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Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.
BMC Med Genet. 2018 May 2;19(1):66. doi: 10.1186/s12881-018-0594-9.
BMC Med Genet. 2018.
PMID: 29720104
Free PMC article.
BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a hereditary cancer predisposing syndrome caused by autosomal dominant mutations in the serine/threonine kinase 11 (STK11) gene and is associated with decreased life expectancy. ...
BACKGROUND: Peutz-Jeghers Syndrome (PJS) is a hereditary cancer predisposing syndrome caused by autosomal domina …
From Genetics to Histomolecular Characterization: An Insight into Colorectal Carcinogenesis in Lynch Syndrome.
Lepore Signorile M, Disciglio V, Di Carlo G, Pisani A, Simone C, Ingravallo G.
Lepore Signorile M, et al.
Int J Mol Sci. 2021 Jun 23;22(13):6767. doi: 10.3390/ijms22136767.
Int J Mol Sci. 2021.
PMID: 34201893
Free PMC article.
Review.
Lynch syndrome is a hereditary cancer-predisposing syndrome caused by germline defects in DNA mismatch repair (MMR) genes such as MLH1, MSH2, MSH6, and PMS2. ...
Lynch syndrome is a hereditary cancer-predisposing syndrome caused by germline defects in DNA mismatch repair (M …
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Challenging pedigrees seen in a hereditary cancer consultation center.
Lynch HT, Tinley ST, Lynch JF, Attard TM.
Lynch HT, et al.
Cancer Genet Cytogenet. 2004 Sep;153(2):91-101. doi: 10.1016/j.cancergencyto.2004.01.011.
Cancer Genet Cytogenet. 2004.
PMID: 15350297
Problems in interpretation of the significance of a cancer family history may arise due to a variety of factors, and even if the physician correctly diagnoses a hereditary cancer-predisposing syndrome there may still be barriers to patient compliance w …
Problems in interpretation of the significance of a cancer family history may arise due to a variety of factors, and even if the physician c …
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Assessment of structurally and functionally high-risk nsSNPs impacts on human bone morphogenetic protein receptor type IA (BMPR1A) by computational approach.
Islam MJ, Parves MR, Mahmud S, Tithi FA, Reza MA.
Islam MJ, et al.
Comput Biol Chem. 2019 Jun;80:31-45. doi: 10.1016/j.compbiolchem.2019.03.004. Epub 2019 Mar 12.
Comput Biol Chem. 2019.
PMID: 30884445
The genetic variations can alter the structure and function of the BMPR1A gene that causes several diseases such as juvenile polyposis syndrome or hereditary cancer-predisposing syndrome. The current study was carried out to identify potential deleteri …
The genetic variations can alter the structure and function of the BMPR1A gene that causes several diseases such as juvenile polyposis syndr …
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