(Q55129574)

English

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.

scientific article published in May 2010

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/4910816

1 reference

Europe PubMed Central

High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities. (English)

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/4910816

Costello syndrome

1 reference

based on heuristic

inferred from title

William B. Dobyns

4

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/4910816

1

object named as

Karen W Gripp

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/4910816

author name string

Elizabeth Hopkins

2

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/4910816

Daniel Doyle

3

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/4910816

language of work or name

0 references

publication date

1 May 2010

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/4910816

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/4910816

152A

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/4910816

5

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/4910816

1161-1168

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/4910816

Association of Chiari malformation type I and tethered cord syndrome: preliminary results of sectioning filum terminale

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

24 June 2018

Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation Type I in patients with hereditary disorders of connective tissue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

24 June 2018

Costello syndrome and related disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

24 June 2018

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

24 June 2018

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=4910816

24 June 2018

Costello syndrome and Chiari I malformation: apropos of a case with a review of the literature regarding a potential association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

24 June 2018

Is growth hormone treatment beneficial or harmful in Costello syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

24 June 2018

Syringomyelia without hindbrain herniation: tight cisterna magna. Report of four cases 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=4910816

24 June 2018

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=4910816

24 June 2018

Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

24 June 2018

Atypical hemifacial microsomia associated with Chiari I malformation and syrinx: further evidence indicating that chiari I malformation is a disorder of the paraaxial mesoderm. 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=4910816

24 June 2018

Transgenic activation of Ras in neurons promotes hypertrophy and protects from lesion-induced degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

24 June 2018

Costello syndrome: two cases with embryonal rhabdomyosarcoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

24 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

24 June 2018

Costello syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

24 June 2018

Chiari malformation and tonsillar ectopia in twin brothers and father with autosomal dominant spondylo-epiphyseal dysplasia tarda.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

24 June 2018

Posterior cranial fossa dimensions in the Chiari I malformation: relation to pathogenesis and clinical presentation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

24 June 2018

Chiari (type 1) malformation and syringomyelia in a patient with Noonan's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

24 June 2018

Incidence of basioccipital hypoplasia in Chiari malformation type I: comparative morphometric study of the posterior cranial fossa. Clinical article

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

13 August 2018

Costello syndrome H-Ras alleles regulate cortical development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

13 August 2018

Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

13 August 2018

Neurological complications of 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=4910816

13 August 2018

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

13 August 2018

Longitudinal assessment of cognitive characteristics in Costello syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

13 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

13 August 2018

The adult phenotype in Costello syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

13 August 2018

Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

13 August 2018

Costello syndrome and neurological abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

13 August 2018

Type 1 Arnold???Chiari malformation and Noonan syndrome. A new diagnostic feature?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

13 August 2018

Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

13 August 2018

Pathogenesis of Chiari malformation: a morphometric study of the posterior cranial fossa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

13 August 2018

Posterior fossa volume and response to suboccipital decompression in patients with Chiari I malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

13 August 2018

Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4910816

30 November 2018

Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20425820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Second case of bladder carcinoma in a patient with Costello syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20425820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chiari I malformation and neurofibromatosis type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/20425820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal bias in parental origin of HRAS mutations in Costello syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20425820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Living with Costello syndrome: quality of life issues in older individuals

1 reference

https://pubmed.ncbi.nlm.nih.gov/20425820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Elevated catecholamine metabolites in patients with Costello syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20425820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Longitudinal course of cognitive, adaptive, and behavioral characteristics in Costello syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20425820

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.33391

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/4910816

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/4910816

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

22 June 2018

http://europepmc.org/abstract/PMC/4910816

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