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

Year Number of Results
1969 1
1973 1
1976 1
1978 2
1979 3
1981 1
1982 1
1984 1
1985 2
1986 1
1987 3
1989 4
1990 2
1991 4
1992 5
1993 6
1994 5
1995 2
1996 12
1997 2
1998 4
1999 8
2000 5
2001 2
2002 10
2003 10
2004 5
2005 8
2006 9
2007 15
2008 15
2009 22
2010 13
2011 17
2012 14
2013 15
2014 19
2015 22
2016 18
2017 14
2018 14
2019 10
2020 22
2021 23
2022 30
2023 6

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379 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 …
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 …
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 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 …
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 …
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.
Germline mutations can result in distinctive syndromes, including Noonan syndrome, Costello syndrome, and neurofibromatosis type 1. ...
Germline mutations can result in distinctive syndromes, including Noonan syndrome, Costello syndrome, and neurofibromat …
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 …
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. ...
Functions of Shp2 in cancer.
Zhang J, Zhang F, Niu R. Zhang J, et al. J Cell Mol Med. 2015 Sep;19(9):2075-83. doi: 10.1111/jcmm.12618. Epub 2015 Jun 19. J Cell Mol Med. 2015. PMID: 26088100 Free PMC article. Review.
Shp2 is related to many diseases. Mutations in the ptpn11 gene cause Noonan syndrome, LEOPARD syndrome and childhood leukaemia. Shp2 is also involved in several cancer-related processes, including cancer cell invasion and metastasis, apoptosis, DNA damage, ce …
Shp2 is related to many diseases. Mutations in the ptpn11 gene cause Noonan syndrome, LEOPARD syndrome and childhood le …
379 results