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Page 1
Noonan syndrome.
Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Roberts AE, et al. Lancet. 2013 Jan 26;381(9863):333-42. doi: 10.1016/S0140-6736(12)61023-X. Epub 2013 Jan 10. Lancet. 2013. PMID: 23312968 Free PMC article. Review.
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that c …
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning …
Noonan syndrome: clinical features, diagnosis, and management guidelines.
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Romano AA, et al. Pediatrics. 2010 Oct;126(4):746-59. doi: 10.1542/peds.2009-3207. Epub 2010 Sep 27. Pediatrics. 2010. PMID: 20876176 Review.
Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. ...Because of the variability in presentation and th …
Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial featu …
Noonan syndrome: improving recognition and diagnosis.
Zenker M, Edouard T, Blair JC, Cappa M. Zenker M, et al. Arch Dis Child. 2022 Dec;107(12):1073-1078. doi: 10.1136/archdischild-2021-322858. Epub 2022 Mar 4. Arch Dis Child. 2022. PMID: 35246453 Free PMC article. Review.
Noonan syndrome (NS) is a mostly dominantly inherited disorder affecting 1:1000 to 1:2500 live births. ...
Noonan syndrome (NS) is a mostly dominantly inherited disorder affecting 1:1000 to 1:2500 live births. ...
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.
Linglart L, Gelb BD. Linglart L, et al. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):73-80. doi: 10.1002/ajmg.c.31765. Epub 2020 Feb 5. Am J Med Genet C Semin Med Genet. 2020. PMID: 32022400 Free PMC article. Review.
Molecular diagnosis with gene resequencing panels is now widely available, but phenotype variability and in some cases, subtlety, continues to make identification of Noonan syndrome difficult. Until genetic testing becomes universal for patients with congenital hear …
Molecular diagnosis with gene resequencing panels is now widely available, but phenotype variability and in some cases, subtlety, continues …
Noonan syndrome.
Turner AM. Turner AM. J Paediatr Child Health. 2014 Oct;50(10):E14-20. doi: 10.1111/j.1440-1754.2010.01970.x. Epub 2011 Jul 19. J Paediatr Child Health. 2014. PMID: 21771153 Review.
Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. ...
Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. ...
[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 di …
Noonan syndrome.
Allanson JE. Allanson JE. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):274-9. doi: 10.1002/ajmg.c.30138. Am J Med Genet C Semin Med Genet. 2007. PMID: 17639592 Review.
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. ...
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. ...
Noonan syndrome.
Allanson JE. Allanson JE. J Med Genet. 1987 Jan;24(1):9-13. doi: 10.1136/jmg.24.1.9. J Med Genet. 1987. PMID: 3543368 Free PMC article. Review. No abstract available.
Noonan syndrome: an update on growth and development.
Yart A, Edouard T. Yart A, et al. Curr Opin Endocrinol Diabetes Obes. 2018 Feb;25(1):67-73. doi: 10.1097/MED.0000000000000380. Curr Opin Endocrinol Diabetes Obes. 2018. PMID: 29120925 Review.
RECENT FINDINGS: The discovery of the molecular genetic causes of Noonan syndrome and Noonan-syndrome-related disorders has permitted us to better understand the mechanisms underlying the different symptoms of these diseases and to establish genotype-p …
RECENT FINDINGS: The discovery of the molecular genetic causes of Noonan syndrome and Noonan-syndrome-related di …
Noonan syndrome.
van der Burgt I. van der Burgt I. Orphanet J Rare Dis. 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. Orphanet J Rare Dis. 2007. PMID: 17222357 Free PMC article. Review.
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. ...Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency an …
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. ...Other as …
3,213 results

Searches related to "noonan syndrome"