Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes (Q34658313)

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English	Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes	scientific article

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3 August 2017

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Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes (English)

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3 August 2017

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Dominique Stoppa-Lyonnet

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Dominique Stoppa-Lyonnet

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Stanislas Lyonnet

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Stanislas Lyonnet

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Serge Romana

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Damien Sanlaville

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Damien Sanlaville

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Charis Eng

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Claude Houdayer

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Claude Houdayer

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3 August 2017

Michel Vekemans

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Michel Vekemans

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3 August 2017

Jean-Pierre Fryns

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Jean-Pierre Fryns

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3 August 2017

Capucine Delnatte

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Capucine Delnatte

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3 August 2017

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Jean-Francois Mougenot

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3 August 2017

Joris-Robert Vermeesch

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3 August 2017

Marie-Christine de Blois

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3 August 2017

David Genevieve

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3 August 2017

Olivier Goulet

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Francis Jaubert

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14 April 2006

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3 August 2017

American Journal of Human Genetics

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3 August 2017

78

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3 August 2017

6

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3 August 2017

1066-1074

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Europe PubMed Central

PubMed publication ID

3 August 2017

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

1 reference

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7 July 2018

Mutations in ZASP define a novel form of muscular dystrophy in humans

1 reference

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7 July 2018

Pathological situations characterized by altered actin isoform expression

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Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene

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7 July 2018

Genetic conditions associated with intestinal juvenile polyps

1 reference

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7 July 2018

The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 July 2018

Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome

1 reference

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7 July 2018

A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.

1 reference

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7 July 2018

PTEN: one gene, many syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 July 2018

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 July 2018

Smooth muscle alpha-actin gene requires two E-boxes for proper expression in vivo and is a target of class I basic helix-loop-helix proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 July 2018

PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 July 2018

Protean PTEN: form and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 July 2018

Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas.

1 reference

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7 July 2018

Structures of bovine glutamate dehydrogenase complexes elucidate the mechanism of purine regulation

1 reference

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7 July 2018

Targeted deletion of Minpp1 provides new insight into the activity of multiple inositol polyphosphate phosphatase in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 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=1474102

7 July 2018

Multiple inositol polyphosphate phosphatase: evolution as a distinct group within the histidine phosphatase family and chromosomal localization of the human and mouse genes to chromosomes 10q23 and 19

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 July 2018

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse

1 reference

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7 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=1474102

7 July 2018

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 July 2018

Human smooth muscle alpha-actin gene is a transcriptional target of the p53 tumor suppressor protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 July 2018

HiPER1, a phosphatase of the endoplasmic reticulum with a role in chondrocyte maturation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 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=1474102

7 July 2018

Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 July 2018

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 July 2018

Contiguous gene syndromes: a component of recognizable syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

7 July 2018

Hereditary polypoid diseases of the gastrointestinal tract: a working classification

1 reference

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7 July 2018

BMP signaling inhibits intestinal stem cell self-renewal through suppression of Wnt-beta-catenin signaling

1 reference

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26 October 2018

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1 reference

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26 October 2018

Overlapping, complementary and site-specific expression pattern of genes of the EMILIN/Multimerin family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

26 October 2018

BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1474102

26 October 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=1474102

26 October 2018

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

1 reference

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26 October 2018

Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic Polyposis

1 reference

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26 October 2018

PTEN mutations are common in sporadic microsatellite stable colorectal cancer

1 reference

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9 December 2018

Familial juvenile polyposis coli. A clinical and pathologic study of a large kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/16685657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Juvenile polyposis and gastrointestinal carcinoma. A study of a kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/16685657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Malignant potential in intestinal juvenile polyposis syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16685657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion ofPTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16685657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

JUVENILE POLYPOSIS COLI

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https://pubmed.ncbi.nlm.nih.gov/16685657

12 December 2020

based on heuristic

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Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers

1 reference

https://pubmed.ncbi.nlm.nih.gov/16685657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cowden's disease: clinical and molecular genetic findings in a patient with a novel PTEN germline mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16685657

12 December 2020

based on heuristic

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Gastrointestinal polyposis syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16685657

12 December 2020

based on heuristic

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