High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome
about
Hamartomatous polyposis syndromes: a reviewJuvenile polyposis syndromeHamartomatous polyposis syndromesHamartomatous Tumors in the Gastrointestinal TractGenotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutationsGastrointestinal tract cancers: Genetics, heritability and germ line mutationsSMAD4 immunohistochemistry reflects genetic status in juvenile polyposis syndrome.The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes.Histologic variations in juvenile polyp phenotype correlate with genetic defect underlying juvenile polyposisAppreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.Rapid analysis of Saccharomyces cerevisiae genome rearrangements by multiplex ligation-dependent probe amplification.Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis.10 rare tumors that warrant a genetics referral.Discovery of SMAD4 promoters, transcription factor binding sites and deletions in juvenile polyposis patients.Upper tract juvenile polyps in juvenile polyposis patients: dysplasia and malignancy are associated with foveolar, intestinal, and pyloric differentiation.Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23Development and progression of colorectal neoplasia.Diagnostic Approach to Hereditary Colorectal Cancer Syndromes.Familial Gastric Cancers.ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromesIncreased cyclooxygenase-2 expression in juvenile polyposis syndrome.A novel germline mutation in exon 10 of the SMAD4 gene in a familial juvenile polyposis.An overview of mutation detection methods in genetic disorders.Germline copy number variations and cancer predisposition.Hereditary colorectal cancer syndromes and genetic testing.A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Familial colorectal cancer.Pathology and Genetics of Syndromic Gastric Polyps.Syndromic Gastric Polyps: At the Crossroads of Genetic and Environmental Cancer Predisposition.Aggressive juvenile polyposis in children with chromosome 10q23 deletion.Massive gastric juvenile-type polyposis: a clinicopathological analysis of 22 cases.Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation.The prevalence of hereditary hemorrhagic telangiectasia in Juvenile Polyposis syndrome patients with SMAD4 mutations.Prophylactic total gastrectomy in the management of hereditary tumor syndromes.Esophageal adenocarcinoma presenting as pseudo-achalasia in a patient with juvenile polyposis syndrome: an enemy out of the blue.JP-HHT phenotype in Danish patients with SMAD4 mutations.A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome.Massive Gastric Juvenile Polyposis: A Clinicopathologic Study Using SMAD4 Immunohistochemistry.Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4.
P2860
Q21202845-CEFD5C92-63AB-48D9-9FF7-BEA79C0EE9EFQ24629831-BCCD0407-7A55-4670-A6EC-A2A7A5DD841CQ24654006-C9BCCDFB-6DC2-48EC-AF35-CE81EC5C7585Q26775636-E22B0D70-585D-48EF-A4D9-F6EF78DBFE72Q28265767-E69C5D07-B951-4B77-83B7-502948AA10A4Q33599436-103DC135-27D0-4D71-8A8F-A3F8230E4035Q33648691-A322FA6C-DDC2-4FC3-B5D6-9A0F2BE62C38Q33760627-D14CAF7A-4EB6-4968-9319-1BF6C93D5C48Q33848863-B070232F-FAE8-48AE-BD02-7ED6121625E2Q34017179-A794140B-FD69-4BC7-8017-4DDF139FC9C7Q34187018-AB42C34A-B928-4449-9722-B9E30D81909DQ34275682-7AFCACE1-CDF8-4F41-B4FF-018728C4F65BQ34325954-837E7E52-DB76-43E4-8EDE-787D27AEE58DQ35120737-4DC8210A-8ECF-4E81-9890-5E44041A1B9EQ35162919-BD41EE73-A00D-46D1-9615-B0B11190D838Q35610161-E845C87B-2FEA-46E3-9E4D-C23F7F36368CQ36241935-E84C4198-D53B-4B0E-B556-215FBCE07CE5Q36303429-BC2C4A25-F121-4FB0-B188-FCA1F12D09EDQ36371610-4B93C840-B061-4C14-95D2-C273221C4A76Q36416282-E04C459A-FD7E-4DD0-832D-C4C41521047BQ37232962-2FA2D5D4-1ED6-4B4D-9198-57EE5C5EB369Q37359401-7B280898-1A9A-4E67-B8AF-8DB3022B552AQ37443797-525696C7-0C38-4015-B709-E9C1C6245D15Q38003668-AE172733-3DE1-4082-8E64-DF517EE59C32Q38224227-51CB1D5C-B279-4B36-84B4-C5109EF6EAECQ38267932-311F8A9C-CBAE-4013-BD04-8002FC168C2EQ38467435-A6C8D427-EFA0-4C99-BC9B-FD6CF11AE3F7Q38684295-62C7BBA3-FC59-4FFB-894D-33CD79C5A61AQ38940549-81B5CAB8-AB95-4336-9E62-D2F51B9042C4Q39883895-56A8643B-C3BC-41CA-85D5-9925AB988A1FQ40418605-03CDB34F-6004-4D30-9057-615D8FBAFD7DQ40728997-FFB8F33D-19BD-4981-BB16-223F56B2AEDCQ46763950-DFB820BE-2D95-471F-ADA5-9F05B5C38A90Q47992469-888783E8-ACB6-4F1B-B963-67D850E0E8F9Q50283613-17C9BA4C-A1A3-4063-B1D5-E8B6ED3C2C9FQ50568923-CC78C04E-57A4-4997-801B-4718890B3018Q50784187-15E7E364-E613-4742-95F2-6FEE93593E16Q51087745-DE60BB0C-1F00-406B-A644-90993C500F76Q53107897-8A003701-2465-4756-9F64-0D48FC083A23Q53522731-840DAEAE-2686-443D-9775-539FB5C8C790
P2860
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome
description
2007 nî lūn-bûn
@nan
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
High proportion of large genom ...... th juvenile polyposis syndrome
@ast
High proportion of large genom ...... th juvenile polyposis syndrome
@en
High proportion of large genom ...... th juvenile polyposis syndrome
@nl
type
label
High proportion of large genom ...... th juvenile polyposis syndrome
@ast
High proportion of large genom ...... th juvenile polyposis syndrome
@en
High proportion of large genom ...... th juvenile polyposis syndrome
@nl
prefLabel
High proportion of large genom ...... th juvenile polyposis syndrome
@ast
High proportion of large genom ...... th juvenile polyposis syndrome
@en
High proportion of large genom ...... th juvenile polyposis syndrome
@nl
P2093
P2860
P356
P1476
High proportion of large genom ...... th juvenile polyposis syndrome
@en
P2093
A Kaufmann
E Holinski-Feder
K-M Keller
M M Entius
P Propping
P2860
P304
P356
10.1136/JMG.2007.052506
P407
P50
P577
2007-09-14T00:00:00Z