Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation - Test2 - elhamkhani - TriplyDB

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

http://www.wikidata.org/entity/Q28279755

about

Germline mutation of INI1/SMARCB1 in familial schwannomatosis Rapid detection of SMARCB1 sequence variation using high resolution melting.Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1 Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation Molecular markers in pediatric neuro-oncology.Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome.Molecular diagnostics in embryonal brain tumors.Malignant rhabdoid tumor mimicking hepatoblastoma: a case report and literature review.The role of SMARCB1/INI1 in development of rhabdoid tumor.The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.Hijacking the chromatin remodeling machinery: impact of SWI/SNF perturbations in cancer.Molecular diagnostics of CNS embryonal tumors.Loss of INI1 protein expression defines a subgroup of aggressive central nervous system primitive neuroectodermal tumors.Update on pediatric cancer predisposition syndromes.Schwannomas and their pathogenesis.Secondary meningioma in a long-term survivor of atypical teratoid/rhabdoid tumour with a germline INI1 mutation.Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel.Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas.Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS).A primary extradural malignant rhabdoid tumor at the craniovertebral junction in a 3-year-old boy.Impact of molecular biology studies on the understanding of brain tumors in childhood.Loss of expression of SMARCA4 (BRG1), SMARCA2 (BRM) and SMARCB1 (INI1) in undifferentiated carcinoma of the endometrium is not uncommon and is not always associated with rhabdoid morphology.Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor.

P2860

Q24682982-667AD388-0210-4B7C-9673-EB8D0DF9510D Q33517967-4B6BCCF5-80DE-405C-9746-BF349C7B6212 Q33645991-73E40765-5800-4E7C-9633-E5E8C28746FD Q33744341-8D0ED15E-380F-4F0A-8F3F-C53896289CAB Q34915348-97B718B7-9E28-409F-BE21-E98B7C80C4F2 Q35535207-12A76A7C-8245-4E9E-B7D7-55F10496E379 Q35621426-538661AB-4479-4953-9E51-2DA8B7296D9D Q36344704-4D1E0E8F-33A8-4D2A-B841-0E90055B4098 Q36614782-66214A82-7582-495D-A92C-4E8717BAE73F Q36619093-1DC75B68-4119-4344-860F-64B96051B6F7 Q36968019-61150AAF-7635-4FB7-957E-BED75465A935 Q37420245-CAA331D8-A415-4CA6-A4D6-CF01C4813C6F Q37601480-4F16135F-E546-418D-B17F-20D985A80FAD Q37618471-71AED217-1A52-4FDE-9421-AE937364A0ED Q37794829-2CB14A5B-CA82-49A1-9C13-907BCEADFB96 Q38016579-ED97B4C4-847B-4B64-B54A-0610AFE9B8CE Q38102639-22C4846D-B290-4AC0-AC5A-6CFF28FFB82C Q38180808-D0C9E3A9-A5A5-4127-8383-486A9FB432E3 Q38846896-3D2961AE-EACD-42CE-A934-EC93C6A1BC8B Q41904124-F8534BD8-09C2-4655-BAC9-8BFF82DF0368 Q42013225-35E4F103-ABC8-44A3-A8DB-0925440F3BDC Q42020615-BA8FFC56-FD19-474A-95CC-BA06F7D73F78 Q45382547-08BECC9D-F55D-4E9B-8F13-A3B8C8F04339 Q47994153-95E4FD21-040B-44DC-A878-328624129FCC Q48716816-86B43012-03AD-430B-ADBD-C6B74FCC3164 Q50145215-B36A6AE6-C6E3-4E60-BCFF-A9F11DC11692 Q54455194-8A846346-A496-4C2D-ABB7-4ED994BADF9E

P2860

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

http://www.wikidata.org/entity/Q28279755

description

2006 nî lūn-bûn

@nan

2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

2006年の論文

@ja

2006年論文

@yue

2006年論文

@zh-hant

2006年論文

@zh-hk

2006年論文

@zh-mo

2006年論文

@zh-tw

2006年论文

@wuu

name

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

@ast

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

@en

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

@nl

type

label

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

@ast

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

@en

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

@nl

prefLabel

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

@ast

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

@en

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

@nl

P1433

Q28279755-EF864993-BEDD-45B1-8D77-FC36956BEB3A

P1476

Q28279755-71CDCA20-71DC-4FC6-BD86-6B4FAFCBA487

P2093

Q28279755-10FBB8FD-C09A-44BF-85B3-068F5E4963B4

Q28279755-11B73D7B-DDFE-4AB8-853A-82E377B02B5F

Q28279755-1CA6E0ED-BF87-48D4-A4F7-CE27BC0D853B

Q28279755-21791553-8483-4A3E-A495-DA6252233814

Q28279755-684C3F3A-A05F-4DB8-BE6E-BA89048DC32D

Q28279755-8A5D5F64-F0A4-49F7-A7FB-F00AB74DC8CA

Q28279755-8E2285F3-03F3-4BFF-A2F4-F7964C2260CD

Q28279755-949C235A-A50E-4C00-AEE6-F8D20A6742AC

Q28279755-CB45C235-F6F9-4F42-84BC-628F563E2BF7

Q28279755-EFCD56E9-CF2A-4C75-9FBB-C297ED6582A3

P2860

Q28279755-48CD0021-C896-4A13-BA2C-AB142048D16E

Q28279755-E5B68025-DC2D-4D52-B208-99D81DAEDCFC

P304

Q28279755-C55E81A2-5F67-4D85-A65A-C0CA6B0B6AC3

P31

Q28279755-B0F7EB37-49DC-46D2-98DE-DDFB3F3C2209

P356

Q28279755-97E8BAA4-C107-4B7A-91F3-1F7158B46E63

P407

Q28279755-749662BD-A246-499B-961D-BF87E94E7829

P433

Q28279755-81B08819-BCB2-480D-8B0A-20E1030764AA

P478

Q28279755-F119A3A0-BCC3-45A6-826E-4CE810CA9B61

P577

Q28279755-A043B3CA-D81A-462C-85FC-B7475F5A4140

P698

Q28279755-318845C8-F77D-4E99-A668-8B778080C620

P356

P1433

Pediatric Blood & Cancer

P1476

Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation

@en

P2093

Alexander R Judkins

http://www.w3.org/2001/XMLSchema#string

Gabriella Pridjian

http://www.w3.org/2001/XMLSchema#string

Jaclyn A Biegel

http://www.w3.org/2001/XMLSchema#string

John W Walsh

http://www.w3.org/2001/XMLSchema#string

Kristin Janson

http://www.w3.org/2001/XMLSchema#string

Lu Tan

http://www.w3.org/2001/XMLSchema#string

Lucien A Nedzi

http://www.w3.org/2001/XMLSchema#string

Marshall Schorin

http://www.w3.org/2001/XMLSchema#string

Meena Bhattacharjee

http://www.w3.org/2001/XMLSchema#string

Odile David

http://www.w3.org/2001/XMLSchema#string

P2860

The SWI/SNF complex--chromatin and cancer.

Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms.

P304

279-84

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/PBC.20622

http://www.w3.org/2001/XMLSchema#string

P407

P433

3

http://www.w3.org/2001/XMLSchema#string

P478

47

http://www.w3.org/2001/XMLSchema#string

P577

2006-09-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

16261613

http://www.w3.org/2001/XMLSchema#string