(Q54505431)

30 May 2018

title

Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. (English)

1 reference

30 May 2018

author

Francisco X Real

12

1 reference

30 May 2018

Enrico Lopriore

5

object named as

Enrico Lopriore

1 reference

30 May 2018

author name string

Leopold Groesser

1

1 reference

30 May 2018

Eva Herschberger

2

1 reference

30 May 2018

Arno Ruetten

3

1 reference

30 May 2018

Claudia Ruivenkamp

4

1 reference

30 May 2018

Markus Zutt

6

1 reference

30 May 2018

Thomas Langmann

7

1 reference

30 May 2018

Sebastian Singer

8

1 reference

30 May 2018

Laura Klingseisen

9

1 reference

30 May 2018

Wulf Schneider-Brachert

10

1 reference

30 May 2018

Agusti Toll

11

1 reference

30 May 2018

Michael Landthaler

13

1 reference

30 May 2018

Christian Hafner

14

1 reference

30 May 2018

language of work or name

English

0 references

publication date

10 June 2012

1 reference

30 May 2018

published in

Nature Genetics

1 reference

30 May 2018

volume

44

1 reference

30 May 2018

issue

7

1 reference

30 May 2018

page(s)

783-787

1 reference

30 May 2018

https://scigraph.springernature.com/pub.10.1038/ng.2316

exact match

0 references

cites work

Epidermal nevi and the epidermal nevus syndromes: a review of 233 cases

1 reference

Nevus sebaceous revisited

21 January 2018

1 reference

Ten cases of sebaceous carcinoma arising in nevus sebaceus

21 January 2018

1 reference

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

21 January 2018

1 reference

Klinischer Beitrag zur Symptomatologie der Phakomatosen

21 January 2018

1 reference

Review of neurological manifestations in 196 patients with sebaceous naevi

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi

21 January 2018

1 reference

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

21 January 2018

1 reference

Germline mutations in HRAS proto-oncogene cause Costello syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Somatic mosaicism for an HRAS mutation causes Costello syndrome.

21 January 2018

1 reference

Endogenous oncogenic K-ras(G12D) stimulates proliferation and widespread neoplastic and developmental defects.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Germline KRAS mutations cause Noonan syndrome

21 January 2018

1 reference

Biochemical and functional characterization of germ line KRAS mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

High frequency of FGFR3 mutations in adenoid seborrheic keratoses.

21 January 2018

1 reference

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

21 January 2018

1 reference

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

21 January 2018

1 reference

Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.

21 January 2018

1 reference

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

21 January 2018

1 reference

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

21 January 2018

1 reference

FGFR3, HRAS, KRAS, NRAS and PIK3CA mutations in bladder cancer and their potential as biomarkers for surveillance and therapy.

21 January 2018

1 reference

A SNaPshot assay for the rapid and simple detection of four common hotspot codon mutations in the PIK3CA gene

21 January 2018

1 reference

HRAS mutation mosaicism causing urothelial cancer and epidermal nevus

21 January 2018

1 reference

12 December 2020

Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets

1 reference

12 December 2020

Mosaicism in human skin. Understanding the patterns and mechanisms

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

Epidermal nevus syndromes

1 reference

12 December 2020

Clinical contribution to symptomatology of phacomatosis

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.2316

1 reference

30 May 2018

Dimensions Publication ID

0 references

1 reference

30 May 2018