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Items: 50

1.

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.

van de Putte R, van Rooij IALM, Marcelis CLM, Guo M, Brunner HG, Addor MC, Cavero-Carbonell C, Dias CM, Draper ES, Etxebarriarteun L, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Kurinczuk JJ, Lanzoni M, Latos-Bielenska A, Luyt K, O'Mahony MT, Miller N, Mullaney C, Nelen V, Neville AJ, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wiesel A, Zymak-Zakutnia N, Loane M, Barisic I, de Walle HEK, Roeleveld N, Bergman JEH.

Pediatr Res. 2019 Sep 9. doi: 10.1038/s41390-019-0561-y. [Epub ahead of print]

PMID:
31499513
2.

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study.

Santoro M, Coi A, Barišić I, Garne E, Addor MC, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Kinsner-Ovaskainen A, Klungsøyr K, Kurinczuk JJ, Lelong N, Luyt K, Materna-Kiryluk A, Mokoroa O, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Yevtushok L, Pierini A.

Neuroepidemiology. 2019 Jul 12:1-11. doi: 10.1159/000501238. [Epub ahead of print]

PMID:
31302658
3.

Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980-2010.

Yu X, Nassar N, Mastroiacovo P, Canfield M, Groisman B, Bermejo-Sánchez E, Ritvanen A, Kiuru-Kuhlefelt S, Benavides A, Sipek A, Pierini A, Bianchi F, Källén K, Gatt M, Morgan M, Tucker D, Canessa MA, Gajardo R, Mutchinick OM, Szabova E, Csáky-Szunyogh M, Tagliabue G, Cragan JD, Nembhard WN, Rissmann A, Goetz D, Bower C, Baynam G, Lowry RB, Leon JA, Luo W, Rouleau J, Zarante I, Fernandez N, Amar E, Dastgiri S, Contiero P, Martínez-de-Villarreal LE, Borman B, Bergman JEH, de Walle HEK, Hobbs CA, Nance AE, Agopian AJ.

Eur Urol. 2019 Oct;76(4):482-490. doi: 10.1016/j.eururo.2019.06.027. Epub 2019 Jul 9.

PMID:
31300237
4.

Epidemiology of achondroplasia: A population-based study in Europe.

Coi A, Santoro M, Garne E, Pierini A, Addor MC, Alessandri JL, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Klungsøyr K, Kurinczuk JJ, Lanzoni M, Lelong N, Luyt K, Mokoroa O, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wisniewska K, Zymak-Zakutnia N, Barišić I.

Am J Med Genet A. 2019 Sep;179(9):1791-1798. doi: 10.1002/ajmg.a.61289. Epub 2019 Jul 11.

PMID:
31294928
5.

Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study.

Bakker MK, Bergman JEH, Krikov S, Amar E, Cocchi G, Cragan J, de Walle HEK, Gatt M, Groisman B, Liu S, Nembhard WN, Pierini A, Rissmann A, Chidambarathanu S, Sipek A Jr, Szabova E, Tagliabue G, Tucker D, Mastroiacovo P, Botto LD.

BMJ Open. 2019 Jul 2;9(7):e028139. doi: 10.1136/bmjopen-2018-028139.

6.

Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study.

Morris JK, Wellesley DG, Barisic I, Addor MC, Bergman JEH, Braz P, Cavero-Carbonell C, Draper ES, Gatt M, Haeusler M, Klungsoyr K, Kurinczuk JJ, Lelong N, Luyt K, Lynch C, O'Mahony MT, Mokoroa O, Nelen V, Neville AJ, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker DF, Verellen-Dumoulin C, Wiesel A, Zymak-Zakutnia N, Lanzoni M, Garne E.

Arch Dis Child. 2019 Jun 26. pii: archdischild-2018-316733. doi: 10.1136/archdischild-2018-316733. [Epub ahead of print]

PMID:
31243007
7.

Congenital anomalies in the offspring of occupationally exposed mothers: a systematic review and meta-analysis of studies using expert assessment for occupational exposures.

Spinder N, Prins JR, Bergman JEH, Smidt N, Kromhout H, Boezen HM, de Walle HEK.

Hum Reprod. 2019 May 1;34(5):903-919. doi: 10.1093/humrep/dez033.

8.

Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study.

de Geus CM, Bergman JEH, van Ravenswaaij-Arts CMA, Meiners LC.

AJNR Am J Neuroradiol. 2018 Oct;39(10):1938-1942. doi: 10.3174/ajnr.A5810. Epub 2018 Sep 20.

9.

Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe.

Barisic I, Boban L, Akhmedzhanova D, Bergman JEH, Cavero-Carbonell C, Grinfelde I, Materna-Kiryluk A, Latos-Bieleńska A, Randrianaivo H, Zymak-Zakutnya N, Sansovic I, Lanzoni M, Morris JK.

Eur J Med Genet. 2018 Sep;61(9):499-507. doi: 10.1016/j.ejmg.2018.05.014. Epub 2018 May 31.

PMID:
29753922
10.

Trends in congenital anomalies in Europe from 1980 to 2012.

Morris JK, Springett AL, Greenlees R, Loane M, Addor MC, Arriola L, Barisic I, Bergman JEH, Csaky-Szunyogh M, Dias C, Draper ES, Garne E, Gatt M, Khoshnood B, Klungsoyr K, Lynch C, McDonnell R, Nelen V, Neville AJ, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Kurinczuk J, Tucker D, Verellen-Dumoulin C, Wellesley D, Dolk H.

PLoS One. 2018 Apr 5;13(4):e0194986. doi: 10.1371/journal.pone.0194986. eCollection 2018.

11.

Prenatal diagnosis of urinary tract anomalies, a cohort study in the Northern Netherlands.

Bakker MK, Bergman JEH, Fleurke-Rozema H, Streefland E, Gracchi V, Bilardo CM, De Walle HEK.

Prenat Diagn. 2018 Jan;38(2):130-134. doi: 10.1002/pd.5200. Epub 2018 Jan 4.

PMID:
29240244
12.

Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study.

Bergman JEH, Lutke LR, Gans ROB, Addor MC, Barisic I, Cavero-Carbonell C, Garne E, Gatt M, Klungsoyr K, Lelong N, Lynch C, Mokoroa O, Nelen V, Neville AJ, Pierini A, Randrianaivo H, Rissmann A, Tucker D, Wiesel A, Dolk H, Loane M, Bakker MK.

Drug Saf. 2018 Apr;41(4):415-427. doi: 10.1007/s40264-017-0627-x.

13.

Sinonasal quality of life after endoscopic resection of malignant sinonasal and skull base tumors.

Glicksman JT, Parasher AK, Brooks SG, Workman AD, Lambert JL, Bergman JE, Palmer JN, Adappa ND.

Laryngoscope. 2018 Apr;128(4):789-793. doi: 10.1002/lary.26833. Epub 2017 Sep 2.

PMID:
28865090
14.

Maternal occupational exposure and oral clefts in offspring.

Spinder N, Bergman JEH, Boezen HM, Vermeulen RCH, Kromhout H, de Walle HEK.

Environ Health. 2017 Aug 4;16(1):83. doi: 10.1186/s12940-017-0294-5.

15.

Prenatal exposure to serotonin reuptake inhibitors and congenital heart anomalies: an exploratory pharmacogenetics study.

Daud ANA, Bergman JEH, Kerstjens-Frederikse WS, van der Vlies P, Hak E, Berger RMF, Groen H, Wilffert B.

Pharmacogenomics. 2017 Jul;18(10):987-1001. doi: 10.2217/pgs-2017-0036. Epub 2017 Jun 22.

16.

Impact of Muscarinic M3 Receptor Antagonism on the Risk of Type 2 Diabetes in Antidepressant-Treated Patients: A Case-Controlled Study.

Tran YH, Schuiling-Veninga CCM, Bergman JEH, Groen H, Wilffert B.

CNS Drugs. 2017 Jun;31(6):483-493. doi: 10.1007/s40263-017-0436-x.

17.

Knowledge and attitude regarding pharmacogenetics among formerly pregnant women in the Netherlands and their interest in pharmacogenetic research.

Daud ANA, Bergsma EL, Bergman JEH, De Walle HEK, Kerstjens-Frederikse WS, Bijker BJ, Hak E, Wilffert B.

BMC Pregnancy Childbirth. 2017 Apr 14;17(1):120. doi: 10.1186/s12884-017-1290-z.

18.

Maternal use of drug substrates of placental transporters and the effect of transporter-mediated drug interactions on the risk of congenital anomalies.

Daud AN, Bergman JE, Oktora MP, Kerstjens-Frederikse WS, Groen H, Bos JH, Hak E, Wilffert B.

PLoS One. 2017 Mar 13;12(3):e0173530. doi: 10.1371/journal.pone.0173530. eCollection 2017.

19.

Exposure to reactive intermediate-inducing drugs during pregnancy and the incident use of psychotropic medications among children.

Tran YH, Groen H, Bergman JE, Hak E, Wilffert B.

Pharmacoepidemiol Drug Saf. 2017 Mar;26(3):265-273. doi: 10.1002/pds.4161. Epub 2017 Jan 18.

PMID:
28097730
20.

Prevalence of microcephaly in Europe: population based study.

Morris JK, Rankin J, Garne E, Loane M, Greenlees R, Addor MC, Arriola L, Barisic I, Bergman JE, Csaky-Szunyogh M, Dias C, Draper ES, Gatt M, Khoshnood B, Klungsoyr K, Kurinczuk JJ, Lynch C, McDonnell R, Nelen V, Neville AJ, O'Mahony MT, Pierini A, Randrianaivo H, Rissmann A, Tucker D, Verellen-Dumoulin C, de Walle HE, Wellesley D, Wiesel A, Dolk H.

BMJ. 2016 Sep 13;354:i4721. doi: 10.1136/bmj.i4721.

21.

The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key?

Daud AN, Bergman JE, Kerstjens-Frederikse WS, Groen H, Wilffert B.

Int J Mol Sci. 2016 Aug 13;17(8). pii: E1333. doi: 10.3390/ijms17081333. Review.

22.

When the right (Drug) should be left: Prenatal drug exposure and heterotaxy syndrome.

van Veenendaal NR, Kusters CD, Oostra RJ, Bergman JE, Cobben JM.

Birth Defects Res A Clin Mol Teratol. 2016 Jul;106(7):573-9. doi: 10.1002/bdra.23497. Epub 2016 Mar 15.

PMID:
26991659
23.

Folic acid supplementation influences the distribution of neural tube defect subtypes: A registry-based study.

Bergman JE, Otten E, Verheij JB, de Walle HE.

Reprod Toxicol. 2016 Jan;59:96-100. doi: 10.1016/j.reprotox.2015.11.007. Epub 2015 Nov 25.

PMID:
26627544
24.

Are congenital urinary tract and genital organ anomalies related to folic acid?

Blom F, Bergman JE, de Walle HE.

Eur Urol. 2016 Mar;69(3):544-6. doi: 10.1016/j.eururo.2015.11.006. Epub 2015 Nov 21. No abstract available.

PMID:
26614550
25.

P-Glycoprotein-Mediated Drug Interactions in Pregnancy and Changes in the Risk of Congenital Anomalies: A Case-Reference Study.

Daud AN, Bergman JE, Bakker MK, Wang H, Kerstjens-Frederikse WS, de Walle HE, Groen H, Bos JH, Hak E, Wilffert B.

Drug Saf. 2015 Jul;38(7):651-9. doi: 10.1007/s40264-015-0299-3.

26.

Epidemiology of hypospadias in Europe: a registry-based study.

Bergman JE, Loane M, Vrijheid M, Pierini A, Nijman RJ, Addor MC, Barisic I, Béres J, Braz P, Budd J, Delaney V, Gatt M, Khoshnood B, Klungsøyr K, Martos C, Mullaney C, Nelen V, Neville AJ, O'Mahony M, Queisser-Luft A, Randrianaivo H, Rissmann A, Rounding C, Tucker D, Wellesley D, Zymak-Zakutnia N, Bakker MK, de Walle HE.

World J Urol. 2015 Dec;33(12):2159-67. doi: 10.1007/s00345-015-1507-6. Epub 2015 Feb 25.

27.

Congenital anomalies in offspring of subfertile couples: a registry-based study in the northern Netherlands.

Seggers J, de Walle HE, Bergman JE, Groen H, Hadders-Algra M, Bos ME, Hoek A, Haadsma ML.

Fertil Steril. 2015 Apr;103(4):1001-1010.e3. doi: 10.1016/j.fertnstert.2014.12.113. Epub 2015 Jan 24.

PMID:
25624190
28.

Holt Oram syndrome: a registry-based study in Europe.

Barisic I, Boban L, Greenlees R, Garne E, Wellesley D, Calzolari E, Addor MC, Arriola L, Bergman JE, Braz P, Budd JL, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, McDonnell B, Nelen V, Pierini A, Queisser-Wahrendorf A, Rankin J, Rissmann A, Rounding C, Tucker D, Verellen-Dumoulin C, Dolk H.

Orphanet J Rare Dis. 2014 Oct 25;9:156. doi: 10.1186/s13023-014-0156-y.

29.

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C.

Eur J Hum Genet. 2015 Jun;23(6):746-52. doi: 10.1038/ejhg.2014.174. Epub 2014 Sep 3.

30.

Pharmacogenetics of drug-induced birth defects: the role of polymorphisms of placental transporter proteins.

Daud AN, Bergman JE, Bakker MK, Wang H, de Walle HE, Plösch T, Wilffert B.

Pharmacogenomics. 2014 May;15(7):1029-41. doi: 10.2217/pgs.14.62. Review.

PMID:
24956255
31.

Impact of introduction of 20-week ultrasound scan on prevalence and fetal and neonatal outcomes in cases of selected severe congenital heart defects in The Netherlands.

Baardman ME, du Marchie Sarvaas GJ, de Walle HE, Fleurke-Rozema H, Snijders R, Ebels T, Bergman JE, Bilardo CM, Berger RM, Bakker MK.

Ultrasound Obstet Gynecol. 2014 Jul;44(1):58-63. doi: 10.1002/uog.13269. Epub 2014 Jun 11.

32.

Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.

Aalberts JJ, van Tintelen JP, Oomen T, Bergman JE, Halley DJ, Jongbloed JD, Suurmeijer AJ, van den Berg MP.

Am J Med Genet A. 2014 Jan;164A(1):113-9. doi: 10.1002/ajmg.a.36211. Epub 2013 Nov 15.

PMID:
24243761
33.

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study.

Vasluian E, van der Sluis CK, van Essen AJ, Bergman JE, Dijkstra PU, Reinders-Messelink HA, de Walle HE.

BMC Musculoskelet Disord. 2013 Nov 16;14:323. doi: 10.1186/1471-2474-14-323.

34.

The cardiac phenotype in patients with a CHD7 mutation.

Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L.

Circ Cardiovasc Genet. 2013 Jun;6(3):248-54.

PMID:
23677905
35.

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

Bergman JE, Janssen N, van der Sloot AM, de Walle HE, Schoots J, Rendtorff ND, Tranebjaerg L, Hoefsloot LH, van Ravenswaaij-Arts CM, Hofstra RM.

Hum Mutat. 2012 Aug;33(8):1251-60. doi: 10.1002/humu.22106. Epub 2012 May 11.

PMID:
22539353
36.

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH.

Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Review.

PMID:
22461308
37.

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.

Bergman JE, de Ronde W, Jongmans MC, Wolffenbuttel BH, Drop SL, Hermus A, Bocca G, Hoefsloot LH, van Ravenswaaij-Arts CM.

J Clin Endocrinol Metab. 2012 May;97(5):E858-62. doi: 10.1210/jc.2011-2652. Epub 2012 Mar 7.

PMID:
22399515
38.

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM.

J Med Genet. 2011 May;48(5):334-42. doi: 10.1136/jmg.2010.087106. Epub 2011 Mar 4. Review.

PMID:
21378379
39.

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

Bergman JE, Bocca G, Hoefsloot LH, Meiners LC, van Ravenswaaij-Arts CM.

J Pediatr. 2011 Mar;158(3):474-9. doi: 10.1016/j.jpeds.2010.08.032.

PMID:
20884005
40.

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Morava E, Wevers RA, Cantagrel V, Hoefsloot LH, Al-Gazali L, Schoots J, van Rooij A, Huijben K, van Ravenswaaij-Arts CM, Jongmans MC, Sykut-Cegielska J, Hoffmann GF, Bluemel P, Adamowicz M, van Reeuwijk J, Ng BG, Bergman JE, van Bokhoven H, Körner C, Babovic-Vuksanovic D, Willemsen MA, Gleeson JG, Lehle L, de Brouwer AP, Lefeber DJ.

Brain. 2010 Nov;133(11):3210-20. doi: 10.1093/brain/awq261. Epub 2010 Sep 17.

41.

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome.

Batsukh T, Pieper L, Koszucka AM, von Velsen N, Hoyer-Fender S, Elbracht M, Bergman JE, Hoefsloot LH, Pauli S.

Hum Mol Genet. 2010 Jul 15;19(14):2858-66. doi: 10.1093/hmg/ddq189. Epub 2010 May 7.

PMID:
20453063
42.

Death in CHARGE syndrome after the neonatal period.

Bergman JE, Blake KD, Bakker MK, du Marchie Sarvaas GJ, Free RH, van Ravenswaaij-Arts CM.

Clin Genet. 2010 Mar;77(3):232-40. doi: 10.1111/j.1399-0004.2009.01334.x.

PMID:
20447140
43.

Study of smell and reproductive organs in a mouse model for CHARGE syndrome.

Bergman JE, Bosman EA, van Ravenswaaij-Arts CM, Steel KP.

Eur J Hum Genet. 2010 Feb;18(2):171-7. doi: 10.1038/ejhg.2009.158. Epub 2009 Oct 7.

44.

Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics.

Wulffaert J, Scholte EM, Dijkxhoorn YM, Bergman JE, van Ravenswaaij-Arts CM, van Berckelaer-Onnes IA.

J Dev Phys Disabil. 2009 Aug;21(4):301-313. Epub 2009 Jun 23.

45.

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.

Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF Jr, Hoefsloot LH.

Clin Genet. 2009 Jan;75(1):65-71. doi: 10.1111/j.1399-0004.2008.01107.x. Epub 2008 Nov 17.

46.

The many faces of aggressive aortic pathology: Loeys-Dietz syndrome.

Aalberts JJ, van den Berg MP, Bergman JE, du Marchie Sarvaas GJ, Post JG, van Unen H, Pals G, Boonstra PW, van Tintelen JP.

Neth Heart J. 2008 Sep;16(9):299-304.

47.

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

Bergman JE, de Wijs I, Jongmans MC, Admiraal RJ, Hoefsloot LH, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2008 Sep-Oct;51(5):417-25. doi: 10.1016/j.ejmg.2008.03.003. Epub 2008 Apr 4.

PMID:
18472328
48.

Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.

Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, van Tintelen JP.

Eur J Med Genet. 2007 Sep-Oct;50(5):355-66. Epub 2007 Jul 15.

PMID:
17720647
49.

Prospects for lunar satellite detection of radio pulses from ultrahigh energy neutrinos interacting with the moon.

Stål O, Bergman JE, Thidé B, Daldorff LK, Ingelman G.

Phys Rev Lett. 2007 Feb 16;98(7):071103. Epub 2007 Feb 14.

PMID:
17359013
50.

Modulation of chronic enteric infection by distant oral infection.

Bergman JE, Arnold RR, Trope M, Offenbacher S.

J Endod. 1999 Nov;25(11):747-51.

PMID:
10726543

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