao MC, Nhan-Chang CL, Motelow JE, Aggarwal V, Goldstein D, Wapner R, Shawber CJ. Rogerson D, et al. Prenat Diagn. 2023 Jun;43(6):703-716. doi: 10.1002/pd.6345. Epub 2023 Apr 3. Prenat Diagn. 2023. PMID: 36959127 Free PMC article.
Pathogenic and likely pathogenic variants were identified in 7% (5/71) of cases, including variants in RASopathy genes, RASA1, SOS1, PTPN11, and a novel PIEZO1 variant. Variants of uncertain significance (VOUS) were identified in 45% (32/71) of cases. In CSFEs, VOUS were f …
Pathogenic and likely pathogenic variants were identified in 7% (5/71) of cases, including variants in RASopathy genes, RASA1, SOS1, …
177 results