Paper · 21396583
Noonan syndrome and clinically related disorders.
Tartaglia M and 2 others. Best Pract Res Clin Endocrinol Metab, 2011. Cited by 315 papers, by iCite.
11 sourcespapers-2026-11-12-0.1.0
Cite this record
ConductScience Library. Noonan syndrome and clinically related disorders. Papers, record 21396583. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/21396583
On this page
Paper
PubMed's record of the paper, with iCite's citation figures. No abstract is shown.
- Publication types
- Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review
- PubMed
Topics20
NLM's MeSH indexing of the paper, its major topics first.
| MeSH term | Major |
|---|---|
| Noonan Syndrome | Major topic |
| Adolescent | |
| Child | |
| Costello Syndrome | |
| Ectodermal Dysplasia | |
| Facies | |
| Failure to Thrive | |
| Heart Defects, Congenital | |
| Humans | |
| Infant | |
| Intracellular Signaling Peptides and Proteins | |
| LEOPARD Syndrome | |
| Loose Anagen Hair Syndrome | |
| Mitogen-Activated Protein Kinases | |
| Neurofibromatosis 1 | |
| Protein Tyrosine Phosphatase, Non-Receptor Type 11 | |
| Proto-Oncogene Proteins B-raf | |
| Proto-Oncogene Proteins c-cbl | |
| Proto-Oncogene Proteins c-raf | |
| SOS1 Protein |
Source PubMed
Grants3
Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.
| Grant, as the record writes it | Agency | Country | NIH project | Stated by | Source |
|---|---|---|---|---|---|
| GGP10020 | Telethon | Italy | PubMed | PubMed | |
| R01 HL071207 | NHLBI NIH HHS | United States | R01HL071207 | PubMed and NIH | NIH RePORTER |
| HL71207 | NHLBI NIH HHS | United States | R01HL071207 | PubMed and NIH | NIH RePORTER |
Trials0
The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.
None in this release.
Comments and corrections0
PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.
None in this release.
References110
The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.
| Order | PMID | Title | Journal | Year | In Papers | Source |
|---|---|---|---|---|---|---|
| 1 | 15,761,018 | Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells. | Blood | 2005 | https://conductscience.org/library/papers/15761018 | PubMed |
| 2 | 16,825,433 | The cardiofaciocutaneous syndrome. | J Med Genet | 2006 | https://conductscience.org/library/papers/16825433 | PubMed |
| 3 | 18,562,489 | Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11. | Eur J Endocrinol | 2008 | https://conductscience.org/library/papers/18562489 | PubMed |
| 4 | 16,474,405 | Germline KRAS mutations cause Noonan syndrome. | Nat Genet | 2006 | https://conductscience.org/library/papers/16474405 | PubMed |
| 5 | 15,001,945 | Genotype-phenotype correlations in Noonan syndrome. | J Pediatr | 2004 | https://conductscience.org/library/papers/15001945 | PubMed |
| 6 | 19,684,605 | Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. | Nat Genet | 2009 | https://conductscience.org/library/papers/19684605 | PubMed |
| 7 | 19,133,693 | Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade. | Am J Med Genet A | 2009 | https://conductscience.org/library/papers/19133693 | PubMed |
| 8 | 15,948,193 | Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. | Am J Med Genet A | 2005 | https://conductscience.org/library/papers/15948193 | PubMed |
| 9 | 17,222,357 | Noonan syndrome. | Orphanet J Rare Dis | 2007 | https://conductscience.org/library/papers/17222357 | PubMed |
| 10 | 10,586,172 | Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. | J Pediatr | 1999 | https://conductscience.org/library/papers/10586172 | PubMed |
1 to 10 of 110
See all 110 referencesCited by188
The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 315 citations.
| PMID | Title | Journal | Year | In Papers | Source |
|---|---|---|---|---|---|
| 42,711,118 | An Allometric Approach to Fine-Mapping Subcortical Volume Alterations in RASopathies. | eNeuro | 2026 | https://conductscience.org/library/papers/42711118 | PubMed |
| 42,667,574 | Berberine Attenuates Hypertrophic Phenotype in RAF1-Mutant Induced Pluripotent Stem Cell-Derived Cardiomyocytes through Suppression of ERK5-Cyclin D1 Signaling. | Cardiovasc Drugs Ther | 2026 | https://conductscience.org/library/papers/42667574 | PubMed |
| 42,393,925 | Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort. | Clin Genet | 2026 | https://conductscience.org/library/papers/42393925 | PubMed |
| 42,261,585 | Clinical and Molecular Portraits of Pediatric RASopathies: A Study of 118 Genotype-Confirmed Cases. | Clin Genet | 2026 | https://conductscience.org/library/papers/42261585 | PubMed |
| 42,193,013 | Molecular Advances in Juvenile Myelomonocytic Leukemia and Associated RASopathy. | Cancers (Basel) | 2026 | https://conductscience.org/library/papers/42193013 | PubMed |
| 42,089,274 | Effects of neighborhood level health and environment quality on academic and executive abilities in youth with Noonan syndrome spectrum disorder. | J Int Neuropsychol Soc | 2026 | https://conductscience.org/library/papers/42089274 | PubMed |
| 42,048,443 | Restoring the 14-3-3/CRAF regulatory interaction in Noonan syndrome using molecular glues. | Proc Natl Acad Sci U S A | 2026 | https://conductscience.org/library/papers/42048443 | PubMed |
| 41,988,663 | Clinical and Genetic Characterization of Noonan Syndrome in a Colombian Pediatric Cohort | J Clin Res Pediatr Endocrinol | 2026 | https://conductscience.org/library/papers/41988663 | PubMed |
| 41,960,129 | The impact of genotype-phenotype on the prognosis of children with hypertrophic cardiomyopathy. | JTCVS Open | 2026 | https://conductscience.org/library/papers/41960129 | PubMed |
| 41,959,461 | High-throughput biochemical phenotyping of SHP2 variants reveals the molecular basis of diseases and allosteric drug inhibition. | bioRxiv | 2026 | https://conductscience.org/library/papers/41959461 | PubMed |
1 to 10 of 188
See all 188 cited byGenes23
The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.
| Gene | NCBI Gene ID | Linked by | In Genes | Source |
|---|---|---|---|---|
| ARAF | 369 | PubTator's text mining | https://conductscience.org/library/genes/369 | NCBI Gene |
| ARHGEF2 | 9,181 | PubTator's text mining | https://conductscience.org/library/genes/9181 | NCBI Gene |
| BRAF | 673 | PubTator's text mining | https://conductscience.org/library/genes/673 | NCBI Gene |
| CBL | 867 | PubTator's text mining | https://conductscience.org/library/genes/867 | NCBI Gene |
| CDC25C | 995 | PubTator's text mining | https://conductscience.org/library/genes/995 | NCBI Gene |
| GGH | 8,836 | PubTator's text mining | https://conductscience.org/library/genes/8836 | NCBI Gene |
| HRAS | 3,265 | PubTator's text mining | https://conductscience.org/library/genes/3265 | NCBI Gene |
| KRAS | 3,845 | PubTator's text mining | https://conductscience.org/library/genes/3845 | NCBI Gene |
| MAP2K1 | 5,604 | PubTator's text mining | https://conductscience.org/library/genes/5604 | NCBI Gene |
| MAP2K7 | 5,609 | PubTator's text mining | https://conductscience.org/library/genes/5609 | NCBI Gene |
1 to 10 of 23
See all 23 genesDrugs0
The drugs whose trials, in the Pipelines release, list the paper.
None in this release.
Data0
The data bank entries PubMed's record names. Trial numbers are under Trials.
None in this release.
Data dates
The date of each source this release read.
- Trials
- 2026-11-12
- Gene search
- 2026-11-11
- Pipelines
- 2026-09-18
Sources 11
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- HGNCCC0
- iCiteCC BY 4.0
- NCBI GenePublic domain (US government)
- NIH RePORTER's grant and paper linksPublic domain
- Open TargetsCC0 1.0
- PMC's ID filePublic domain (US government)
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0
Each source's terms
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- HGNCCC0: https://www.genenames.org/about/license/
- iCiteCC BY 4.0
- NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this paper from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/papers/v1/21396583
GET https://conductscience.org/api/papers/v1/21396583/references?page=2