136 related articles for article (PubMed ID: 38192234)
1. Nonsense suppression induces read-through of a novel BMPR1A variant in a Chinese family with hereditary colorectal cancer.
Wang Z; Shi J; Tao D; Xie S; Yang Y; Liu Y
Ann Hum Genet; 2024 Jul; 88(4):300-306. PubMed ID: 38192234
[TBL] [Abstract][Full Text] [Related]
2. A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report.
Niu Y; Huang S; Wang Z; Xu P; Wang L; Li J; Gao M; Gao X; Gao Y
BMC Med Genet; 2020 Oct; 21(1):211. PubMed ID: 33087052
[TBL] [Abstract][Full Text] [Related]
3. A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing.
Zhang Y; Lu G; Hu Q; Wang X; Li C; Mao Y; Cui M
Biochem Biophys Res Commun; 2014 May; 447(3):503-7. PubMed ID: 24735542
[TBL] [Abstract][Full Text] [Related]
4. Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report.
Liu Q; Liu M; Liu T; Yu Y
BMC Med Genet; 2020 Oct; 21(1):196. PubMed ID: 33032550
[TBL] [Abstract][Full Text] [Related]
5. Germline bone morphogenesis protein receptor 1A mutation causes colorectal tumorigenesis in hereditary mixed polyposis syndrome.
Cheah PY; Wong YH; Chau YP; Loi C; Lim KH; Lim JF; Koh PK; Eu KW
Am J Gastroenterol; 2009 Dec; 104(12):3027-33. PubMed ID: 19773747
[TBL] [Abstract][Full Text] [Related]
6. Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers.
Rosner G; Petel-Galil Y; Laish I; Levi Z; Kariv R; Strul H; Gilad O; Gluck N
Clin Transl Gastroenterol; 2022 Oct; 13(10):e00527. PubMed ID: 36049049
[TBL] [Abstract][Full Text] [Related]
7. Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.
Blatter R; Tschupp B; Aretz S; Bernstein I; Colas C; Evans DG; Genuardi M; Hes FJ; Hüneburg R; Järvinen H; Lalloo F; Moeslein G; Renkonen-Sinisalo L; Resta N; Spier I; Varvara D; Vasen H; Latchford AR; Heinimann K
Genet Med; 2020 Sep; 22(9):1524-1532. PubMed ID: 32398773
[TBL] [Abstract][Full Text] [Related]
8. A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene?
Chow E; Lipton L; Carvajal-Carmona LG; Arthur G; Bhathal P; Kaur G; Jaeger E; Woodford-Richens K; Howarth K; Tomlinson I; Macrae F
J Gastroenterol Hepatol; 2007 Dec; 22(12):2292-7. PubMed ID: 17573831
[TBL] [Abstract][Full Text] [Related]
9. A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.
Howe JR; Chinnathambi S; Calva D; Bair J; Pechman B; Salamon A; Tam B; Simon L
Cancer Genet Cytogenet; 2008 Feb; 181(1):52-4. PubMed ID: 18262054
[TBL] [Abstract][Full Text] [Related]
10. Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.
van Hattem WA; Brosens LA; de Leng WW; Morsink FH; Lens S; Carvalho R; Giardiello FM; Offerhaus GJ
Gut; 2008 May; 57(5):623-7. PubMed ID: 18178612
[TBL] [Abstract][Full Text] [Related]
11. Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
Rohlin A; Rambech E; Kvist A; Törngren T; Eiengård F; Lundstam U; Zagoras T; Gebre-Medhin S; Borg Å; Björk J; Nilbert M; Nordling M
Fam Cancer; 2017 Apr; 16(2):195-203. PubMed ID: 27696107
[TBL] [Abstract][Full Text] [Related]
12. Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A.
Lieberman S; Beeri R; Walsh T; Schechter M; Keret D; Half E; Gulsuner S; Tomer A; Jacob H; Cohen S; Basel-Salmon L; Mansur M; Berger R; Katz LH; Golomb E; Peretz T; Levy Z; Kedar I; King MC; Levy-Lahad E; Goldberg Y
Clin Transl Gastroenterol; 2019 Jul; 10(7):e00054. PubMed ID: 31259752
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing
MacFarland SP; Ebrahimzadeh JE; Zelley K; Begum L; Bass LM; Brand RE; Dudley B; Fishman DS; Ganzak A; Karloski E; Latham A; Llor X; Plon S; Riordan MK; Scollon SR; Stadler ZK; Syngal S; Ukaegbu C; Weiss JM; Yurgelun MB; Brodeur GM; Mamula P; Katona BW
Cancer Prev Res (Phila); 2021 Feb; 14(2):215-222. PubMed ID: 33097490
[TBL] [Abstract][Full Text] [Related]
14. Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.
Papadopulos ME; Plazzer JP; Macrae FA
Hered Cancer Clin Pract; 2023 Jul; 21(1):12. PubMed ID: 37400896
[TBL] [Abstract][Full Text] [Related]
15. The application of nonsense-mediated mRNA decay inhibition to the identification of breast cancer susceptibility genes.
Johnson JK; Waddell N; ; Chenevix-Trench G
BMC Cancer; 2012 Jun; 12():246. PubMed ID: 22703186
[TBL] [Abstract][Full Text] [Related]
16. A novel BMPR1A mutation affects mRNA splicing in juvenile polyposis syndrome.
Imagawa K; Morita A; Fukushima H; Tagawa M; Takada H
Pediatr Int; 2022 Jan; 64(1):e15041. PubMed ID: 34699658
[TBL] [Abstract][Full Text] [Related]
17. Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.
Zhang JX; Fu L; de Voer RM; Hahn MM; Jin P; Lv CX; Verwiel ET; Ligtenberg MJ; Hoogerbrugge N; Kuiper RP; Sheng JQ; Geurts van Kessel A
World J Gastroenterol; 2015 Apr; 21(14):4136-49. PubMed ID: 25892863
[TBL] [Abstract][Full Text] [Related]
18. Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function.
Cao X; Eu KW; Kumarasinghe MP; Li HH; Loi C; Cheah PY
J Med Genet; 2006 Mar; 43(3):e13. PubMed ID: 16525031
[TBL] [Abstract][Full Text] [Related]
19. Identification of coding exon 3 duplication in the BMPR1A gene in a patient with juvenile polyposis syndrome.
Yamaguchi J; Nagayama S; Chino A; Sakata A; Yamamoto N; Sato Y; Ashihara Y; Kita M; Nomura S; Ishikawa Y; Igarashi M; Ueno M; Arai M
Jpn J Clin Oncol; 2014 Oct; 44(10):1004-8. PubMed ID: 25129392
[TBL] [Abstract][Full Text] [Related]
20. Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis.
Wang D; Liang S; Zhang X; Dey SK; Li Y; Xu C; Yu Y; Li M; Zhao G; Zhang Z
Mol Genet Genomic Med; 2019 Jan; 7(1):e00505. PubMed ID: 30523670
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
