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Items: 1 to 50 of 265

1.

Prevalence of mosaicism in uncultured chorionic villus samples after chromosomal microarray and clinical outcome in pregnancies affected by confined placental mosaicism.

Lund ICB, Becher N, Christensen R, Petersen OB, Steffensen EH, Vestergaard EM, Vogel I.

Prenat Diagn. 2019 Nov 26. doi: 10.1002/pd.5584. [Epub ahead of print]

PMID:
31769052
2.

"This is the child we were given": A qualitative study of Danish parents' experiences of a prenatal Down syndrome diagnosis and their decision to continue the pregnancy.

Lou S, Lanther MR, Hagenstjerne N, Bjørn Petersen O, Vogel I.

Sex Reprod Healthc. 2019 Nov 6;23:100480. doi: 10.1016/j.srhc.2019.100480. [Epub ahead of print]

PMID:
31733609
3.

Chromosome errors in human eggs shape natural fertility over reproductive life span.

Gruhn JR, Zielinska AP, Shukla V, Blanshard R, Capalbo A, Cimadomo D, Nikiforov D, Chan AC, Newnham LJ, Vogel I, Scarica C, Krapchev M, Taylor D, Kristensen SG, Cheng J, Ernst E, Bjørn AB, Colmorn LB, Blayney M, Elder K, Liss J, Hartshorne G, Grøndahl ML, Rienzi L, Ubaldi F, McCoy R, Lukaszuk K, Andersen CY, Schuh M, Hoffmann ER.

Science. 2019 Sep 27;365(6460):1466-1469. doi: 10.1126/science.aav7321.

PMID:
31604276
4.

Placental mosaicism in the era of chromosomal microarrays.

Vogel I, Vestergaard EM, Lildballe DL, Christensen R, Hoseth GE, Petersen AC, Bogaard P, Sørensen AN.

Eur J Med Genet. 2019 Sep 30:103778. doi: 10.1016/j.ejmg.2019.103778. [Epub ahead of print]

PMID:
31580923
5.

Denmark's exemplary gender balance trips up in science.

Bendixen M, Meehan C, Hall VJ, Vogel I.

Nature. 2019 Aug;572(7768):178. doi: 10.1038/d41586-019-02369-y. No abstract available.

PMID:
31388160
6.

Second-trimester fetal head circumference in more than 350 000 pregnancies: Outcome and suggestion for sex-dependent cutoffs for small heads.

Lund N, Sandager P, Leonhard AK, Vogel I, Petersen OB.

Prenat Diagn. 2019 Sep;39(10):910-920. doi: 10.1002/pd.5504. Epub 2019 Jul 25.

PMID:
31218719
7.

SureTypeSC - A Random Forest and Gaussian Mixture predictor of high confidence genotypes in single cell data.

Vogel I, Blanshard RC, Hoffmann ER.

Bioinformatics. 2019 May 22. pii: btz412. doi: 10.1093/bioinformatics/btz412. [Epub ahead of print]

PMID:
31116387
8.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH.

Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.

9.

Altered enteric expression of the homeobox transcription factor Phox2b in patients with diverticular disease.

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

United European Gastroenterol J. 2019 Apr;7(3):349-357. doi: 10.1177/2050640618824913. Epub 2019 Jan 16.

10.

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations.

Graversen L, Handrup MM, Irving M, Hove H, Diness BR, Risom L, Svaneby D, Aagaard MM, Vogel I, Gjørup H, Davidsen M, Hellfritzsch MB, Lauridsen E, Gregersen PA.

Eur J Med Genet. 2019 Apr 11:103650. doi: 10.1016/j.ejmg.2019.04.007. [Epub ahead of print]

PMID:
30980954
11.

Fetal costello syndrome: a description of the phenotype of HRAS exon 1 mutations.

Schøler Nørgaard M, Mogra R, Pinner J, Kagan KO, Warming Jørgensen M, Gjørup V, Petersen OB, Sandager P, Vogel I.

Ultrasound Obstet Gynecol. 2019 Apr 2. doi: 10.1002/uog.20281. [Epub ahead of print]

PMID:
30937994
12.

POLE Score: a comprehensive profiling of programmed death 1 ligand 1 expression in pancreatic ductal adenocarcinoma.

Rahn S, Krüger S, Mennrich R, Goebel L, Wesch D, Oberg HH, Vogel I, Ebsen M, Röcken C, Helm O, Sebens S.

Oncotarget. 2019 Feb 22;10(16):1572-1588. doi: 10.18632/oncotarget.26705. eCollection 2019 Feb 22.

13.

Receiving a prenatal diagnosis of Down syndrome by phone: a qualitative study of the experiences of pregnant couples.

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

BMJ Open. 2019 Mar 13;9(3):e026825. doi: 10.1136/bmjopen-2018-026825.

14.

Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms.

Schafmayer C, Harrison JW, Buch S, Lange C, Reichert MC, Hofer P, Cossais F, Kupcinskas J, von Schönfels W, Schniewind B, Kruis W, Tepel J, Zobel M, Rosendahl J, Jacobi T, Walther-Berends A, Schroeder M, Vogel I, Sergeev P, Boedeker H, Hinrichsen H, Volk A, Erk JU, Burmeister G, Hendricks A, Hinz S, Wolff S, Böttner M, Wood AR, Tyrrell J, Beaumont RN, Langheinrich M, Kucharzik T, Brezina S, Huber-Schönauer U, Pietsch L, Noack LS, Brosch M, Herrmann A, Thangapandi RV, Schimming HW, Zeissig S, Palm S, Focke G, Andreasson A, Schmidt PT, Weitz J, Krawczak M, Völzke H, Leeb G, Michl P, Lieb W, Grützmann R, Franke A, Lammert F, Becker T, Kupcinskas L, D'Amato M, Wedel T, Datz C, Gsur A, Weedon MN, Hampe J.

Gut. 2019 May;68(5):854-865. doi: 10.1136/gutjnl-2018-317619. Epub 2019 Jan 19.

PMID:
30661054
15.

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.

16.

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.

17.

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. 2019;45(5):353-356. doi: 10.1159/000492028. Epub 2018 Sep 10.

18.

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. 2019;45(6):424-429. doi: 10.1159/000492152. Epub 2018 Sep 10.

PMID:
30199859
19.

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. 2019 Feb;62(2):129-136. doi: 10.1016/j.ejmg.2018.06.014. Epub 2018 Jun 27.

PMID:
29959045
20.

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.

21.

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
22.

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
23.

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.

24.

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
25.

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.

26.

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. 2019 Jul;53(6):449-456. doi: 10.1097/MCG.0000000000001011.

PMID:
29517710
27.

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.

28.

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
29.

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.

30.

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
31.

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.

32.

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.

33.

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
34.

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.

35.

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
36.

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.

37.

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.

38.

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
39.

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.

40.

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 Sep;11(9):705-710. doi: 10.2217/bmm-2017-0055. Epub 2017 Jun 15. No abstract available.

41.

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
42.

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.

43.

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.

44.

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.

45.

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.

46.

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
47.

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
48.

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
49.

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.

50.

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

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