Gerdes AM - Search Results

1

Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.

Frederiksen JH, Birkedal U, Bachmann S, Eliesen EV, Rasmussen LJ, Pedersen KV, Al-Zehhawi L, Boonen SE, Krogh L, Rønlund K, Graversen L, Assenholt J, Schmiegelow K, Wadt K, Gerdes AM, Hansen TVO. Frederiksen JH, et al. Among authors: gerdes am. Mol Genet Genomic Med. 2024 Nov;12(11):e70026. doi: 10.1002/mgg3.70026. Mol Genet Genomic Med. 2024. PMID: 39548353 Free PMC article.

2

A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one.

Kantelinen J, Hansen TV, Kansikas M, Krogh LN, Korhonen MK, Ollila S, Nyström M, Gerdes AM, Kariola R. Kantelinen J, et al. Among authors: gerdes am. Fam Cancer. 2011 Sep;10(3):515-20. doi: 10.1007/s10689-011-9436-z. Fam Cancer. 2011. PMID: 21431882

3

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.

Petersen SM, Dandanell M, Rasmussen LJ, Gerdes AM, Krogh LN, Bernstein I, Okkels H, Wikman F, Nielsen FC, Hansen TV. Petersen SM, et al. Among authors: gerdes am. BMC Med Genet. 2013 Oct 3;14:103. doi: 10.1186/1471-2350-14-103. BMC Med Genet. 2013. PMID: 24090359 Free PMC article.

4

Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer.

Djursby M, Hansen TVO, Wadt KAW, Madsen MB, Berchtold LA, Lautrup CK, Markholt S, Jensen UB, Krogh LN, Lundsgaard M, Gerdes AM, Nilbert M, Therkildsen C. Djursby M, et al. Among authors: gerdes am. Hum Genet. 2022 Dec;141(12):1925-1933. doi: 10.1007/s00439-022-02470-9. Epub 2022 Jul 29. Hum Genet. 2022. PMID: 35904628

5

Functional characterization of BRCA1 gene variants by mini-gene splicing assay.

Steffensen AY, Dandanell M, Jønson L, Ejlertsen B, Gerdes AM, Nielsen FC, Hansen Tv. Steffensen AY, et al. Among authors: gerdes am. Eur J Hum Genet. 2014 Dec;22(12):1362-8. doi: 10.1038/ejhg.2014.40. Epub 2014 Mar 26. Eur J Hum Genet. 2014. PMID: 24667779 Free PMC article.

6

Germline RAD51B truncating mutation in a family with cutaneous melanoma.

Wadt KA, Aoude LG, Golmard L, Hansen TV, Sastre-Garau X, Hayward NK, Gerdes AM. Wadt KA, et al. Among authors: gerdes am. Fam Cancer. 2015 Jun;14(2):337-40. doi: 10.1007/s10689-015-9781-4. Fam Cancer. 2015. PMID: 25600502

7

Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier.

Byrjalsen A, Steffensen AY, Hansen TVO, Wadt K, Gerdes AM. Byrjalsen A, et al. Among authors: gerdes am. Clin Case Rep. 2017 Apr 22;5(6):876-879. doi: 10.1002/ccr3.944. eCollection 2017 Jun. Clin Case Rep. 2017. PMID: 28588830 Free PMC article.

8

Exploring the hereditary background of renal cancer in Denmark.

Christensen MB, Wadt K, Jensen UB, Lautrup CK, Bojesen A, Krogh LN, Overeem Hansen TV, Gerdes AM. Christensen MB, et al. Among authors: gerdes am. PLoS One. 2019 Apr 29;14(4):e0215725. doi: 10.1371/journal.pone.0215725. eCollection 2019. PLoS One. 2019. PMID: 31034483 Free PMC article.

9

A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis.

Altaraihi M, Gerdes AM, Wadt K. Altaraihi M, et al. Among authors: gerdes am. Hum Genome Var. 2019 Oct 10;6:46. doi: 10.1038/s41439-019-0077-3. eCollection 2019. Hum Genome Var. 2019. PMID: 31645984 Free PMC article.

10

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families.

Djursby M, Wadt K, Frederiksen JH, Madsen MB, Berchtold LA, Hasselby JP, Willemoe GL, Hansen TVO, Gerdes AM. Djursby M, et al. Among authors: gerdes am. Hered Cancer Clin Pract. 2020 Apr 7;18:8. doi: 10.1186/s13053-020-00140-3. eCollection 2020. Hered Cancer Clin Pract. 2020. PMID: 32292534 Free PMC article.

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