References

References

2019



      1. 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. Is MED13L-related intellectual disability a recognizable syndrome? Eur J Med Genet. Volume 62, Issue 2, February 2019, Pages 129-136.
      2. Lou S, Carstensen K, Vogel I, Hvidman L, Nielsen CP, Lanther M, Petersen OB. Receiving a prenatal diagnosis of Down syndrome by phone: a qualitative study of the experiences of pregnant couples. BMJ Open. 2019 Mar 13;9(3):e026825. doi: 10.1136/bmjopen-2018-026825. PMID:30867204
      3. Nørgaard MS, Mogra R, Pinner J, Kagan KO, Jørgensen MJ, Gjørup V, Petersen OB, Sandager P, Vogel I. Fetal Costello syndrome – a description of the phenotype of HRAS Exon 1 mutations. Ultrasound Obstet Gynecol. 2019 Apr 2. doi: 10.1002/uog.20281. PMID: 30937994
      4. 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. Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations. Eur J Med Genet. 2019 Apr 11. pii: S1769-7212(18)30827-9. doi: 10.1016/j.ejmg.2019.04.007.
      5. Lund N, Sandager P, Leonhard AK, Vogel I, Petersen OB. Second-trimester fetal head circumference in >350.000 pregnancies: Outcome and suggestion for sex-dependent cutoffs for small heads. Prenat Diagn. 2019 Sep;39(10):910-920. doi: 10.1002/pd.5504. Epub 2019 Jul 25. PMID: 31218719
      6. Bendixen M, Meehan C, Hall VJ, Vogel I. Denmarks exemplary gender balance trips up in science. NATURE. 2019 AUG;572(7768):178. DOI: 10.1038/D41586-019-02369-Y. NO ABSTRACT AVAILABLE. PMID: 31388160
      7. 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. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. PMID: 310798972018



2018

  1. Lou S, Petersen OB, Jørgensen FS, Lund ICB, Kjærgaard S, Danish Central Cytogenetic Registry study group, Vogel I. National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in the period 1973-2016 in Denmark. Acta Obstet Gynecol Scand. 2018 Feb;97(2):195-203. doi: 10.1111/aogs.13273.
  2. L Aamann, N Ørntoft, I Vogel, H Grønbæk, H Vilstrup, P Ott, DL Lildballe. Unexplained cholestasis in adults: Diagnostic benefit of genetic examination. Scand J Gastroenterol. 2018 Jan 5:1-7. doi: 10.1080/00365521.2017.1422800.
  3. Bodin CR, Rasmussen MM, Tabor A, Ekelund CK, Wulff CB , Westbom L, Tiblad E, Vogel I, Petersen O. Ultrasound in prenatal diagnostics and its impact on the epidemiology of spina bifida in a national cohort from Denmark with a comparison to Sweden. Accepted Translational and Emerging Clinical Applications of Medical Ultrasound
  4. Rasmussen MB, M Mehrjouy, Bak M, Hansen C, Nazaryan-Petersen L, Kjærgaard S, Vogel I, Jensen PKA, Brøndum-Nielsen K, Tümer Z, Bojesen A, Fagerberg C, Halgren C, Bache I, Tommerup N.. Variable genetic and phenotypic loads in inversion families ascertained by affected or unaffected probands. Accepted Human Molecular Genetics.
  5. Huijsdens-van Amsterdam K, Page-Christiaens L, Flowers N, Bonifacio MD, Battese Ellis KM, Vogel I, Vestergaard EM, Miguelez J, Burlacchini de Carvalho MH, Sistermans EA, Pertile MD.Isochromosome 21q and false-negative NIPT results. Eur J Hum Genet. 2018 Oct;26(10):1490-1496. doi: 10.1038/s41431-018-0188-1. PMID: 29899373
  6. Lund ICB, Becher N, Petersen OB, Hill M, Chitty L, Vogel I. Preferences for prenatal testing among pregnant women, partners and health professionals: A discrete choice experiment in two Danish regions. Dan Med J. 2018 May;65(5). pii: A5486. PMID: 29726320
  7. Lou S, Carstensen K, Petersen OB, Nielsen CP Hvidman L, Lanther MR, Vogel I. Termination of pregnancy following a prenatal diagnosis of Down syndrome: a qualitative study of the decision-making process of pregnant couples. Acta Obstet Gynecol Scand. 2018 Oct;97(10):1228-1236. doi: 10.1111/aogs.13386. PMID: 29791717
  8. Vogel I, Petersen OB. Prenatal screening for atypical chromosomal abnormalities: past or future? Ultrasound Obstet Gynecol. 2018 Apr;51(4):434-435. doi: 10.1002/uog.19030.
  9. Vogel I, Lund N, Rasmussen S, Kopp TI, Petersen OB. Algorithm for sorting chromosomal aberration data. Ultrasound Obstet Gynecol. 2018 Apr;51(4):557-558. doi: 10.1002/uog.18944.
  10. Srebniak MI, Vogel I, van Opstal D, Is carriership of a balanced translocation or inversion an indication for NIPT? Expert Rev Mol Diagn. 2018 Jun;18(6):477-479. doi: 10.1080/14737159.2018.1468255. Epub 2018 Apr 26. PMID: 29676188
  11. Laursen RJ, Alsbjerg B, Vogel I, Gravholt C, Elbaek H, Lildballe D, Humaidan P, Vestergaard EM. Case of successful IVF treatment of a oligospermic male with 46,XX/46,XY chimerism. J Assist Reprod Genet. 2018 Jul;35(7):1325-1328. doi: 10.1007/s10815-018-1194-5. PMID: 29713857
  12. 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. Is MED13L-related intellectual disability a recognizable syndrome? Eur J Med Genet. 2018 Jun 27. pii: S1769-7212(18)30144-7. PMID:29959045
  13. I Vogel, A Tabor, C Ekelund, S Lou, J Hyett, OB Petersen. Population-based screening for trisomies and atypical chromosomal abnormalities:  Improving efficacy using the combined first trimester screening algorithm as well as individual risk parameters. Fetal Diagn Ther. 2018 Sep 10:1-6. doi: 10.1159/000492152.
  14. Kruckow S, Schelde P, Hatt L, Ravn K, Petersen OB, Uldbjerg N Vogel I, Singh R. Does maternal body mass index affect the quantity of circulating fetal cells available to use for cell based NIPT in high risk pregnancies? Fetal Diagn Ther. 2018 Sep 10:1-4. doi: 10.1159/000492028.
  15. Møller A, Vogel, I, Petersen OB, Lou S. The introduction of ‘moderate risk’ in prenatal screening for Down syndrome: a qualitative study of Danish sonographers’ experiences. Journal of Pregnancy, vol. 2018, Article ID 1646035. 2018. https://doi.org/10.1155/2018/1646035



2017


  1. Stoeve HK, Becher N, Gjørup V, Ramsing M, Vogel I, Vestergaard EM. First Reported Case of Simpson–Golabi–Behmel Syndrome in a Female Fetus Diagnosed Prenatally With Chromosomal Microarray. Clin Case Rep. 2017 Mar 17;5(5):608-612.
  2. Moosa S, Haagerup A, Gregersen PA, Petersen KK, Altmüller J, Thiele H, Nürnberg P, ChoTJ, Kim OH, Nishimura G, Wollnik B#, Vogel I# (joined last authors). Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. Am J Med Genet A. 2017 Apr;173(4):1102-1108..
  3. Moosa S, Loeys B, Altmüller J, Li Y, Nürnberg P, Wollnik B#, Vogel I# (joined last authors) Bony syndactyly in two fetuses with Smith-Lemli-Opitz syndrome: an under-recognised part of the clinical spectrum? Clin Genet. 2017 Mar 30. doi: 10.1111/cge.12990.
  4. Tanno PL, Breton I, Bidart M, Satre V, Harbuz R, Ray PF, Bosson C, Dieterich K, Jaillard S, Odent S, Poke G, Bedow R, Digilio MC, Novelli A, Bernardini L, Pisanti MA, Mackenroth L, Hackmann K, Vogel I, Christensen R, Fokstuen S, Sloan-Béna F, Amblard F, Devillard F, Vieville G, Apostolou A, Jouk P, Fitsum G, Sartelet H, Coutton C. PBX1 haploinsufficiency leads to syndromic Congenital Anomalies of Kidney and Urinary Tract (CAKUT) in human. J Med Genet. 2017 Mar 7. pii: jmedgenet-2016-104435.
  5. Lou S, Frumer M Schlutter M, Petersen OB, Vogel I, Nielsen CP. Experiences and expectations in early pregnancy: A qualitative study. Health Expect. 2017 May 18. doi: 10.1111/hex.12572
  6. Vogel I, Ott P, Lildballe D, Dutoit SH, Grønbæk H. Isolated congenital hepatic fibrosis associated with TMEM67 mutations: report of a new genotype-phenotype relationship. Clin Case Rep. 2017 May 23;5(7):1098-1102.
  7. Moosa S, Altmüller J, Christensen R, Lyngbye T, Thiele H, Nürnberg P, ChoTJ, Kim OH, Nishimura G, Vogel I#, Wollnik B# (joined last authors). Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome. In early view, Molecular Genetics & Genomic Medicine
  8. Vogel I, Christensen R, Petersen OB, Jon Hyett, Vestergaard EM. Chromosomal microarray as a primary diagnostic genomic tool for pregnancies defined as being at increased risk within a population based combined first trimester screening program. Ultrasound Obstet Gynecol. 2017 Jun 13. doi: 10.1002/uog.17548.
  9. Lou S, Jensen LG, Petersen OB, Vogel I, Hvidman L, Møller A, Nielsen CP. Parental response to severe or lethal prenatal diagnosis: a CERQual review of qualitative studies. Prenat Diagn. 2017 Jun 14. doi: 10.1002/pd.5093.
  10. Singh R, Hatt L, Ravn K, Vogel I, Petersen OB, Uldbjerg N, Schelde P. Fetal Cells in Maternal Blood for Prenatal Diagnosis – A Love Story Rekindled. Biomark Med. 2017 Jun 15. doi: 10.2217/bmm-2017-0055.
  11. Vestergaard EM, Singh R, Schelde P, Hatt L, Ravn K, Christensen R, Petersen OB, Uldbjerg N, Vogel I. On the road to replacing invasive testing with cell-based NIPT: five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement or mosaicism. Prenatal Diagnosis. 2017 Sep 7. doi: 10.1002/pd.5150
  12. Pierzchlewska MM, Robaczyk MG, and Vogel I. Induction of puberty with human chorionic gonadotropin (hCG) followed by reversal of hypogonadotropic hypogonadism in Kallmann syndrome. Endokrynol Pol. 2017 Oct 12. doi: 10.5603

    En editorial i Acta Obstetricia Gynecologica Scandinavica fra juni 2015 beskriver arbejdet med føtodatabasen (Hyett, J. The Danish Fetal Medicine Database: revealing the fruits of collaborative research. Acta Obstet Gynecol Scand. 2015;94(6):561-2).


    Ligeledes blev et arbejde vurderet til at være et mest betydningsfulde inden for området det år (Norton ME. What Is New in Prenatal Aneuploidy Screening? Best Articles From the Past Year. Obstet Gynecol. 2015;126:211-2).




    International editorials or evaluations:

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