Markholt S - Search Results

1

Phenotypic variability in a family with an inherited KAT6A frameshift variant.

Ringsted SB, Markholt S, Andreasen L, Gregersen PA. Ringsted SB, et al. Among authors: markholt s. Eur J Med Genet. 2024 Dec 29:104993. doi: 10.1016/j.ejmg.2024.104993. Online ahead of print. Eur J Med Genet. 2024. PMID: 39740728

2

Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and disease.

Lildballe DL, Markholt S, Lyngholm CD, Hao Q, Fagerberg C, Nielsen DG, Svensmark JH, Diness BR, Gregersen PA. Lildballe DL, et al. Among authors: markholt s. Am J Med Genet A. 2024 Nov;194(11):e63795. doi: 10.1002/ajmg.a.63795. Epub 2024 Jun 21. Am J Med Genet A. 2024. PMID: 39394948

3

How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from Denmark.

Hatt L, Ravn K, Dahl Jeppesen L, Hestbek Nicolaisen B, Baasch Christensen I, Singh R, Schelde P, Horsholt Thomsen S, Christensen R, Sinding M, Vase L, Oestergaard M, Bender Ruggard M, Jensen HS, Mogensen H, Uldbjerg N, Becher N, Markholt S, Sandager P, Henning Pedersen L, Vogel I. Hatt L, et al. Among authors: markholt s. Prenat Diagn. 2023 Jun;43(7):854-864. doi: 10.1002/pd.6387. Epub 2023 May 25. Prenat Diagn. 2023. PMID: 37199490

4

Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2.

Markholt S, Andreasen L, Bjerre J, Gregersen PA, Andersen BN. Markholt S, et al. Eur J Med Genet. 2023 Feb;66(2):104695. doi: 10.1016/j.ejmg.2023.104695. Epub 2023 Jan 3. Eur J Med Genet. 2023. PMID: 36608738 Free article.

5

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: markholt s. Hum Genet. 2022 Dec;141(12):1925-1933. doi: 10.1007/s00439-022-02470-9. Epub 2022 Jul 29. Hum Genet. 2022. PMID: 35904628

6

Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome-Applications and Advantages of Cell-Based NIPT.

Jeppesen LD, Hatt L, Singh R, Schelde P, Andreasen L, Markholt S, Lildballe DL, Vogel I. Jeppesen LD, et al. Among authors: markholt s. Front Genet. 2021 Sep 14;12:741752. doi: 10.3389/fgene.2021.741752. eCollection 2021. Front Genet. 2021. PMID: 34594364 Free PMC article.

7

Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.

Lautrup CK, Teik KW, Unzaki A, Mizumoto S, Syx D, Sin HH, Nielsen IK, Markholt S, Yamada S, Malfait F, Matsumoto N, Miyake N, Kosho T. Lautrup CK, et al. Among authors: markholt s. Mol Genet Genomic Med. 2020 May;8(5):e1197. doi: 10.1002/mgg3.1197. Epub 2020 Mar 4. Mol Genet Genomic Med. 2020. PMID: 32130795 Free PMC article.

8

A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2.

Markholt S, Graakjaer J, Thim SB, Høst B, Skytte AB. Markholt S, et al. Clin Case Rep. 2017 Jun 1;5(7):1136-1140. doi: 10.1002/ccr3.1004. eCollection 2017 Jul. Clin Case Rep. 2017. PMID: 28680612 Free PMC article.

9

Toxicological aspects of injectable gold-hyaluronan combination as a treatment for neuroinflammation.

Pedersen DS, Locht LJ, Tran TP, Markholt S, Rungby J, Larsen A. Pedersen DS, et al. Among authors: markholt s. Histol Histopathol. 2014 Apr;29(4):447-56. doi: 10.14670/HH-29.10.447. Epub 2013 Oct 11. Histol Histopathol. 2014. PMID: 24114186

10

Global gene analysis of oocytes from early stages in human folliculogenesis shows high expression of novel genes in reproduction.

Markholt S, Grøndahl ML, Ernst EH, Andersen CY, Ernst E, Lykke-Hartmann K. Markholt S, et al. Mol Hum Reprod. 2012 Feb;18(2):96-110. doi: 10.1093/molehr/gar083. Epub 2012 Jan 10. Mol Hum Reprod. 2012. PMID: 22238370

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