(Q34020502)

English

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes

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scholarly article

1 reference

Europe PubMed Central

30 July 2017

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes (English)

1 reference

Europe PubMed Central

30 July 2017

juvenile polyposis syndrome

1 reference

based on heuristic

inferred from title

11

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27

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30 July 2017

object named as

D Markie

20

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Malcolm G. Dunlop

object named as

M Dunlop

13

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object named as

C Eng

29

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Hannele Yki-Järvinen

16

object named as

H Järvinen

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Europe PubMed Central

30 July 2017

28

object named as

I P Tomlinson

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Europe PubMed Central

30 July 2017

Richard Houlston

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ORCID Public Data File 2021

K L Woodford-Richens

2

object named as

K Woodford-Richens

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Europe PubMed Central

30 July 2017

author name string

X P Zhou

1

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Europe PubMed Central

30 July 2017

R Lehtonen

3

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Europe PubMed Central

30 July 2017

K Kurose

4

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Europe PubMed Central

30 July 2017

M Aldred

5

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Europe PubMed Central

30 July 2017

H Hampel

6

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Europe PubMed Central

30 July 2017

V Launonen

7

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Europe PubMed Central

30 July 2017

S Virta

8

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Europe PubMed Central

30 July 2017

R Pilarski

9

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Europe PubMed Central

30 July 2017

R Salovaara

10

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30 July 2017

B A Conrad

12

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30 July 2017

S V Hodgson

14

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Europe PubMed Central

30 July 2017

T Iwama

15

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Europe PubMed Central

30 July 2017

I Kellokumpu

17

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30 July 2017

J C Kim

18

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30 July 2017

B Leggett

19

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30 July 2017

J P Mecklin

21

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30 July 2017

K Neale

22

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30 July 2017

R Phillips

23

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30 July 2017

J Piris

24

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30 July 2017

P Rozen

25

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30 July 2017

R S Houlston

26

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30 July 2017

language of work or name

0 references

publication date

30 August 2001

1 reference

Europe PubMed Central

30 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

30 July 2017

69

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30 July 2017

704-711

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30 July 2017

4

1 reference

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30 July 2017

Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

How cells read TGF-beta signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

Genetic testing for cancer predisposition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

Will the real Cowden syndrome please stand up: revised diagnostic criteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

Crystal structure of the BMP-2-BRIA ectodomain complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

Germline PTEN mutations in Cowden syndrome-like families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

Increased risk for cancer in patients with the Peutz-Jeghers syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

Landscaping the cancer terrain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

Mutations in the SMAD4/DPC4 gene in juvenile polyposis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

Germline mutations in PTEN are present in Bannayan-Zonana syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

28 July 2018

Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

29 October 2018

Absence of germline mutations in MINPP1, a phosphatase encoding gene centromeric of PTEN, in patients with Cowden and Bannayan-Riley-Ruvalcaba syndrome without germline PTEN mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

29 October 2018

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

29 October 2018

Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

29 October 2018

Deletion 10q23.2-q23.33 in a patient with gastrointestinal juvenile polyposis and other features of a Cowden-like syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

29 October 2018

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

29 October 2018

Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

29 October 2018

To be or not to BMP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

29 October 2018

Allelic loss at SMAD4 in polyps from juvenile polyposis patients and use of fluorescence in situ hybridization to demonstrate clonal origin of the epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

29 October 2018

Localization of the gene for Cowden disease to chromosome 10q22–23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226057

29 October 2018

Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11536076

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PTEN germ-line mutations in juvenile polyposis coli

1 reference

https://pubmed.ncbi.nlm.nih.gov/11536076

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11536076

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SMAD genes in juvenile polyposis

1 reference

https://pubmed.ncbi.nlm.nih.gov/11536076

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bannayan-Riley-Ruvalcaba syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/11536076

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

30 July 2017

release_wemjupe27zbzfaakeuk6f4qvnq

1 reference

https://api.fatcat.wiki/v0/release/wemjupe27zbzfaakeuk6f4qvnq

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

ResearchGate publication ID

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