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Noonan syndrome
scientific article
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scholarly article
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PubMed
review article
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Europe PubMed Central
title
Noonan syndrome
(English)
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main subject
Noonan syndrome
1 reference
based on heuristic
inferred from title
author
Marco Tartaglia
series ordinal
3
0 references
Bruce D. Gelb
0 references
Judith Allanson
series ordinal
2
object named as
Judith E Allanson
1 reference
stated in
Crossref
author name string
Amy E Roberts
series ordinal
1
1 reference
stated in
Crossref
Bruce D Gelb
series ordinal
4
1 reference
stated in
Crossref
language of work or name
English
1 reference
stated in
PubMed
publication date
26 January 2013
1 reference
stated in
PubMed
published in
The Lancet
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stated in
PubMed
volume
381
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stated in
PubMed
issue
9863
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stated in
PubMed
page(s)
333-42
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PubMed
cites work
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
A restricted spectrum of NRAS mutations causes Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
The guanine nucleotide-binding switch in three dimensions
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
Germline gain-of-function mutations in SOS1 cause Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
Germline KRAS mutations cause Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
Germline mutations in HRAS proto-oncogene cause Costello syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
Germ-line and somatic PTPN11 mutations in human disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
21 March 2017
Small GTP-binding proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
7 April 2017
Hyperactive Ras in developmental disorders and cancer
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
7 April 2017
The RAF proteins take centre stage
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
7 April 2017
Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Noonan syndrome: clinical features, diagnosis, and management guidelines
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Noonan syndrome: clinical aspects and molecular pathogenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
The language phenotype of children and adolescents with Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Approach to the patient with Turner syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Protein tyrosine phosphatase SHP-2: a proto-oncogene product that promotes Ras activation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Impaired Sertoli cell function in males diagnosed with Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Primary mixed glioneuronal tumor of the central nervous system in a patient with noonan syndrome: a case report and review of the literature
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Genotype differences in cognitive functioning in Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Germline gain-of-function mutations in RAF1 cause Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Raf kinases: function, regulation and role in human cancer
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Malfunctions within the Cbl interactome uncouple receptor tyrosine kinases from destructive transport
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Rhabdomyosarcoma in a patient with Noonan syndrome phenotype and review of the literature
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
The natural history of Noonan syndrome: a long-term follow-up study
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Raf kinases: oncogenesis and drug discovery
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Tumor predisposition in Costello syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Genotype-phenotype correlations in Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Value of an early arteriographic acquisition for evaluating the splanchnic vessels as an adjunct to biphasic CT using a multislice scanner
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Orbital rhabdomyosarcoma in Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Costello syndrome: an overview
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Further delineation of cardiac abnormalities in Costello syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Spinal deformities in Noonan syndrome: a clinical review of sixty cases.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Short stature in Noonan syndrome: response to growth hormone therapy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Juvenile myelomonocytic leukemia and Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Prenatal features of Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Occurrence of myeloproliferative disorder in patients with Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Vaginal rhabdomyosarcoma in a patient with Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Behavioural aspects and psychiatric findings in Noonan's syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
The Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Noonan syndrome: a review
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Noonan-like/multiple giant cell lesion syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Hearing loss in Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Cerebral arteriovenous malformation in Noonan's syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
A clinical study of Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 September 2017
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
31 May 2018
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
31 May 2018
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
31 May 2018
SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
31 May 2018
Increased first trimester nuchal translucency: pregnancy and infant outcomes after routine screening for Down's syndrome in an unselected antenatal population.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
31 May 2018
Audiologic manifestations of Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
31 May 2018
Multiple temporal bone anomalies associated with Noonan syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
31 May 2018
Noonan syndrome: the changing phenotype.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
31 May 2018
Bleeding diathesis in Noonan syndrome: a common association.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
31 May 2018
Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
31 May 2018
The face of Noonan syndrome: Does phenotype predict genotype.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
19 June 2018
Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Growth response, near-adult height, and patterns of growth and puberty in patients with noonan syndrome treated with growth hormone
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Tumor development in three patients with Noonan syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Psychological profile of children with Noonan syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
PTPN11 mutations in LEOPARD syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Fetal nuchal translucency and normal chromosomes: a long-term follow-up study.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
A 16-year-old male with Noonan's syndrome develops progressive scoliosis and deteriorating gait.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Noonan syndrome and moyamoya.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483
retrieved
28 November 2018
Growth hormone treatment in Noonan syndrome: the National Cooperative Growth Study experience
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Adult height in Noonan syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Estrogen deficiency is a potential cause for osteopenia in adult male patients with Noonan's syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The use of recombinant factor VIIa in a patient with Noonan syndrome and life-threatening bleeding
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Noonan syndrome in an adult family presenting with chronic lymphedema
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lymphedema in Noonan's syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Noonan syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Noonan syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Noonan syndrome: psychological and psychiatric aspects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spontaneous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prevalence of priapism in children and adolescents with sickle cell anemia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Noonan Syndrome and Neuroblastoma
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A case of Noonan's syndrome with possible associated neuroblastoma
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
First trimester isolated fetal nuchal lucency: significance and outcome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The pathway to signal achievement
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Noonan syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0140-6736(12)61023-X
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
322681
OpenCitations bibliographic resource ID
322681
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
322681
PMCID
4267483
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
322681
PubMed ID
23312968
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
322681
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