(Q35846971)

10 August 2017

3 references

22 March 2019

22 April 2019

17 June 2019

Noonan syndrome and related disorders: alterations in growth and puberty (English)

1 reference

10 August 2017

3 references

22 March 2019

22 April 2019

17 June 2019

Jacqueline A Noonan

1

1 reference

PMC publication ID

1894828

10 August 2017

language of work or name

1 reference

1 December 2006

4 references

Reviews in Endocrine and Metabolic Disorders

10 August 2017

22 March 2019

22 April 2019

17 June 2019

4 references

10 August 2017

22 March 2019

22 April 2019

17 June 2019

7

1 reference

10 August 2017

4

1 reference

10 August 2017

251-255

1 reference

https://scigraph.springernature.com/pub.10.1007/s11154-006-9021-1

10 August 2017

0 references

cites work

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=1894828

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Germline mutations in HRAS proto-oncogene cause Costello syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Genotype-phenotype correlations in Noonan syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Is growth hormone treatment beneficial or harmful in Costello syndrome?

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Costello syndrome: an overview

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Further delineation of cardiac abnormalities in Costello syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Cardiac disease in Costello syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

The short-term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with Noonan's syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Growth hormone treatment in Noonan syndrome: report of four cases who reached final height

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Skin manifestations of cardio-facio-cutaneous syndrome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Noonan syndrome. An update and review for the primary pediatrician

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Multiple Lentigenes Syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Noonan syndrome: growth and clinical manifestations in 144 cases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Noonan syndrome: relationships between genotype, growth, and growth factors

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Growth hormone therapy and growth in children with Noonan's syndrome: results of 3 years' follow-up.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1894828

Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment

24 September 2018

1 reference

12 December 2020

Adult height in Noonan syndrome

1 reference

12 December 2020

Noonan's Syndrome: Abnormalities of the Growth Hormone/IGF-I Axis and the Response to Treatment with Human Biosynthetic Growth Hormone

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S11154-006-9021-1

Identifiers

DOI

1 reference

10 August 2017

1 reference

PMC publication ID

1894828

10 August 2017

PubMed publication ID

17177115

1 reference

PMC publication ID

1894828