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Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP)
Journal of Clinical Laboratory Analysis
◽
10.1002/jcla.23768
◽
2021
◽
Author(s):
Faranak Ghadamyari
◽
Mohammad Mehdi Heidari
◽
Sirous Zeinali
◽
Mehri Khatami
◽
Shahin Merat
◽
...
Keyword(s):
Familial Adenomatous Polyposis
◽
Bioinformatics Analysis
◽
Germline Mutations
◽
Apc Gene
◽
Adenomatous Polyposis
◽
Mutational Screening
Download Full-text
Related Documents
Cited By
References
Germline Mutations of the APC Gene in Patients with Familial Adenomatous Polyposis-Associated Thyroid Carcinoma: Results from a European Cooperative Study
The Journal of Clinical Endocrinology & Metabolism
◽
10.1210/jc.85.1.286
◽
2000
◽
Vol 85
(1)
◽
pp. 286-292
◽
Cited By ~ 63
Author(s):
F. Cetta
Keyword(s):
Familial Adenomatous Polyposis
◽
Thyroid Carcinoma
◽
Germline Mutations
◽
Apc Gene
◽
Adenomatous Polyposis
◽
Cooperative Study
Download Full-text
Mutational Screening of the APC Gene in Chilean Families with Familial Adenomatous Polyposis: Nine Novel Truncating Mutations
Diseases of the Colon & Rectum
◽
10.1007/s10350-007-9044-z
◽
2007
◽
Vol 50
(12)
◽
pp. 2142-2148
◽
Cited By ~ 6
Author(s):
Marjorie K. De la Fuente
◽
Karin P. Alvarez
◽
Alejandro J. Letelier
◽
Felipe Bellolio
◽
Mariana L. Acuña
◽
...
Keyword(s):
Familial Adenomatous Polyposis
◽
Apc Gene
◽
Adenomatous Polyposis
◽
Mutational Screening
Download Full-text
Germline mutations of the APC gene in Korean familial adenomatous polyposis patients
Journal of Human Genetics
◽
10.1007/s100380050118
◽
1999
◽
Vol 44
(2)
◽
pp. 103-108
◽
Cited By ~ 17
Author(s):
Yong-Jin Won
◽
Kyu Joo Park
◽
Hyuk-Joon Kwon
◽
J.-H. Lee
◽
J.-H. Kim
◽
...
Keyword(s):
Familial Adenomatous Polyposis
◽
Germline Mutations
◽
Apc Gene
◽
Adenomatous Polyposis
Download Full-text
Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis
BMC Medical Genomics
◽
10.1186/s12920-019-0553-0
◽
2019
◽
Vol 12
(1)
◽
Cited By ~ 2
Author(s):
Borahm Kim
◽
Dongju Won
◽
Mi Jang
◽
Hoguen Kim
◽
Jong Rak Choi
◽
...
Keyword(s):
Next Generation Sequencing
◽
Familial Adenomatous Polyposis
◽
Gene Mutation
◽
Mutation Detection
◽
Bioinformatics Analysis
◽
Apc Gene
◽
Adenomatous Polyposis
◽
Next Generation
◽
Generation Sequencing
Download Full-text
Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds
Human Genetics
◽
10.1007/s004390050560
◽
1997
◽
Vol 100
(5-6)
◽
pp. 601-605
◽
Cited By ~ 30
Author(s):
C. Walon
◽
Alex Kartheuser
◽
Geneviève Michils
◽
Michèle Smaers
◽
Nathalie Lannoy
◽
...
Keyword(s):
Familial Adenomatous Polyposis
◽
Germline Mutations
◽
Apc Gene
◽
Adenomatous Polyposis
◽
Phenotypic Spectrum
Download Full-text
Germline Mutations of the APC Gene in Patients with Familial Adenomatous Polyposis-Associated Thyroid Carcinoma: Results from a European Cooperative Study1
The Journal of Clinical Endocrinology & Metabolism
◽
10.1210/jcem.85.1.6254
◽
2000
◽
Vol 85
(1)
◽
pp. 286-292
◽
Cited By ~ 3
Author(s):
F. Cetta
◽
G. Montalto
◽
M. Gori
◽
M. C. Curia
◽
A. Cama
◽
...
Keyword(s):
Familial Adenomatous Polyposis
◽
Thyroid Carcinoma
◽
Germline Mutations
◽
Apc Gene
◽
Adenomatous Polyposis
Download Full-text
Detection of five novel germline mutations of the APC gene in Irish familial adenomatous polyposis families
Human Mutation
◽
10.1002/humu.1380110180
◽
1998
◽
Vol 11
(S1)
◽
pp. S251-S253
◽
Cited By ~ 2
Author(s):
Maureen J. O'Sullivan
◽
Tanya M. Mulcahy
◽
J. Cambell
◽
Christoir B. O'Suilleabhain
◽
William O. Kirwan
◽
...
Keyword(s):
Familial Adenomatous Polyposis
◽
Germline Mutations
◽
Apc Gene
◽
Adenomatous Polyposis
Download Full-text
Two Czech patients with familial adenomatous polyposis presenting mosaicism in APC gene
Neoplasma
◽
10.4149/neo_2018_180731n559
◽
2019
◽
Vol 66
(02)
◽
pp. 294-300
Author(s):
M. Urbanova
◽
K. Hirschfeldova
◽
L. Obeidova
◽
B. Janosikova
◽
J. Lastuvkova
◽
...
Keyword(s):
Familial Adenomatous Polyposis
◽
Apc Gene
◽
Adenomatous Polyposis
Download Full-text
A Novel Germline Mutation in Exon 15 of the APC Gene in Attenuated Familial Adenomatous Polyposis: A Report of Two Cases
Gut and Liver
◽
10.5009/gnl.2013.7.1.120
◽
2013
◽
Vol 7
(1)
◽
pp. 120-125
◽
Cited By ~ 4
Author(s):
Jaehoon Jahng
◽
Sang Jin Yoon
◽
Hyojin Park
Keyword(s):
Familial Adenomatous Polyposis
◽
Germline Mutation
◽
Apc Gene
◽
Adenomatous Polyposis
◽
Attenuated Familial Adenomatous Polyposis
Download Full-text
APC Gene in Familial Adenomatous Polyposis
Encyclopedia of Cancer
◽
10.1007/978-3-662-46875-3_349
◽
2015
◽
pp. 319-321
Author(s):
Riccardo Fodde
Keyword(s):
Familial Adenomatous Polyposis
◽
Apc Gene
◽
Adenomatous Polyposis
Download Full-text
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