(Q36553714)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

review article

1 reference

title

Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

author name string

Sadhanna Badeloe

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Michel van Geel

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Jesús Bastida

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Juan Ferrando

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Peter M Steijlen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Jorge Frank

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Pamela Poblete-Gutiérrez

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

publication date

1 September 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

published in

Experimental Dermatology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

page(s)

735-741

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

Cutaneous smooth muscle neoplasms: clinical features, histologic findings, and treatment options

28 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Germline Fumarate Hydratase Mutations in Families with Multiple Cutaneous and Uterine Leiomyomata

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Consed: a graphical tool for sequence finishing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

A perfect message: RNA surveillance and nonsense-mediated decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Killing the messenger: new insights into nonsense-mediated mRNA decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Molecular genetic analysis of FIH-1, FH, and SDHB candidate tumour suppressor genes in renal cell carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0625.2006.00470.X

10.1111/J.1600-0625.2006.00470.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16881969%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference