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Items: 1 to 50 of 251

1.

Danish Sonographers' Experiences of the Introduction of "Moderate Risk" in Prenatal Screening for Down Syndrome.

Møller A, Vogel I, Petersen OB, Lou S.

J Pregnancy. 2018 Oct 9;2018:1646035. doi: 10.1155/2018/1646035. eCollection 2018.

2.

Novel TRPV4 variant causes a severe form of metatropic dysplasia.

Graversen L, Haagerup A, Andersen BN, Petersen KK, Gjørup V, Gudmundsdottir G, Vogel I, Gregersen PA.

Clin Case Rep. 2018 Jul 20;6(9):1774-1778. doi: 10.1002/ccr3.1598. eCollection 2018 Sep.

3.

Does Maternal Body Mass Index Affect the Quantity of Circulating Fetal Cells Available to Use for Cell-Based Noninvasive Prenatal Test in High-Risk Pregnancies?

Kruckow S, Schelde P, Hatt L, Ravn K, Petersen OB, Uldbjerg N, Vogel I, Singh R.

Fetal Diagn Ther. 2018 Sep 10:1-4. doi: 10.1159/000492028. [Epub ahead of print]

4.

Population-Based Screening for Trisomies and Atypical Chromosomal Abnormalities: Improving Efficacy using the Combined First Trimester Screening Algorithm as well as Individual Risk Parameters.

Vogel I, Tabor A, Ekelund C, Lou S, Hyett J, Petersen OB; The Danish Fetal Medicine Study Group, and the Danish Cytogenetic Study Group.

Fetal Diagn Ther. 2018 Sep 10:1-6. doi: 10.1159/000492152. [Epub ahead of print]

PMID:
30199859
5.

Is MED13L-related intellectual disability a recognizable syndrome?

Tørring PM, Larsen MJ, Brasch-Andersen C, Krogh LN, Kibæk M, Laulund L, Illum N, Dunkhase-Heinl U, Wiesener A, Popp B, Marangi G, Hjortshøj TD, Ek J, Vogel I, Becher N, Roos L, Zollino M, Fagerberg CR.

Eur J Med Genet. 2018 Jun 27. pii: S1769-7212(18)30144-7. doi: 10.1016/j.ejmg.2018.06.014. [Epub ahead of print]

PMID:
29959045
6.

Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome.

Huijsdens-van Amsterdam K, Page-Christiaens L, Flowers N, Bonifacio MD, Ellis KMB, Vogel I, Vestergaard EM, Miguelez J, de Carvalho MHB, Sistermans EA, Pertile MD.

Eur J Hum Genet. 2018 Oct;26(10):1490-1496. doi: 10.1038/s41431-018-0188-1. Epub 2018 Jun 13.

PMID:
29899373
7.

Termination of pregnancy following a prenatal diagnosis of Down syndrome: A qualitative study of the decision-making process of pregnant couples.

Lou S, Carstensen K, Petersen OB, Nielsen CP, Hvidman L, Lanther MR, Vogel I.

Acta Obstet Gynecol Scand. 2018 Oct;97(10):1228-1236. doi: 10.1111/aogs.13386. Epub 2018 Jun 15.

PMID:
29791717
8.

Preferences for prenatal testing among pregnant women, partners and health professionals.

Lund ICB, Becher N, Petersen OB, Hill M, Chitty L, Vogel I.

Dan Med J. 2018 May;65(5). pii: A5486.

PMID:
29726320
9.

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.

PMID:
29713857
10.

Is carriership of a balanced translocation or inversion an indication for non-invasive prenatal testing?

Srebniak MI, Vogel I, Van Opstal D.

Expert Rev Mol Diagn. 2018 Jun;18(6):477-479. doi: 10.1080/14737159.2018.1468255. Epub 2018 Apr 26. No abstract available.

PMID:
29676188
11.

Prenatal screening for atypical chromosomal abnormalities: past or future?

Vogel I, Petersen OB.

Ultrasound Obstet Gynecol. 2018 Apr;51(4):434-435. doi: 10.1002/uog.19030. No abstract available.

PMID:
29634091
12.

Persistent Increased Enteric Glial Expression of S100β is Associated With Low-grade Inflammation in Patients With Diverticular Disease.

Cossais F, Leuschner S, Barrenschee M, Lange C, Ebsen M, Vogel I, Böttner M, Wedel T.

J Clin Gastroenterol. 2018 Mar 6. doi: 10.1097/MCG.0000000000001011. [Epub ahead of print]

PMID:
29517710
13.

Ultrasound in Prenatal Diagnostics and Its Impact on the Epidemiology of Spina Bifida in a National Cohort from Denmark with a Comparison to Sweden.

Bodin CR, Rasmussen MM, Tabor A, Westbom L, Tiblad E, Ekelund CK, Wulff CB, Vogel I, Petersen OB.

Biomed Res Int. 2018 Feb 1;2018:9203985. doi: 10.1155/2018/9203985. eCollection 2018.

14.

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
15.

Regulatory T cells constrain the TCR repertoire of antigen-stimulated conventional CD4 T cells.

Fontaine M, Vogel I, Van Eycke YR, Galuppo A, Ajouaou Y, Decaestecker C, Kassiotis G, Moser M, Leo O.

EMBO J. 2018 Feb 1;37(3):398-412. doi: 10.15252/embj.201796881. Epub 2017 Dec 20.

PMID:
29263148
16.

National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973-2016 in Denmark.

Lou S, Petersen OB, Jørgensen FS, Lund ICB, Kjaergaard S; Danish Cytogenetic Central Registry Study Group, Vogel I.

Acta Obstet Gynecol Scand. 2018 Feb;97(2):195-203. doi: 10.1111/aogs.13273.

PMID:
29194566
17.

Algorithm for sorting chromosomal aberration data.

Vogel I, Lund N, Rasmussen S, Kopp TI, Petersen OB.

Ultrasound Obstet Gynecol. 2018 Apr;51(4):557-558. doi: 10.1002/uog.18944. No abstract available.

PMID:
29080253
18.

An intermediate level of CD161 expression defines a novel activated, inflammatory, and pathogenic subset of CD8+ T cells involved in multiple sclerosis.

Nicol B, Salou M, Vogel I, Garcia A, Dugast E, Morille J, Kilens S, Charpentier E, Donnart A, Nedellec S, Jacq-Foucher M, Le Frère F, Wiertlewski S, Bourreille A, Brouard S, Michel L, David L, Gourraud PA, Degauque N, Nicot AB, Berthelot L, Laplaud DA.

J Autoimmun. 2018 Mar;88:61-74. doi: 10.1016/j.jaut.2017.10.005. Epub 2017 Oct 18.

19.

Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome.

Pierzchlewska MM, Robaczyk MG, Vogel I.

Endokrynol Pol. 2017;68(6):692-696. doi: 10.5603/EP.a2017.0059. Epub 2017 Oct 12.

PMID:
29022642
20.

Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome.

Moosa S, Altmüller J, Lyngbye T, Christensen R, Li Y, Nürnberg P, Yigit G, Vogel I, Wollnik B.

Mol Genet Genomic Med. 2017 Jul 28;5(5):580-584. doi: 10.1002/mgg3.287. eCollection 2017 Sep.

21.

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
22.

IGF-1 Attenuates Hypoxia-Induced Atrophy but Inhibits Myoglobin Expression in C2C12 Skeletal Muscle Myotubes.

Peters EL, van der Linde SM, Vogel ISP, Haroon M, Offringa C, de Wit GMJ, Koolwijk P, van der Laarse WJ, Jaspers RT.

Int J Mol Sci. 2017 Sep 1;18(9). pii: E1889. doi: 10.3390/ijms18091889.

23.

Stalled replication forks generate a distinct mutational signature in yeast.

Larsen NB, Liberti SE, Vogel I, Jørgensen SW, Hickson ID, Mankouri HW.

Proc Natl Acad Sci U S A. 2017 Sep 5;114(36):9665-9670. doi: 10.1073/pnas.1706640114. Epub 2017 Aug 21.

24.

Oxytocin reduces alcohol consumption in prairie voles.

Stevenson JR, Wenner SM, Freestone DM, Romaine CC, Parian MC, Christian SM, Bohidar AE, Ndem JR, Vogel IR, O'Kane CM.

Physiol Behav. 2017 Oct 1;179:411-421. doi: 10.1016/j.physbeh.2017.07.021. Epub 2017 Jul 14.

PMID:
28716609
25.

Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship.

Vogel I, Ott P, Lildballe D, Hamilton-Dutoit S, Vilstrup H, Grønbæk H.

Clin Case Rep. 2017 May 23;5(7):1098-1102. doi: 10.1002/ccr3.981. eCollection 2017 Jul.

26.

Fetal cells in maternal blood for prenatal diagnosis: a love story rekindled.

Singh R, Hatt L, Ravn K, Vogel I, Petersen OB, Uldbjerg N, Schelde P.

Biomark Med. 2017 Jun 15. doi: 10.2217/bmm-2017-0055. [Epub ahead of print] No abstract available.

27.

Parental response to severe or lethal prenatal diagnosis: a systematic review of qualitative studies.

Lou S, Jensen LG, Petersen OB, Vogel I, Hvidman L, Møller A, Nielsen CP.

Prenat Diagn. 2017 Aug;37(8):731-743. doi: 10.1002/pd.5093. Epub 2017 Jul 20. Review.

PMID:
28614902
28.

Chromosomal microarray as primary diagnostic genomic tool for pregnancies at increased risk within a population-based combined first-trimester screening program.

Vogel I, Petersen OB, Christensen R, Hyett J, Lou S, Vestergaard EM.

Ultrasound Obstet Gynecol. 2018 Apr;51(4):480-486. doi: 10.1002/uog.17548. Epub 2018 Mar 4.

PMID:
28608362
29.

Experiences and expectations in the first trimester of pregnancy: a qualitative study.

Lou S, Frumer M, Schlütter MM, Petersen OB, Vogel I, Nielsen CP.

Health Expect. 2017 Dec;20(6):1320-1329. doi: 10.1111/hex.12572. Epub 2017 May 18.

30.

First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray.

Støve HK, Becher N, Gjørup V, Ramsing M, Vogel I, Vestergaard EM.

Clin Case Rep. 2017 Mar 17;5(5):608-612. doi: 10.1002/ccr3.902. eCollection 2017 May.

31.

Potential biomarkers of DNA replication stress in cancer.

Ren L, Chen L, Wu W, Garribba L, Tian H, Liu Z, Vogel I, Li C, Hickson ID, Liu Y.

Oncotarget. 2017 Jun 6;8(23):36996-37008. doi: 10.18632/oncotarget.16940. Review.

32.

Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum.

Moosa S, Loeys B, Altmüller J, Mortier G, Nürnberg P, Li Y, Wollnik B, Vogel I.

Clin Genet. 2017 Sep;92(3):342-343. doi: 10.1111/cge.12990. Epub 2017 Mar 30. No abstract available.

PMID:
28369852
33.

Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmüller J, Thiele H, Nürnberg P, Cho TJ, Kim OH, Nishimura G, Wollnik B, Vogel I.

Am J Med Genet A. 2017 Apr;173(4):1102-1108. doi: 10.1002/ajmg.a.38116.

PMID:
28328135
34.

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.

Le Tanno P, Breton J, Bidart M, Satre V, Harbuz R, Ray PF, Bosson C, Dieterich K, Jaillard S, Odent S, Poke G, Beddow R, Digilio MC, Novelli A, Bernardini L, Pisanti MA, Mackenroth L, Hackmann K, Vogel I, Christensen R, Fokstuen S, Béna F, Amblard F, Devillard F, Vieville G, Apostolou A, Jouk PS, Guebre-Egziabher F, Sartelet H, Coutton C.

J Med Genet. 2017 Jul;54(7):502-510. doi: 10.1136/jmedgenet-2016-104435. Epub 2017 Mar 7.

PMID:
28270404
35.

No neuronal loss, but alterations of the GDNF system in asymptomatic diverticulosis.

Barrenschee M, Wedel T, Lange C, Hohmeier I, Cossais F, Ebsen M, Vogel I, Böttner M.

PLoS One. 2017 Feb 2;12(2):e0171416. doi: 10.1371/journal.pone.0171416. eCollection 2017.

36.

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
37.

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.

38.

Monitoring and functional characterization of the lymphocytic compartment in pancreatic ductal adenocarcinoma patients.

Oberg HH, Grage-Griebenow E, Adam-Klages S, Jerg E, Peipp M, Kellner C, Petrick D, Gonnermann D, Freitag-Wolf S, Röcken C, Sebens T, Vogel I, Becker T, Ebsen M, Kabelitz D, Wesch D, Sebens S.

Pancreatology. 2016 Nov - Dec;16(6):1069-1079. doi: 10.1016/j.pan.2016.07.008. Epub 2016 Jul 11.

PMID:
27424476
39.

Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations.

Granild Bie Mertz L, Christensen R, Vogel I, Hertz JM, Østergaard JR.

Res Dev Disabil. 2016 Sep;56:177-82. doi: 10.1016/j.ridd.2016.06.002.

PMID:
27323320
40.

Regulatory T Cell-Dependent and -Independent Mechanisms of Immune Suppression by CD28/B7 and CD40/CD40L Costimulation Blockade.

Vogel I, Verbinnen B, Van Gool S, Ceuppens JL.

J Immunol. 2016 Jul 15;197(2):533-40. doi: 10.4049/jimmunol.1502039. Epub 2016 Jun 10.

41.

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.

Cortés CR, McInerney-Leo AM, Vogel I, Rondón Galeano MC, Leo PJ, Harris JE, Anderson LK, Keith PA, Brown MA, Ramsing M, Duncan EL, Zankl A, Wicking C.

Sci Rep. 2016 Apr 20;6:24083. doi: 10.1038/srep24083.

42.

Mechanism of pancreatic and liver malformations in human fetuses with short-rib polydactyly syndrome.

Loo CK, Pereira TN, Ramsing M, Vogel I, Petersen OB, Ramm GA.

Birth Defects Res A Clin Mol Teratol. 2016 Jul;106(7):549-62. doi: 10.1002/bdra.23495. Epub 2016 Mar 11.

PMID:
26970085
43.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T.

Am J Hum Genet. 2016 Mar 3;98(3):541-552. doi: 10.1016/j.ajhg.2016.02.004.

44.

Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals.

Hill M, Johnson JA, Langlois S, Lee H, Winsor S, Dineley B, Horniachek M, Lalatta F, Ronzoni L, Barrett AN, Advani HV, Choolani M, Rabinowitz R, Pajkrt E, van Schendel RV, Henneman L, Rommers W, Bilardo CM, Rendeiro P, Ribeiro MJ, Rocha J, Bay Lund IC, Petersen OB, Becher N, Vogel I, Stefánsdottir V, Ingvarsdottir S, Gottfredsdottir H, Morris S, Chitty LS.

Eur J Hum Genet. 2016 Jul;24(7):968-75. doi: 10.1038/ejhg.2015.249. Epub 2015 Nov 18.

45.

Protein aggregation as an antibiotic design strategy.

Bednarska NG, van Eldere J, Gallardo R, Ganesan A, Ramakers M, Vogel I, Baatsen P, Staes A, Goethals M, Hammarström P, Nilsson KP, Gevaert K, Schymkowitz J, Rousseau F.

Mol Microbiol. 2016 Mar;99(5):849-65. doi: 10.1111/mmi.13269. Epub 2015 Dec 9.

46.

Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort.

Christiansen M, Ekelund CK, Petersen OB, Hyett J, Eastwood N, Ball S, Tabor A, Vogel I.

Prenat Diagn. 2016 Jan;36(1):49-55. doi: 10.1002/pd.4711. Epub 2015 Nov 19.

PMID:
26505467
47.

The development of hepatic stellate cells in normal and abnormal human fetuses - an immunohistochemical study.

Loo CK, Pereira TN, Pozniak KN, Ramsing M, Vogel I, Ramm GA.

Physiol Rep. 2015 Aug;3(8). pii: e12504. doi: 10.14814/phy2.12504.

48.

[Hepatocellular adenoma - new classification and recommendations].

Aamann L, Schultz N, Fallentin E, Hamilton-Dutoit S, Vogel I, Grønbæk H.

Ugeskr Laeger. 2015 Mar 16;177(12):V07140397. Review. Danish.

PMID:
25786843
49.

Bullying, abuse and family conflict as risk factors for chronic pain among Dutch adolescents.

Voerman JS, Vogel I, de Waart F, Westendorp T, Timman R, Busschbach JJ, van de Looij-Jansen P, de Klerk C.

Eur J Pain. 2015 Nov;19(10):1544-51. doi: 10.1002/ejp.689. Epub 2015 Mar 5.

PMID:
25752511
50.

CD28/CTLA-4/B7 costimulatory pathway blockade affects regulatory T-cell function in autoimmunity.

Vogel I, Kasran A, Cremer J, Kim YJ, Boon L, Van Gool SW, Ceuppens JL.

Eur J Immunol. 2015 Jun;45(6):1832-41. doi: 10.1002/eji.201445190. Epub 2015 Apr 3.

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