Noonan syndrome (Q27001641)

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Language	Label	Description	Also known as
English	Noonan syndrome	scientific article

Statements

scholarly article

1 reference

1 reference

Europe PubMed Central

Noonan syndrome (English)

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Noonan syndrome

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based on heuristic

inferred from title

Marco Tartaglia

3

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Judith Allanson

2

object named as

Judith E Allanson

1 reference

author name string

Amy E Roberts

1

1 reference

Bruce D Gelb

4

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language of work or name

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publication date

26 January 2013

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381

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9863

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333-42

1 reference

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

21 March 2017

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

21 March 2017

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

21 March 2017

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

21 March 2017

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

21 March 2017

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

21 March 2017

A restricted spectrum of NRAS mutations causes Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

21 March 2017

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

21 March 2017

The guanine nucleotide-binding switch in three dimensions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

21 March 2017

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

21 March 2017

Germline KRAS mutations cause Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

21 March 2017

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

21 March 2017

Germline mutations in HRAS proto-oncogene cause Costello syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

21 March 2017

Germ-line and somatic PTPN11 mutations in human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

21 March 2017

Small GTP-binding proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

7 April 2017

Hyperactive Ras in developmental disorders and cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

7 April 2017

The RAF proteins take centre stage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Noonan syndrome: clinical features, diagnosis, and management guidelines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Noonan syndrome: clinical aspects and molecular pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

The language phenotype of children and adolescents with Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Approach to the patient with Turner syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Protein tyrosine phosphatase SHP-2: a proto-oncogene product that promotes Ras activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Impaired Sertoli cell function in males diagnosed with Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Genotype differences in cognitive functioning in Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Raf kinases: function, regulation and role in human cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Malfunctions within the Cbl interactome uncouple receptor tyrosine kinases from destructive transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Rhabdomyosarcoma in a patient with Noonan syndrome phenotype and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

The natural history of Noonan syndrome: a long-term follow-up study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Raf kinases: oncogenesis and drug discovery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Tumor predisposition in Costello syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Genotype-phenotype correlations in Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Orbital rhabdomyosarcoma in Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Costello syndrome: an overview

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Further delineation of cardiac abnormalities in Costello syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Spinal deformities in Noonan syndrome: a clinical review of sixty cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Short stature in Noonan syndrome: response to growth hormone therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Juvenile myelomonocytic leukemia and Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Prenatal features of Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Occurrence of myeloproliferative disorder in patients with Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Vaginal rhabdomyosarcoma in a patient with Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Behavioural aspects and psychiatric findings in Noonan's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

The Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Noonan syndrome: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Noonan-like/multiple giant cell lesion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Hearing loss in Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Cerebral arteriovenous malformation in Noonan's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

A clinical study of Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 September 2017

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

31 May 2018

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

31 May 2018

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

31 May 2018

SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

31 May 2018

Audiologic manifestations of Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

31 May 2018

Multiple temporal bone anomalies associated with Noonan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

31 May 2018

Noonan syndrome: the changing phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

31 May 2018

Bleeding diathesis in Noonan syndrome: a common association.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

31 May 2018

Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

31 May 2018

The face of Noonan syndrome: Does phenotype predict genotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

19 June 2018

Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

Tumor development in three patients with Noonan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

Psychological profile of children with Noonan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

PTPN11 mutations in LEOPARD syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

Fetal nuchal translucency and normal chromosomes: a long-term follow-up study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

A 16-year-old male with Noonan's syndrome develops progressive scoliosis and deteriorating gait.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

Noonan syndrome and moyamoya.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4267483

28 November 2018

Growth hormone treatment in Noonan syndrome: the National Cooperative Growth Study experience

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

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

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult height in Noonan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

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

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

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

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Noonan syndrome in an adult family presenting with chronic lymphedema

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Lymphedema in Noonan's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

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

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Noonan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Noonan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Noonan syndrome: psychological and psychiatric aspects

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

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

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence of priapism in children and adolescents with sickle cell anemia.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Noonan Syndrome and Neuroblastoma

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A case of Noonan's syndrome with possible associated neuroblastoma

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

7 January 2021

based on heuristic

inferred from DOI database lookup

First trimester isolated fetal nuchal lucency: significance and outcome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

7 January 2021

based on heuristic

inferred from DOI database lookup

The pathway to signal achievement

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Noonan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2812%2961023-X

7 January 2021

based on heuristic

inferred from DOI database lookup

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