About: Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease

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About: Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease Goto Sponge NotDistinct Permalink

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scientific article published on 01 September 1997

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rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована у вересні 1997 (uk) im September 1997 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en setiembre de 1997 (ast) scientific article published on 01 September 1997 (en)
publication date	wds:Q73672434-C4DB8CB8-78BD-421B-B394-D448A5B180A9
publication date	1997-09-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q73672434-2242EA71-9C60-4824-B7AE-569D3D262F0C wds:Q73672434-2C9FA35F-31CF-460C-B4AF-791F40E184CE wds:Q73672434-30BAEB97-454E-4983-B642-5B33E0ECFF51 wds:Q73672434-68B22C0F-2A8E-4909-8D61-704C69B7E0FD wds:Q73672434-79E5EB85-0888-4DAD-9F66-1B447A064A0E wds:Q73672434-C705AC52-01B7-4D18-80BA-26CB07546A11 wds:Q73672434-DA3E7E1A-03AA-4BF1-8150-C9746E2423FE wds:Q73672434-ED1AF3EE-CBC6-4614-8939-9A75A1CA4959
author name string	M T Geraghty R Parsons K Clarke V A McKusick B K Goodman D Liaw E M Arch R A Van Wesep
rdfs:label	Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease (en) Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease (nl)
skos:prefLabel	Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease (en) Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease (nl)
name	Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease (en) Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease (nl)
title	wds:Q73672434-F5F80DFD-800A-4010-ACFE-A907D1022AD1
title	Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease (en)
page(s)	wds:Q73672434-50FE4740-C268-4C38-B066-0AAF1965CDE0
page(s)	489-493
instance of	wds:Q73672434-77CD5F24-8788-4DFA-818B-BA9198A48B7B
instance of	scholarly article
main subject	wds:Q73672434-BCC0E44A-510C-4B5C-BDEF-A9C111B1A369
main subject	Bannayan-Riley-Ruvalcaba syndrome
PubMed ID	wds:Q73672434-0E5B31FA-45D0-4A0E-83B0-D627D0D06625
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/9286463
PubMed ID	9286463
published in	wds:Q73672434-1802AA3D-A91D-4237-8122-99AA359447FB
published in	American Journal of Medical Genetics Part A
issue	wds:Q73672434-C9AC9F20-A760-4C33-BBF2-4301ED533994
volume	wds:Q73672434-06C47B07-DB88-4757-9370-62C52C7A95AD
issue	4
volume	71
DOI	wds:Q73672434-A70F0210-D7B3-49B5-86B7-6E160AEFDCC2
DOI	http://dx.doi.org/10.1002/(SICI)1096-8628(19970905)71:4%3C489::AID-AJMG24%3E3.0.CO;2-B
DOI	10.1002/(SICI)1096-8628(19970905)71:4<489::AID-AJMG24>3.0.CO;2-B
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q73672434
is cites work of	Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes PTENless means more. The akt kinase: molecular determinants of oncogenicity Protean PTEN: form and function The Egr-1 transcription factor directly activates PTEN during irradiation-induced signalling PTEN: one gene, many syndromes Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders Molecular dimensions of gastrointestinal tumors: Some thoughts for digestion 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 An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. Identification and characterization of pleckstrin-homology-domain-dependent and isoenzyme-specific Akt inhibitors Molecular pathways: intercellular PTEN and the potential of PTEN restoration therapy Inherited macrocephaly-hamartoma syndromes. Mutation of Pten/Mmac1 in mice causes neoplasia in multiple organ systems Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities Analysis of genetic and phenotypic heterogeneity in juvenile polyposis Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23 Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters A conserved PTEN/FOXO pathway regulates neuronal morphology during C. elegans development PTEN function: the long and the short of it. Constipation, polyps, or cancer? let PTEN predict your future An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing Skin disorders and thyroid diseases Genetic pathways of colorectal carcinogenesis rarely involve the PTEN and LKB1 genes outside the inherited hamartoma syndromes Hamartomatous polyposis syndromes Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype Genetic mutations involved in melanoma: a summary of our current understanding Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay. Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia Testicular lipomatosis in Cowden's syndrome Absence of PTEN/MMAC1 gene mutations in lung adenocarcinomas induced by N-nitrosobis(2-hydroxypropyl)amine in rats Lack of chromosome 15q11-q13 region involvement in a family with Cowden disease/Bannayan-Zonana syndrome Polymorphisms in PTEN in breast cancer families Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel. Hereditary hamartomatous polyposis syndromes: understanding the disease risks as children reach adulthood Aggressive juvenile polyposis in children with chromosome 10q23 deletion A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome. Overlap of Juvenile polyposis syndrome and Cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: implications for treatment and surveillance. Bannayan-Riley-Ruvalcaba Syndrome PTEN and NEDD4 in Human Breast Carcinoma Bannayan-Riley-Ruvalcaba syndrome: report of a family
is cites work of	wds:Q28205777-61634625-65D6-4584-BF1F-05217D6EE4D8 wds:Q36758478-FD4A8904-3A4B-4D7B-A737-0B84F426E692

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