Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma - Test2 - elhamkhani - TriplyDB

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma

http://www.wikidata.org/entity/Q24611398

about

RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.Genetic perspective of retinoblastoma: From present to future Risk definition and management strategies in retinoblastoma: current perspectives APC/C and retinoblastoma interaction: cross-talk of retinoblastoma protein with the ubiquitin proteasome pathway KIF14 is a candidate oncogene in the 1q minimal region of genomic gain in multiple cancers The Olivieri debacle: where were the heroes of bioethics?A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers Risk of cataract extraction among adult retinoblastoma survivors.Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling Analysis of retinoblastoma age incidence data using a fully stochastic cancer model.Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene.Enhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semiconductor sequencing.Regulation of p14ARF expression by miR-24: a potential mechanism compromising the p53 response during retinoblastoma development.RB1 gene mutations in retinoblastoma and its clinical correlation MSEA: detection and quantification of mutation hotspots through mutation set enrichment analysis Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.Disorders caused by chromosome abnormalities.Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features.Medical radiation exposure and risk of retinoblastoma resulting from new germline RB1 mutation.Defining a 0.5-mb region of genomic gain on chromosome 6p22 in bladder cancer by quantitative-multiplex polymerase chain reaction Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma.Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.Retinoblastoma genetics in India: From research to implementation.Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.Variation of second cancer risk by family history of retinoblastoma among long-term survivors.The RB protein family in retinal development and retinoblastoma: new insights from new mouse models.Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma.Genetics of primary intraocular tumors De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm Hereditary cancer predisposition in children: genetic basis and clinical implications.Parental nutrient intake and risk of retinoblastoma resulting from new germline RB1 mutation Inherited cancer susceptibility syndromes in paediatric practice.Low-penetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras The functional loss of the retinoblastoma tumour suppressor is a common event in basal-like and luminal B breast carcinomas "Retinoblastoma survival disparity": The expanding horizon in developing countries.Prediction and analysis of retinoblastoma related genes through gene ontology and KEGG.Molecular analysis distinguishes metastatic disease from second cancers in patients with retinoblastoma Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis.Insights from mouse models into human retinoblastoma

P2860

Q24813953-03911D43-6B86-4DC2-B549-BA4E4A012F01 Q26744430-4F5EE36F-45E1-4271-9C11-3B1FA36F1614 Q26849675-6FC0F4DC-381A-4CC8-AF86-CB067EF88C88 Q28072560-62728AA9-51AD-432B-95D9-C540FED46E34 Q28251179-A11DE879-D6FA-4766-8646-5F11A94B9EA2 Q28764079-D24B9BB5-2663-4BC7-A531-1FF39563414A Q30252766-37B32C48-236F-4876-B6A5-755B3B1894F4 Q30416965-FF9CC32E-9C0C-40B7-97CA-55B381E0E176 Q33638053-E0EB8852-9F1A-4049-A07A-FB555579532C Q33757922-D7DBA7F8-1DCB-4326-A7CC-5712C338B05D Q33841136-77C70A16-4174-4002-A828-4FE86CF41108 Q33913068-E1296641-8B84-4AF6-955C-8DCB1ADE8CF6 Q33956073-6ADF6AE6-AB3B-49C3-AB62-2DF548C148F2 Q34159585-F6310A3B-0010-4C75-985E-0F62C98A00E0 Q34365244-F327622F-3F43-40C2-B211-1C14DBA5A8B9 Q34484638-32DC2050-8F61-4718-B785-D913B63035D8 Q34734030-7AF8C7EF-2A03-4009-9964-D7731EB8B71E Q34775497-5DD79B08-2D82-4FFC-B333-18EC16F44A91 Q34988947-247E5635-711A-48EF-A54C-82891CC125AD Q35071315-F5C45853-5172-4625-BE56-9F97CF3E8978 Q35083274-A933E3D7-6912-458A-B4AA-9961958B21A8 Q35556170-771C573E-3277-4E60-9940-ECE31305623E Q35648428-9D2837CE-F1E3-428D-A58E-9C564A41FFFB Q35663105-E791B53F-5A60-46E1-A3A1-63A82C65328D Q35830949-EFAECBA4-09B4-406D-B4A7-A88A0635A326 Q35925143-91A68CD8-1D65-4A2F-92C1-3B817FDF9EF9 Q36108537-75844892-80BC-4377-A114-8938B37EE48A Q36161611-8235F251-CC95-496C-8B33-8F0A7BDD3117 Q36216850-BA5446DD-432C-47DC-9B46-AD9643F3F9C2 Q36279051-BCE634DA-7BEC-4BD1-8F37-A4554054FF47 Q36461758-C47C1C7D-EBFA-4A6B-A77B-539A6BB8402F Q36569295-E3020000-559B-4CF4-A98D-7E59A0A31B40 Q36795792-E77481BC-AFD5-4798-BFE3-82C2E450BE26 Q36925501-30E72735-10EE-4A9A-BE04-C55BF33B711B Q37038629-6204335E-F489-4592-AA4C-58540E90CF4D Q37060541-D9FEB1DC-52AE-4ED2-AE73-08CB4BB1B6B5 Q37127244-33A96A74-55F8-4EE9-871F-F45FBCF291F6 Q37146786-791B6252-8813-4F39-BD4E-D23346B897B7 Q37165120-6A0841AB-8509-4AEA-A38C-F4F694FF0361 Q37167727-47C2D8FB-899C-4974-9D35-3AA93AF5EA0C

P2860

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma

http://www.wikidata.org/entity/Q24611398

description

2003 nî lūn-bûn

@nan

2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2003年の論文

@ja

2003年論文

@yue

2003年論文

@zh-hant

2003年論文

@zh-hk

2003年論文

@zh-mo

2003年論文

@zh-tw

2003年论文

@wuu

name

Sensitive and efficient detect ...... r families with retinoblastoma

@ast

Sensitive and efficient detect ...... r families with retinoblastoma

@en

Sensitive and efficient detect ...... r families with retinoblastoma

@nl

type

label

Sensitive and efficient detect ...... r families with retinoblastoma

@ast

Sensitive and efficient detect ...... r families with retinoblastoma

@en

Sensitive and efficient detect ...... r families with retinoblastoma

@nl

prefLabel

Sensitive and efficient detect ...... r families with retinoblastoma

@ast

Sensitive and efficient detect ...... r families with retinoblastoma

@en

Sensitive and efficient detect ...... r families with retinoblastoma

@nl

P1433

Q24611398-04830E84-1FD0-4B1F-AA70-C8802F9F8F63

P1476

Q24611398-0D332CE4-55DB-4B06-BD48-998BB68B1F54

P2093

Q24611398-04C359BF-B804-41ED-8EA9-6308642E77F0

Q24611398-05FEA290-A2ED-4487-9750-4141F899C89B

Q24611398-1B5FB079-EB56-4B8E-9A81-49B9136861A5

Q24611398-211ED541-9024-4809-B68B-C38D1B73EC3C

Q24611398-37B6F2D8-D563-4AB7-995E-7489980CFD74

Q24611398-5C0F3439-0B86-4B6C-A3E4-897B0EE71FC7

Q24611398-7ADC3D35-0E71-4EAD-8940-E9C974F8C8A0

Q24611398-CF4104A8-3CCD-44BF-BE4A-6C769A8DC0A9

Q24611398-D71BD119-A4EA-4681-93AC-6EB80660A93D

P2860

Q24611398-04A2C083-D1DC-4886-8421-BF6C00374C84

Q24611398-04CC8B31-05E6-4759-8513-A2F71DEDCB30

Q24611398-05A03ADE-E13C-40A1-8CA3-3B515755298F

Q24611398-1002BC0C-2C49-4A79-B187-C362F6780496

Q24611398-153A92A8-7D65-4504-B77E-AED8957B3ED4

Q24611398-1A49833C-8CDC-4484-ACE7-76B22312E034

Q24611398-1ABC83E5-6C31-495D-A3C8-B2057883EA0C

Q24611398-25374F7F-C97C-415B-8DF8-D01A28B5F7CF

Q24611398-2E8F81C7-4792-4773-BD6E-8E378ED4FF8B

Q24611398-357CC5F5-C3FE-4B16-8AFC-F54DE7EAE413

P304

Q24611398-35667452-9EC3-4662-9353-DD9E4D4C17CF

P31

Q24611398-219BB910-3081-4460-8BCD-8618A07AC8F8

P3181

Q24611398-36463F50-1E3D-404B-BA9B-DC67DBEC5B08

P356

Q24611398-6E99B5F0-A37F-41BB-B0ED-358ED34F5BF4

P407

Q24611398-05ABFE6F-0CD4-43AB-951E-5825E5FF40F6

P433

Q24611398-AD6A33B8-CEE7-47ED-9151-B6044493DE28

P478

Q24611398-1E7A526D-DEFB-46A4-91B4-C180E692F548

P50

Q24611398-EE85FF3F-8D16-4B69-8A51-CCD4CF302A7E

P577

Q24611398-988BE407-3E3A-4B32-928D-16F529581557

P5875

Q24611398-AD7726B1-64D3-4A8E-BED3-994F3CF6865E

P698

Q24611398-444EFBCC-92D0-4181-906A-A0C4128BC303

P921

Q24611398-5732F79D-9754-4A98-BAC3-B5AEAB8C9445

P932

Q24611398-0B0747A1-92F4-4314-8868-2554818BCE98

P3181

P356

P1433

American Journal of Human Genetics

P1476

Sensitive and efficient detect ...... r families with retinoblastoma

@en

P2093

Joanne Sutherland

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

Julie Anderson

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

Katherine Zhang

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

Kirk Vandezande

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

Liping Han

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

Ning Chen

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

Patricia Branco

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

Rachel Panton

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

Suzanne Richter

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

P2860

Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

Structure of the retinoblastoma tumour-suppressor pocket domain bound to a peptide from HPV E7

Genomic amplification in retinoblastoma narrowed to 0.6 megabase on chromosome 6p containing a kinesin-like gene, RBKIN

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

A perfect message: RNA surveillance and nonsense-mediated decay

The human papilloma virus-16 E7 oncoprotein is able to bind to the retinoblastoma gene product

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

Nonsense-mediated mRNA decay in health and disease

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype

P304

253-69

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

P31

scholarly article

P3181

1924166

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

P356

10.1086/345651

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

P407

P433

2

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

P478

72

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

P50

Brenda L. Gallie

P577

2003-02-01T00:00:00Z

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

P5875

8544740

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

P698

12541220

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

P921

P932

379221

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