(Q57304679)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10533064%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions (English)

1 reference

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Xavier Estivill i Pallejà

1 November 2019

author

object named as

Xavier Estivill

Xavier Estivill i Pallejà

4

0 references

4

1 reference

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1 November 2019

author name string

Catalina L�pez Correa

1

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Hilde Brems

2

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Conxi L�zaro

3

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Maurizio Clementi

5

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Silvia Mason

6

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J. Lynn Rutkowski

7

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Peter Marynen

8

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Eric Legius

9

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Lopez Correa C

1

1 reference

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1 November 2019

Brems H

2

1 reference

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1 November 2019

Lázaro C

3

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1 November 2019

Clementi M

5

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1 November 2019

Mason S

6

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1 November 2019

Rutkowski JL

7

1 reference

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1 November 2019

Marynen P

8

1 reference

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1 November 2019

Legius E

9

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1 November 2019

publication date

November 1999

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1 January 1999

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1 November 2019

1 reference

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1 November 2019

volume

14

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1 November 2019

page(s)

387-393

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1 November 2019

issue

5

1 reference

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cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene

1 November 2019

cites work

1 reference

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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

21 January 2018

1 reference

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Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?

21 January 2018

1 reference

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Identification and characterization of the neurofibromatosis type 1 protein product

21 January 2018

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

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Masquerading repeats: paralogous pitfalls of the human genome

21 January 2018

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Screening for truncated NF1 proteins

21 January 2018

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An STS-based map of the human genome

21 January 2018

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A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling

21 January 2018

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Paternal origin of new mutations in von Recklinghausen neurofibromatosis.

21 January 2018

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Programs for pedigree analysis: Mendel, Fisher, and dGene

21 January 2018

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A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene

21 January 2018

1 reference

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Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.

21 January 2018

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Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

21 January 2018

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Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis

21 January 2018

1 reference

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The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization

21 January 2018

1 reference

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Sex-dependent rearrangements resulting in CMT1A and HNPP.

21 January 2018

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cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

21 January 2018

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21 January 2018

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A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones

21 January 2018

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Molecular genetics of neurofibromatosis type 1 (NF1)

21 January 2018

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Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

21 January 2018

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Do NF1 gene deletions result in a characteristic phenotype?

21 January 2018

1 reference

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Analysis of mutations at the neurofibromatosis 1 (NF1) locus

21 January 2018

1 reference

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Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene

21 January 2018

1 reference

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Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

21 January 2018

1 reference

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Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

21 January 2018

1 reference

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The gene encoding the oligodendrocyte-myelin glycoprotein is embedded within the neurofibromatosis type 1 gene

21 January 2018

1 reference

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Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

21 January 2018

1 reference

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Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.

21 January 2018

1 reference

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The neurofibromatosis type 1 gene encodes a protein related to GAP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C387%3A%3AAID-HUMU4%3E3.0.CO%3B2-4

An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199911%2914%3A5%3C387%3A%3AAID-HUMU4%3E3.0.CO%3B2-4

10.1002/(SICI)1098-1004(199911)14:5<387::AID-HUMU4>3.0.CO;2-4

21 January 2018

Identifiers

DOI

0 references

1 reference