(Q33680852)

28 July 2017

A survey of phenotypic features in juvenile polyposis (English)

1 reference

28 July 2017

1 reference

Desai DC

1

1 reference

28 July 2017

Murday V

2

1 reference

28 July 2017

Phillips RK

3

1 reference

28 July 2017

Neale KF

4

1 reference

28 July 2017

Milla P

5

1 reference

28 July 2017

Hodgson SV

6

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28 July 2017

language of work or name

English

0 references

publication date

1 June 1998

1 reference

Journal of Medical Genetics

28 July 2017

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28 July 2017

35

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28 July 2017

476-481

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28 July 2017

6

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Del(10)(q22.3q24.1) associated with juvenile polyposis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Human homolog of patched, a candidate gene for the basal cell nevus syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Hereditary hemorrhagic telangiectasia associated with multiple pulmonary arteriovenous malformations and juvenile polyposis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Intrapulmonary shunts: coils to transplantation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Basal cell carcinoma in a patient with intestinal polyposis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Diffuse juvenile polyposis of the colon: a premalignant condition?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Familial juvenile polyposis coli; increased risk of colorectal cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Polyposis syndromes--an update

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Colorectal neoplasia in juvenile polyposis or juvenile polyps

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Location of gene for Gorlin syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

A juvenile polyposis tumor suppressor locus at 10q22 is deleted from nonepithelial cells in the lamina propria.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

[The syndrome of juvenile polyposis]

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Exclusion of APC and MCC as the gene defect in one family with familial juvenile polyposis.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Hereditary generalized juvenile polyposis: association with arteriovenous malformations and risk of malignancy.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051342

Ruvalcaba-Myhre-Smith syndrome: a new consideration in the differential diagnosis of intestinal polyposis

30 October 2018

1 reference

12 December 2020

Bannayan-Riley-Ruvalcaba syndrome

1 reference

12 December 2020

Gastrointestinal manifestations of Cowden's disease. Report of four cases

1 reference

12 December 2020

A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3

1 reference

12 December 2020

Familial juvenile colonic polyposis with associated colon cancer

1 reference

12 December 2020

Nevoid basal cell carcinoma syndrome

1 reference

12 December 2020

Malignant potential in intestinal juvenile polyposis syndromes

1 reference

12 December 2020

Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.6.476

1 reference

28 July 2017

1 reference

28 July 2017

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