Christensen R - Search Results

1

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.

Boonen SE, Freschi A, Christensen R, Valente FM, Lildballe DL, Perone L, Palumbo O, Carella M, Uldbjerg N, Sparago A, Riccio A, Cerrato F. Boonen SE, et al. Among authors: christensen r. Clin Epigenetics. 2016 Jun 16;8:69. doi: 10.1186/s13148-016-0236-z. eCollection 2016. Clin Epigenetics. 2016. PMID: 27313795 Free PMC article.

2

Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray.

Lund IC, Vestergaard EM, Christensen R, Uldbjerg N, Becher N. Lund IC, et al. Among authors: christensen r. Eur J Med Genet. 2016 Jan;59(1):48-51. doi: 10.1016/j.ejmg.2015.12.001. Epub 2015 Dec 9. Eur J Med Genet. 2016. PMID: 26679067

3

On the road to replacing invasive testing with cell-based NIPT: Five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement, or mosaicism.

Vestergaard EM, Singh R, Schelde P, Hatt L, Ravn K, Christensen R, Lildballe DL, Petersen OB, Uldbjerg N, Vogel I. Vestergaard EM, et al. Among authors: christensen r. Prenat Diagn. 2017 Nov;37(11):1120-1124. doi: 10.1002/pd.5150. Epub 2017 Oct 10. Prenat Diagn. 2017. PMID: 28881392

4

Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.

Vaeth S, Christensen R, Dunø M, Lildballe DL, Thorsen K, Vissing J, Svenstrup K, Hertz JM, Andersen H, Jensen UB. Vaeth S, et al. Among authors: christensen r. Eur J Med Genet. 2019 Jan;62(1):1-8. doi: 10.1016/j.ejmg.2018.04.003. Epub 2018 Apr 11. Eur J Med Genet. 2019. PMID: 29653220

5

Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy.

Jeppesen LD, Hjortshøj TD, Hindkjær J, Hatt L, Petersen OB, Singh R, Schelde P, Andreasen L, Christensen R, Lildballe DL, Vogel I. Jeppesen LD, et al. Among authors: christensen r. Front Genet. 2022 Mar 11;13:842092. doi: 10.3389/fgene.2022.842092. eCollection 2022. Front Genet. 2022. PMID: 35360877 Free PMC article.

6

A decade of change - lessons learned from prenatal diagnostics in Central Denmark region in 2008-2018.

Lildballe DL, Becher N, Vestergaard EM, Christensen R, Lou S, Sandager P, Pedersen LH, Gadsbøll K, Petersen OB, Vogel I. Lildballe DL, et al. Among authors: christensen r. Acta Obstet Gynecol Scand. 2023 Nov;102(11):1505-1510. doi: 10.1111/aogs.14631. Epub 2023 Jul 21. Acta Obstet Gynecol Scand. 2023. PMID: 37477337 Free PMC article.

7

Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations.

Hatt L, Singh R, Christensen R, Ravn K, Christensen IB, Jeppesen LD, Nicolaisen BH, Kølvraa M, Schelde P, Andreassen L, Farlie R, Uldbjerg N, Vogel I. Hatt L, et al. Among authors: christensen ib, christensen r. Clin Case Rep. 2020 Aug 9;8(12):2561-2567. doi: 10.1002/ccr3.3211. eCollection 2020 Dec. Clin Case Rep. 2020. PMID: 33363780 Free PMC article.

8

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: christensen r. Prenat Diagn. 2023 Jun;43(7):854-864. doi: 10.1002/pd.6387. Epub 2023 May 25. Prenat Diagn. 2023. PMID: 37199490

9

Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis.

Mertz LG, Christensen R, Vogel I, Hertz JM, Nielsen KB, Grønskov K, Østergaard JR. Mertz LG, et al. Among authors: christensen r. Am J Med Genet A. 2013 Sep;161A(9):2197-203. doi: 10.1002/ajmg.a.36058. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913711

10

Eating behavior, prenatal and postnatal growth in Angelman syndrome.

Mertz LG, Christensen R, Vogel I, Hertz JM, Østergaard JR. Mertz LG, et al. Among authors: christensen r. Res Dev Disabil. 2014 Nov;35(11):2681-90. doi: 10.1016/j.ridd.2014.07.025. Epub 2014 Jul 26. Res Dev Disabil. 2014. PMID: 25064682

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