PMC Articles for MedGen (Select 350500) - PMC

Select item 73452041.

A novel germline BMPR1A variant (c.72_73delGA) in a Japanese family with hereditary mixed polyposis syndrome

Yosuke Miyahara, Hideyuki Ishida, Koichi Kawabe, Hiroyuki Eto, Toyotaka Kasai, Tetsuya Ito, Kou Kaneko, Motohiro Arai, Nao Kamae, Shuji Momose, Hidetaka Eguchi, Yasushi Okazaki

Jpn J Clin Oncol. 2020 Jul; 50(7): 826–829. Published online 2020 May 7. doi: 10.1093/jjco/hyaa059

PMCID:: PMC7345204

Article PDF–407K

Select item 57013012.

FGFR2 amplification in colorectal adenocarcinoma

Jamal H. Carter, Catherine E. Cottrell, Samantha N. McNulty, Katinka A. Vigh-Conrad, Stephen Lamp, Jonathan W. Heusel, Eric J. Duncavage

Cold Spring Harb Mol Case Stud. 2017 Nov; 3(6): a001495. doi: 10.1101/mcs.a001495

PMCID:: PMC5701301

Article PDF–5.2M

Select item 36897303.

Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome

Mark Clendenning, Joanne P. Young, Michael D. Walsh, Sonja Woodall, Julie Arnold, Mark Jenkins, Aung Ko Win, John L. Hopper, Kevin Sweet, Steven Gallinger, Christophe Rosty, Susan Parry, Daniel D. Buchanan

PLoS One. 2013; 8(6): e66705. Published online 2013 Jun 21. doi: 10.1371/journal.pone.0066705

PMCID:: PMC3689730

Article PDF–145K

Select item 35149064.

The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative

Juana V. Martín-López, Ysamar Barrios, Vicente Medina-Arana, Miguel Andújar, Sanghee Lee, Liya Gu, Guo-Min Li, Josef Rüschoff, Eduardo Salido, Richard Fishel

Carcinogenesis. 2012 Sep; 33(9): 1647–1654. Published online 2012 Jun 27. doi: 10.1093/carcin/bgs199

PMCID:: PMC3514906

Article PDF–3.0M

Select item 27521765.

High proportion of large genomic deletions and a genotype–phenotype update in 80 unrelated families with juvenile polyposis syndrome

S Aretz, D Stienen, S Uhlhaas, M Stolte, M M Entius, S Loff, W Back, A Kaufmann, K‐M Keller, S H Blaas, R Siebert, S Vogt, S Spranger, E Holinski‐Feder, L Sunde, P Propping, W Friedl

J Med Genet. 2007 Nov; 44(11): 702–709. Published online 2007 Sep 14. doi: 10.1136/jmg.2007.052506

PMCID:: PMC2752176

Article PDF–524K

Select item 25632436.

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

X Cao, K W Eu, M P Kumarasinghe, H H Li, C Loi, P Y Cheah

J Med Genet. 2006 Mar; 43(3): e13. doi: 10.1136/jmg.2005.034827

PMCID:: PMC2563243

Article PDF–560K

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