(Q57882269)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17563086%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients (English)

1 reference

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31 December 2019

0 references

1

1 reference

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31 December 2019

Gabriel Capella

8

1 reference

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31 December 2019

Ignacio Blanco

9

1 reference

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31 December 2019

10

Conxi Lázaro

1 reference

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31 December 2019

author name string

Eva Pros

2

1 reference

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31 December 2019

Carles García

3

1 reference

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31 December 2019

Eva López

4

1 reference

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31 December 2019

Carolina Gómez

6

1 reference

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31 December 2019

Anna Ravella

7

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31 December 2019

M Lluïsa Gili

5

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31 December 2019

publication date

1 September 2007

1 reference

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Genes, Chromosomes and Cancer

31 December 2019

published in

1 reference

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31 December 2019

volume

46

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31 December 2019

issue

9

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31 December 2019

page(s)

820-827

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Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation

31 December 2019

cites work

1 reference

7 January 2021

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

1 reference

7 January 2021

Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene

1 reference

7 January 2021

Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene

1 reference

7 January 2021

Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.

1 reference

7 January 2021

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients.

1 reference

7 January 2021

Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.

1 reference

7 January 2021

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity

1 reference

7 January 2021

A search for evidence of somatic mutations in the NF1 gene.

1 reference

7 January 2021

Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma

1 reference

7 January 2021

Cell culture studies on neurofibromatosis (von Recklinghausen). V. Monosomy 22 and other chromosomal anomalies in cultures from peripheral neurofibromas

1 reference

7 January 2021

Prenatal diagnosis of neurofibromatosis type 1: from flanking RFLPs to intragenic microsatellite markers.

1 reference

7 January 2021

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

1 reference

7 January 2021

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

1 reference

7 January 2021

Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1

1 reference

7 January 2021

Identification of NF1 mutations in both alleles of a dermal neurofibroma

1 reference

7 January 2021

Confirmation of a double-hit model for the NF1 gene in benign neurofibromas

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas

1 reference

7 January 2021

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

1 reference

7 January 2021

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

1 reference

7 January 2021

Identifiers

DOI

10.1002/GCC.20468

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17563086%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference