(Q57569990)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15951966%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

title

Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH (English)

1 reference

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12 January 2020

2

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12 January 2020

Ian M Frayling

4

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12 January 2020

John A.L. Armour

7

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12 January 2020

author name string

Seyed Mohammad Akrami

1

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12 January 2020

Fiona MacDonald

5

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12 January 2020

Susan M Farrington

3

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12 January 2020

John F Harvey

6

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12 January 2020

publication date

1 January 2005

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12 January 2020

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12 January 2020

volume

4

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12 January 2020

issue

2

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12 January 2020

page(s)

145-149

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https://scigraph.springernature.com/pub.10.1007/s10689-004-6131-3

12 January 2020

exact match

0 references

cites work

MSH2 genomic deletions are a frequent cause of HNPCC

1 reference

12 December 2020

Measurement of locus copy number by hybridisation with amplifiable probes

1 reference

12 December 2020

Genetic instability occurs in the majority of young patients with colorectal cancer

1 reference

12 December 2020

Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments

1 reference

12 December 2020

Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques

1 reference

12 December 2020

High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH)

1 reference

12 December 2020

Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach

1 reference

12 December 2020

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome

1 reference

12 December 2020

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

1 reference

12 December 2020

Genetic susceptibility to non-polyposis colorectal cancer

1 reference

12 December 2020

Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome

1 reference

12 December 2020

A 10-Mb paracentric inversion of chromosome arm 2p inactivatesMSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred

1 reference

12 December 2020

Diagnosis of gene dosage alterations at the PMP22 gene using MAPH.

1 reference

12 December 2020

Detection of a large TBX5 deletion in a family with Holt-Oram syndrome

1 reference

12 December 2020

10.1007/S10689-004-6131-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15951966%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference