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Items: 28

1.

Case of successful IVF treatment of an oligospermic male with 46,XX/46,XY chimerism.

Laursen RJ, Alsbjerg B, Vogel I, Gravholt CH, Elbaek H, Lildballe DL, Humaidan P, Vestergaard EM.

J Assist Reprod Genet. 2018 Jul;35(7):1325-1328. doi: 10.1007/s10815-018-1194-5. Epub 2018 Apr 30.

2.

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.

Eur J Med Genet. 2019 Jan;62(1):1-8. doi: 10.1016/j.ejmg.2018.04.003. Epub 2018 Apr 11.

PMID:
29653220
3.

Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination.

Aamann L, Ørntoft N, Vogel I, Grønbaek H, Becher N, Vilstrup H, Ott P, Lildballe DL.

Scand J Gastroenterol. 2018 Mar;53(3):305-311. doi: 10.1080/00365521.2017.1422800. Epub 2018 Jan 5.

PMID:
29304564
4.

Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.

Rasmussen M, Sunde L, Nielsen ML, Ramsing M, Petersen A, Hjortshøj TD, Olsen TE, Tabor A, Hertz JM, Johnsen I, Sperling L, Petersen OB, Jensen UB, Møller FG, Petersen MB, Lildballe DL.

Clin Genet. 2018 Apr;93(4):860-869. doi: 10.1111/cge.13185. Epub 2018 Feb 23.

PMID:
29194579
5.

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.

Prenat Diagn. 2017 Nov;37(11):1120-1124. doi: 10.1002/pd.5150. Epub 2017 Oct 10.

PMID:
28881392
6.

A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans.

Brophy PD, Rasmussen M, Parida M, Bonde G, Darbro BW, Hong X, Clarke JC, Peterson KA, Denegre J, Schneider M, Sussman CR, Sunde L, Lildballe DL, Hertz JM, Cornell RA, Murray SA, Manak JR.

Genetics. 2017 Sep;207(1):215-228. doi: 10.1534/genetics.117.1125. Epub 2017 Jul 24.

7.

A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.

Lauritsen KF, Lildballe DL, Coucke PJ, Monrad R, Larsen DA, Gregersen PA.

Eur J Med Genet. 2017 May;60(5):275-278. doi: 10.1016/j.ejmg.2017.03.005. Epub 2017 Mar 14.

PMID:
28315471
8.

Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy.

Lildballe DL, Vogel I, Lund IC, Stornes I, Jørgensen MW, Vestergaard EM.

Prenat Diagn. 2016 Dec;36(12):1112-1114. doi: 10.1002/pd.4943. Epub 2016 Nov 10. No abstract available.

PMID:
27743407
9.

Cell-free DNA in pregnancy with choriocarcinoma and coexistent live fetus: A case report.

Kristiansen MK, Niemann I, Lindegaard JC, Christiansen M, Joergensen MW, Vogel I, Lildballe DL, Sunde L.

Medicine (Baltimore). 2016 Sep;95(37):e4721. doi: 10.1097/MD.0000000000004721.

10.

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.

Clin Epigenetics. 2016 Jun 16;8:69. doi: 10.1186/s13148-016-0236-z. eCollection 2016.

11.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium, Bulman DE, Boycott KM, Lines MA.

Hum Mutat. 2016 Feb;37(2):148-54. doi: 10.1002/humu.22924. Epub 2015 Nov 19. Review.

12.

Diagnostic performance of quantitative fluorescence PCR analysis in high-risk pregnancies after combined first-trimester screening.

Lildballe DL, Vogel I, Petersen OB, Vestergaard EM.

Dan Med J. 2014 Nov;61(11):A4964.

PMID:
25370964
13.

A novel FBN1 variant in a large Marfan family with high penetrance of aortic dissection or rupture.

Rasmussen M, Pedersen SF, Sunde L, Andersen NH, Ostergaard JR, Lildballe DL.

Dan Med J. 2014 Nov;61(11):A4949.

PMID:
25370960
14.

A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia.

Henningsen E, Svendsen MT, Lildballe DL, Jensen PK.

Am J Med Genet A. 2014 Aug;164A(8):2059-61. doi: 10.1002/ajmg.a.36582. Epub 2014 Apr 24.

PMID:
24764207
15.

Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing.

Rasmussen M, Sunde L, Weigert KP, Bogaard PW, Lildballe DL.

Am J Med Genet A. 2014 May;164A(5):1318-21. doi: 10.1002/ajmg.a.36454. Epub 2014 Mar 24.

PMID:
24665065
16.

Cobalamin and haptocorrin in human milk and cobalamin-related variables in mother and child: a 9-mo longitudinal study.

Greibe E, Lildballe DL, Streym S, Vestergaard P, Rejnmark L, Mosekilde L, Nexo E.

Am J Clin Nutr. 2013 Aug;98(2):389-95. doi: 10.3945/ajcn.113.058479.

PMID:
23783295
17.

Vitamin B₁₂ dependent changes in mouse spinal cord expression of vitamin B₁₂ related proteins and the epidermal growth factor system.

Mutti E, Lildballe DL, Kristensen L, Birn H, Nexo E.

Brain Res. 2013 Mar 29;1503:1-6. doi: 10.1016/j.brainres.2013.01.050. Epub 2013 Feb 8.

PMID:
23399680
18.

Maximal load of the vitamin B12 transport system: a study on mice treated for four weeks with high-dose vitamin B12 or cobinamide.

Lildballe DL, Mutti E, Birn H, Nexo E.

PLoS One. 2012;7(10):e46657. doi: 10.1371/journal.pone.0046657. Epub 2012 Oct 1.

19.

Comparison of recombinant human haptocorrin expressed in human embryonic kidney cells and native haptocorrin.

Furger E, Fedosov SN, Lildballe DL, Waibel R, Schibli R, Nexo E, Fischer E.

PLoS One. 2012;7(5):e37421. doi: 10.1371/journal.pone.0037421. Epub 2012 May 25.

20.

Breast milk vitamin B-12 concentrations in Guatemalan women are correlated with maternal but not infant vitamin B-12 status at 12 months postpartum.

Deegan KL, Jones KM, Zuleta C, Ramirez-Zea M, Lildballe DL, Nexo E, Allen LH.

J Nutr. 2012 Jan;142(1):112-6. doi: 10.3945/jn.111.143917. Epub 2011 Nov 30.

PMID:
22131550
21.

Uptake of cobalamin and markers of cobalamin status: a longitudinal study of healthy pregnant women.

Greibe E, Andreasen BH, Lildballe DL, Morkbak AL, Hvas AM, Nexo E.

Clin Chem Lab Med. 2011 Nov;49(11):1877-82. doi: 10.1515/CCLM.2011.682. Epub 2011 Aug 30.

PMID:
21875397
22.

Association of cognitive impairment with combinations of vitamin B₁₂-related parameters.

Lildballe DL, Fedosov S, Sherliker P, Hin H, Clarke R, Nexo E.

Clin Chem. 2011 Oct;57(10):1436-43. doi: 10.1373/clinchem.2011.165944. Epub 2011 Aug 11.

23.

Effect of the vitamin B12-binding protein haptocorrin present in human milk on a panel of commensal and pathogenic bacteria.

Jensen HR, Laursen MF, Lildballe DL, Andersen JB, Nexø E, Licht TR.

BMC Res Notes. 2011 Jun 21;4:208. doi: 10.1186/1756-0500-4-208.

24.

Mouse transcobalamin has features resembling both human transcobalamin and haptocorrin.

Hygum K, Lildballe DL, Greibe EH, Morkbak AL, Poulsen SS, Sorensen BS, Petersen TE, Nexo E.

PLoS One. 2011;6(5):e20638. doi: 10.1371/journal.pone.0020638. Epub 2011 May 31.

25.

Haptocorrin as marker of disease progression in fibrolamellar hepatocellular carcinoma.

Lildballe DL, Nguyen KQ, Poulsen SS, Nielsen HO, Nexo E.

Eur J Surg Oncol. 2011 Jan;37(1):72-9. doi: 10.1016/j.ejso.2010.11.001.

PMID:
21111562
26.

Nucleocytoplasmic distribution of the Arabidopsis chromatin-associated HMGB2/3 and HMGB4 proteins.

Pedersen DS, Merkle T, Marktl B, Lildballe DL, Antosch M, Bergmann T, Tönsing K, Anselmetti D, Grasser KD.

Plant Physiol. 2010 Dec;154(4):1831-41. doi: 10.1104/pp.110.163055. Epub 2010 Oct 12.

27.

High concentrations of haptocorrin interfere with routine measurement of cobalamins in human serum and milk. A problem and its solution.

Lildballe DL, Hardlei TF, Allen LH, Nexo E.

Clin Chem Lab Med. 2009;47(2):182-7. doi: 10.1515/CCLM.2009.047.

PMID:
19191724
28.

The expression level of the chromatin-associated HMGB1 protein influences growth, stress tolerance, and transcriptome in Arabidopsis.

Lildballe DL, Pedersen DS, Kalamajka R, Emmersen J, Houben A, Grasser KD.

J Mol Biol. 2008 Dec 5;384(1):9-21. doi: 10.1016/j.jmb.2008.09.014. Epub 2008 Sep 16.

PMID:
18822296

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