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534 results

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Page 1
LEOPARD Syndrome.
Lin Y, Xu X. Lin Y, et al. Int J Dermatol. 2024 Nov;63(11):1601-1602. doi: 10.1111/ijd.17219. Epub 2024 May 8. Int J Dermatol. 2024. PMID: 38716686 No abstract available.
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Orphanet J Rare Dis. 2008. PMID: 18505544 Free PMC article. Review.
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. ...Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping
LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and
[LEOPARD syndrome].
Gabrusenko SA, Saidova MA, Stukalova OV, Dzaurova KM, Meladze NV. Gabrusenko SA, et al. Kardiologiia. 2020 Mar 18;60(3):137-141. doi: 10.18087/cardio.2020.3.n944. Kardiologiia. 2020. PMID: 32375626 Russian.
LEOPARD syndrome with multiple lentigines (cardiomyopathic lentiginosis) is a rare, genetically predetermined disease with autosomal dominant inheritance. ...We presented a rare clinical case of detecting LEOPARD syndrome with multiple lentigines in a
LEOPARD syndrome with multiple lentigines (cardiomyopathic lentiginosis) is a rare, genetically predetermined disease with aut
LEOPARD syndrome.
Massoure PL, Latremouille C, Lamblin G, Leca F. Massoure PL, et al. Cardiovasc J Afr. 2012 Jul 12;23(6):e19-20. doi: 10.5830/CVJA-2012-011. Cardiovasc J Afr. 2012. PMID: 22832481
LEOPARD syndrome (LS) is a rare hereditary disorder, characterised mainly by skin, facial and cardiac abnormalities. ...
LEOPARD syndrome (LS) is a rare hereditary disorder, characterised mainly by skin, facial and cardiac abnormalities. ...
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.
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ecto …
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced gro …
LEOPARD Syndrome.
Ghosh SK, Majumdar B, Rudra O, Chakraborty S. Ghosh SK, et al. Dermatol Online J. 2015 Oct 16;21(10):13030/qt2d55s0t1. Dermatol Online J. 2015. PMID: 26632807
LEOPARD syndrome (LS) is an autosomal dominantly inherited or sporadic disorder of variable penetrance and expressivity. ...We present herein a patient with LEOPARD syndrome and distinctive features. It was noteworthy that our patient presented with th
LEOPARD syndrome (LS) is an autosomal dominantly inherited or sporadic disorder of variable penetrance and expressivity. ...We
[Noonan syndrome: genetic and clinical update and treatment options].
Carcavilla A, Suárez-Ortega L, Rodríguez Sánchez A, Gonzalez-Casado I, Ramón-Krauel M, Labarta JI, Quinteiro Gonzalez S, Riaño Galán I, Ezquieta Zubicaray B, López-Siguero JP. Carcavilla A, et al. An Pediatr (Engl Ed). 2020 Jul;93(1):61.e1-61.e14. doi: 10.1016/j.anpedi.2020.04.008. Epub 2020 May 31. An Pediatr (Engl Ed). 2020. PMID: 32493603 Free article. Spanish.
Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD sy
Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distincti …
Clinical overview on RASopathies.
Zenker M. Zenker M. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):414-424. doi: 10.1002/ajmg.c.32015. Epub 2022 Nov 25. Am J Med Genet C Semin Med Genet. 2022. PMID: 36428239 Review.
RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS-MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway. Noonan syndrome and the less f …
RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulato …
Leopard syndrome: the potential cardiac defect underlying skin phenotypes.
Yue X, Zhao X, Dai Y, Yu L. Yue X, et al. Hereditas. 2021 Sep 6;158(1):34. doi: 10.1186/s41065-021-00199-5. Hereditas. 2021. PMID: 34488904 Free PMC article.
Phenotype overlap complicates clinical discrimination within RASopathies, making the diagnosis of LEOPARD more confusing and challenging. Besides, LEOPARD patients do not usually present with all these typical clinical features, increasing the possibility of underdi …
Phenotype overlap complicates clinical discrimination within RASopathies, making the diagnosis of LEOPARD more confusing and challeng …
534 results