(Q34508306)

2 August 2017

0 references

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation (English)

1 reference

2 August 2017

1 reference

7

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2 August 2017

3

Daniela Melis

0 references

Loredana Palamaro

6

object named as

Loredana Palamaro

1 reference

2 August 2017

Donatella Capalbo

1

1 reference

2 August 2017

Maria Giuseppa Scala

2

1 reference

2 August 2017

Daniela Melis

3

1 reference

2 August 2017

Giorgia Minopoli

4

1 reference

2 August 2017

Nicola Improda

5

1 reference

2 August 2017

Mariacarolina Salerno

8

1 reference

2 August 2017

publication date

20 September 2012

1 reference

Italian Journal of Paediatrics

2 August 2017

published in

1 reference

2 August 2017

volume

38

1 reference

2 August 2017

page(s)

48

1 reference

https://scigraph.springernature.com/pub.10.1186/1824-7288-38-48

2 August 2017

exact match

0 references

cites work

Genetic basis of altered central tolerance and autoimmune diseases: a lesson from AIRE mutations

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Role of the common γ chain in cell cycle progression of human malignant cell lines

7 July 2018

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STAT5b deficiency: lessons from STAT5b gene mutations

7 July 2018

1 reference

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Tourette Syndrome in Children: An Updated Review

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231415

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4231415

Immunopathogenic mechanisms in tourette syndrome: A critical review

7 July 2018

1 reference

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The cellular amount of the common gamma-chain influences spontaneous or induced cell proliferation

7 July 2018

1 reference

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Abnormal growth in noonan syndrome: genetic and endocrine features and optimal treatment

7 July 2018

1 reference

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Tic disorders in childhood

7 July 2018

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Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

7 July 2018

1 reference

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Abnormal GH receptor signaling in children with idiopathic short stature

7 July 2018

1 reference

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

7 July 2018

1 reference

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Growth hormone (GH) insensitivity due to primary GH receptor deficiency

7 July 2018

1 reference

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Noonan-like syndrome with loose anagen hair: a new syndrome?

7 July 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Atypical X-linked SCID phenotype associated with growth hormone hyporesponsiveness

21 January 2018

1 reference

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Magnetic resonance imaging is an accurate and reliable method to evaluate non-cystic fibrosis paediatric lung disease

21 January 2018

1 reference

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Cut-off limits of the GH response to GHRH plus arginine test and IGF-I levels for the diagnosis of GH deficiency in late adolescents and young adults

21 January 2018

1 reference

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Prospective evaluation of the natural course of idiopathic subclinical hypothyroidism in childhood and adolescence

21 January 2018

1 reference

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Antipituitary antibodies recognizing growth hormone (GH)-producing cells in children with idiopathic GH deficiency and in children with idiopathic short stature.

21 January 2018

1 reference

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

21 January 2018

1 reference

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D(4) dopamine receptor differentially regulates Akt/nuclear factor-kappa b and extracellular signal-regulated kinase pathways in D(4)MN9D cells.

27 October 2018

1 reference

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Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

27 October 2018

1 reference

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Molecular background and genotype-phenotype correlation in autoimmune-polyendocrinopathy-candidiasis-ectodermal-distrophy patients from Campania and in their relatives.

21 January 2018

1 reference

12 December 2020

Comparative Evaluation of Therapy with L -Thyroxine versus No Treatment in Children with Idiopathic and Mild Subclinical Hypothyroidism

1 reference

12 December 2020

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

1 reference

12 December 2020

Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations

1 reference

12 December 2020

High intrafamilial variability in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a case study

1 reference

12 December 2020

The natural history of the normal/mild elevated TSH serum levels in children and adolescents with Hashimoto's thyroiditis and isolated hyperthyrotropinaemia: a 3-year follow-up

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12 December 2020

Linear growth and intellectual outcome in children with long-term idiopathic subclinical hypothyroidism

1 reference

12 December 2020

Assessment of Chest High-Field Magnetic Resonance Imaging in Children and Young Adults With Noncystic Fibrosis Chronic Lung Disease

1 reference

12 December 2020

Identifiers

DOI

10.1186/1824-7288-38-48

1 reference

Dimensions Publication ID

2 August 2017

0 references

1 reference

2 August 2017

1 reference