(Q36604645)

15 August 2017

1 reference

title

Mosaic RASopathies (English)

1 reference

15 August 2017

Christian Hafner

1

1 reference

15 August 2017

Leopold Groesser

series ordinal

2

1 reference

15 August 2017

19 December 2012

1 reference

15 August 2017

8

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inferred from page(s)

published in

Cell Cycle

1 reference

15 August 2017

12

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15 August 2017

1

1 reference

15 August 2017

43-50

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Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

RAS mutations in cutaneous squamous-cell carcinomas in patients treated with BRAF inhibitors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

RAS mutations are associated with the development of cutaneous squamous cell tumors in patients treated with RAF inhibitors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Nevus sebaceous revisited

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Multiple oncogenic mutations and clonal relationship in spatially distinct benign human epidermal tumors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

The group of epidermal nevus syndromes Part I. Well defined phenotypes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

RAS signaling dysregulation in human embryonal Rhabdomyosarcoma

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Ten cases of sebaceous carcinoma arising in nevus sebaceus

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Neurofibromatosis type 1 revisited

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Hyperactive Ras in developmental disorders and cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Germline mutations in HRAS proto-oncogene cause Costello syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

RASA1: variable phenotype with capillary and arteriovenous malformations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Segmental neurofibromatosis follows blaschko's lines or dermatomes depending on the cell line affected: case report and literature review

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Squamous cell carcinoma and basal cell carcinoma arising in a naevus sebaceous of Jadassohn: case report and literature review

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Epidermal nevus syndromes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

The epidermal nevus syndromes: multisystem disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Clinical contribution to symptomatology of phacomatosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

High frequency of BRAF mutations in nevi

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Mutations of the BRAF gene in human cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

GTPase activating proteins: critical regulators of intracellular signaling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Review of neurological manifestations in 196 patients with sebaceous naevi

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: a clinicopathologic and molecular study of 17 patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Somatic mosaicism in a patient with neurofibromatosis type 1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Mosaicism in human skin. Understanding the patterns and mechanisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

The GTPase superfamily: conserved structure and molecular mechanism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Clonality of basal cell carcinoma arising in an epidermal nevus. New insights provided by molecular analysis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Oncogenic properties of the mutated forms of fibroblast growth factor receptor 3b.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Genetic and clinical mosaicism in a patient with neurofibromatosis type 1

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Keratinocytic epidermal nevi are associated with mosaic RAS mutations.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Identification of a novel S249C FGFR3 mutation in a keratinocytic epidermal naevus syndrome.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

FGFR3 mutation affects cell growth, apoptosis and attachment in keratinocytes.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

FGFR3 mutations in benign skin tumors.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

High frequency of FGFR3 mutations in adenoid seborrheic keratoses.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3570515

Klinischer Beitrag zur Symptomatologie der Phakomatosen

20 September 2018

1 reference

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

21 January 2018

1 reference

LEOPARD syndrome with partly normal skin and sex chromosome mosaicism

21 January 2018

1 reference

SIGNAL TRANSDUCTION: Prelude to an Anniversary for the RAS Oncogene

21 January 2018

1 reference

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

21 January 2018

1 reference

12 December 2020

Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma

1 reference

12 December 2020

Spectrum of FGFR3 mutations in multiple intraindividual seborrheic keratoses

1 reference

12 December 2020

A non-epidermolytic epidermal naevus of a soft, papillomatous type with transitional cell cancer of the bladder: a case report and a review of non-cutaneous cancers associated with the epidermal naevi

1 reference

12 December 2020

An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation

1 reference

12 December 2020

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism

1 reference

12 December 2020

Carcinosarcoma derived from nevus sebaceus

1 reference

12 December 2020

Low incidence of EGFR and HRAS mutations in cutaneous squamous cell carcinomas of a German cohort

1 reference

12 December 2020

HRAS mutation mosaicism causing urothelial cancer and epidermal nevus

1 reference

12 December 2020

Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets

1 reference

12 December 2020

Epidermal naevus syndrome (Solomon's syndrome) associated with bladder cancer in a 20-year-old female

1 reference

12 December 2020

Epidermal nevus syndromes: clinical findings in 35 patients

1 reference

12 December 2020

Epidermal nevus syndrome: report of association with transitional cell carcinoma of the bladder

1 reference

12 December 2020

Epidermal nevus with transitional cell carcinomas of the urinary tract

1 reference

12 December 2020

More on the frequency of segmental neurofibromatosis

1 reference

12 December 2020

Identifiers

DOI

10.4161/CC.23108

1 reference

release_uoxkvlbqwfdedfzquisv3bvswi

15 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/uoxkvlbqwfdedfzquisv3bvswi

24 November 2022

mapped directly with Wikidata item

1 reference

15 August 2017

PubMed publication ID

23255105

1 reference