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394 results

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Page 1
The RASopathies: from pathogenetics to therapeutics.
Hebron KE, Hernandez ER, Yohe ME. Hebron KE, et al. Dis Model Mech. 2022 Feb 1;15(2):dmm049107. doi: 10.1242/dmm.049107. Epub 2022 Feb 18. Dis Model Mech. 2022. PMID: 35178568 Free PMC article. Review.
The RASopathies are a group of disorders caused by a germline mutation in one of the genes encoding a component of the RAS/MAPK pathway. These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome …
The RASopathies are a group of disorders caused by a germline mutation in one of the genes encoding a component of the RAS/MAPK pathway. The …
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: 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. ...
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 …
Clinical Indications for Growth Hormone Therapy.
Danowitz M, Grimberg A. Danowitz M, et al. Adv Pediatr. 2022 Aug;69(1):203-217. doi: 10.1016/j.yapd.2022.03.005. Epub 2022 Jun 17. Adv Pediatr. 2022. PMID: 35985710 Free PMC article. Review.
In the United States, there are 8 Food and Drug Administration (FDA)-approved indications for pediatric GH therapy: GH deficiency, Prader-Willi Syndrome, small for gestational age (SGA) without catch-up growth, idiopathic short stature, Turner syndrome, SHOX gene ha …
In the United States, there are 8 Food and Drug Administration (FDA)-approved indications for pediatric GH therapy: GH deficiency, Prader-Wi …
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 …
RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulato …
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 skeleta …
Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally redu …
Neuromyelitis optica spectrum disorders.
Huda S, Whittam D, Bhojak M, Chamberlain J, Noonan C, Jacob A. Huda S, et al. Clin Med (Lond). 2019 Mar;19(2):169-176. doi: 10.7861/clinmedicine.19-2-169. Clin Med (Lond). 2019. PMID: 30872305 Free PMC article. Review.
Long segments of spinal cord inflammation (myelitis), severe optic neuritis, and/or bouts of intractable vomiting and hiccoughs (area postrema syndrome) are classic presentations of the disease and may alert the clinician to the diagnosis. ...
Long segments of spinal cord inflammation (myelitis), severe optic neuritis, and/or bouts of intractable vomiting and hiccoughs (area postre …
The RASopathies.
Rauen KA. Rauen KA. Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. Annu Rev Genomics Hum Genet. 2013. PMID: 23875798 Free PMC article. Review.
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. These disorders include neurofibromatosis type 1, Noonan sy …
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or …
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 …
394 results