(Q35764984)

10 August 2017

0 references

Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot (English)

1 reference

10 August 2017

1 reference

10

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10 August 2017

James R Howe

1

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Christopher Amos

8

object named as

Christopher I Amos

1 reference

10 August 2017

Jason Shellnut

2

1 reference

10 August 2017

Brian Wagner

3

1 reference

10 August 2017

John C Ringold

4

1 reference

10 August 2017

Mohamed G Sayed

5

1 reference

10 August 2017

Abul F Ahmed

6

1 reference

10 August 2017

Patrick M Lynch

7

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10 August 2017

Pertti Sistonen

9

1 reference

10 August 2017

language of work or name

English

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publication date

27 March 2002

1 reference

American Journal of Human Genetics

10 August 2017

published in

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10 August 2017

volume

70

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10 August 2017

issue

5

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10 August 2017

page(s)

1357-1362

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Initial sequencing and analysis of the human genome

10 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

The Sequence of the Human Genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

Mitochondrial genome variation and the origin of modern humans

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

A gene for familial juvenile polyposis maps to chromosome 18q21.1.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

Familial juvenile polyposis: patterns of recurrence and implications for surgical management

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

Juvenile gastrointestinal polyposis in a female infant: report of a case and review of the literature of a recently recognized syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

A simple salting out procedure for extracting DNA from human nucleated cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

Mutations in the SMAD4/DPC4 gene in juvenile polyposis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=447611

Familial juvenile polyposis. Study of a kindred: evolution of polyps and relationship to gastrointestinal carcinoma

12 July 2018

1 reference

12 December 2020

Homozygous deletion map at 18q21.1 in pancreatic cancer

1 reference

12 December 2020

The risk of gastrointestinal carcinoma in familial juvenile polyposis

1 reference

12 December 2020

Experimentally observed germline mutations at human micro- and minisatellite loci

1 reference

12 December 2020

Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients

1 reference

12 December 2020

SMAD genes in juvenile polyposis

1 reference

12 December 2020

Polyps of the rectum and colon in children

1 reference

12 December 2020

JUVENILE POLYPOSIS COLI

1 reference

12 December 2020

Juvenile polyposis and gastrointestinal carcinoma. A study of a kindred

1 reference

12 December 2020

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

12 December 2020

[Familial juvenile polyposis with predominant stomach involvement]

1 reference

12 December 2020

Haplotype analysis of MEN 2 mutations

1 reference

12 December 2020

Identifiers

DOI

10.1086/340258

1 reference

10 August 2017

1 reference

10 August 2017

1 reference