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Items: 1 to 50 of 260

1.

Second-trimester fetal head circumference in >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 Jun 20. doi: 10.1002/pd.5504. [Epub ahead of print]

PMID:
31218719
2.

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
3.

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.

PMID:
31079897
4.

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.

5.

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. pii: S1769-7212(18)30827-9. doi: 10.1016/j.ejmg.2019.04.007. [Epub ahead of print]

PMID:
30980954
6.

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
7.

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.

8.

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.

9.

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
10.

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.

11.

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.

12.

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.

13.

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
14.

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
15.

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
16.

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
17.

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
18.

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.

19.

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
20.

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.

21.

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
22.

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.

23.

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
24.

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.

25.

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
26.

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.

27.

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.

28.

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
29.

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.

30.

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
31.

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.

32.

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.

33.

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
34.

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.

35.

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.

36.

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
37.

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.

38.

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.

39.

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.

40.

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.

41.

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
42.

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
43.

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
44.

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.

45.

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
46.

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.

47.

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
48.

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
49.

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.

50.

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.

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