Publications 2013

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Wi1-publications

Abdelmalik N, van Haelst M, Mancini G, Schrander-Stumpel C, Marcus-Soekarman D, Hennekam R, Cobben JM. Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders. Am J Med Genet A. 2013 Feb;161A(2):254-60. IF: 2.391

Adham M, Greijer AE, Verkuijlen SA, Juwana H, Fleig S, Rachmadi L, Malik O, Kurniawan A, Roezin A, Gondhowiardjo S, Atmakusumah D, Stevens SJ, Hermani B, Tan IB, Middeldorp JM. EPSTEIN-BARR VIRUS DNA LOAD IN NASOPHARYNGEAL BRUSHINGS AND WHOLE BLOOD IN NASOPHARYNGEAL CARCINOMA PATIENTS BEFORE AND AFTER TREATMENT. Clin Cancer Res. 2013 Apr 15;19(8):2175-86.  IF:

Braam W., Keijzer H., Struijker Boudier H., Didden R., Smits M.,Curfs L. (2012). CYP1A2 polymorphisms in slow melatonin metabolisers: a possible relationship with autism spectrum disorder? Journal of Intellectual Disability Research  2013 Nov;57(11):993-1000. IF: 1.877

Brandao RD, van Roozendaal K, Tserpelis D, Blok MJ. FMR1 low sub-genotype does not rescue BRCA1/2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA1/2-carriers. Hum Reprod. 2013 Aug;28(8):2308-11. IF:

Brandao RD, Veeck J, Van de Vijver KK, Lindsey P, de Vries B, van Elssen CH, Blok MJ, Keymeulen K, Ayoubi T, Smeets HJ, Tjan-Heijnen VC, Hupperets PS. A randomised controlled phase II trial of pre-operative celecoxib treatment reveals anti-tumour transcriptional response in primary breast cancer. Breast Cancer Res. 2013 Apr 8;15(2):R29 IF: 5.872

Cabala M, Stevens SJ, Smigiel R. A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature. Clin Dysmorphol. 2013 Jul 16. [Epub ahead of print]

Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, Yalcinkaya C, Frints SG, Kalscheuer VM, Klooster J, Kamermans M, Abbink TE, Wolf NI, Sedel F, van der Knaap MS. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol. 2013 Jul;12(7):659-68.

Die de-Smulders CE, de Wert GM, Liebaers I, Tibben A, Evers-Kiebooms G. Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections. Hum Reprod Update. 2013 May-Jun;19(3):304-15. IF: 9.234

Drüsedau M, Dreesen JC, Derks-Smeets I, Coonen E, van Golde R, van Echten-Arends J, Kastrop PM, Blok MJ, Gomez-García E, Geraedts JP, Smeets HJ, de Die-Smulders CE, Paulussen AD. PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers. Eur J Hum Genet. 2013 Mar 27;. [Epub ahead of print] IF: 4.319

Duursen MB van, Smeets EE, Rijk JC, Nijmeijer SM, van den Berg M. Phytoestrogens in menopausal supplements induce ER-dependent cell proliferation and overcome breast cancer treatment in an in vitro breast cancer model. Toxicol Appl Pharmacol. 2013 Jun 1;269(2):132-40. IF:

Van Echten-Arends J, Coonen E, Reuters B, Suijkerbuijk RF, Dul EC, Land JA, van Ravenswaaij-Arts CM. Preimplantation genetic diagnosis for X;autosome translocations: lessons from a case of misdiagnosis. Hum Reprod. 2013 Sep 18;. [Epub ahead of print] IF:

Engelen K van, Postma AV, van de Meerakker JB, Roos-Hesselink JW, Helderman-van den Enden AT, Vliegen HW, Rahman T, Baars MJ, Sels JW, Bauer U, Pickardt T, Sperling SR,   Moorman AF, Keavney B, Goodship J, Klaassen S, Mulder BJ. Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7. Neth Heart J. 2013  Mar;21(3):113-7. IF: 1.392

Equit M., Piro-Hussong A., Niemczyk J., Curfs L., von Gontard A. Elimination disorders in persons with prader-willi and fragile x-syndromes 2013 Sep;32(7):986-92. IF: 2.96

Erven B van, Gubbels CS, van Golde RJ, Dunselman GA, Derhaag JG, de Wert G, Geraedts JP, Bosch AM, Treacy EP, Welt CK, Berry GT, Rubio-Gozalbo ME. Fertility preservation in female classic galactosemia patients. Orphanet J Rare Dis. 2013 Jul 16;8:107. IF:

Gerards M, Kamps R, Vanoevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain. 2013 Mar;136(Pt 3):882-90. IF: 9.915

Greijer AE, Stevens SJ, Verkuijlen SA, Juwana H, Fleig SC, Verschuuren EA, Hepkema BG, Cornelissen JJ, Brooimans RA, Verdonck LF, Middeldorp JM. Related Articles Variable EBV DNA Load Distributions and Heterogeneous EBV mRNA Expression Patterns in the Circulation of Solid Organ versus Stem Cell Transplant Recipients. Clin Dev Immunol. 2012;2012:543085. IF: 1.838

Groeneweg JA, van der Zwaag PA, Olde Nordkamp LR, Bikker H, Jongbloed JD, Jongbloed R, Wiesfeld AC, Cox MG, van der Heijden JF, Atsma DE, de Boer K, Doevendans PA, Vink A, van Veen TA, Dooijes D, van den Berg MP, Wilde AA, van Tintelen JP, Hauer RN. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy According to Revised 2010 Task Force Criteria With Inclusion of Non-Desmosomal Phospholamban Mutation Carriers. Am J Cardiol. 2013 Oct 15;112(8):1197-1206. IF:

Gubbels CS, Land JA, Evers JL, Bierau J, Menheere PP, Robben SG, Rubio-Gozalbo ME. Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion. J Inherit Metab Dis. 2013 Jan;36(1):29-34. IF: 2.691

Gubbels CS, Welt CK, Dumoulin JC, Robben SG, Gordon CM, Dunselman GA, Rubio-Gozalbo ME, Berry GT. The male reproductive system in classic galactosemia: cryptorchidism and low semen volume. J Inherit Metab Dis. 2013 Sep;36(5):779-86. IF: 3.577

Habets DD, Schaper NC, Rogozinski H, van Spronsen FJ, van Rijn M, Bierau J, Bakker JA. Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic Decompensation. JIMD Rep. 2012;3:83-9. IF: 3.577

Halbach NS, Smeets EE, Bierau J, Keularts IM, Plasqui G, Julu PO, Engerström IW, Bakker JA, Curfs LM. Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome. JIMD Rep. 2012;3:117-24. IF: 3.577

Halbach NS, Smeets EE, van den Braak N, van Roozendaal KE, Blok RM, Schrander-Stumpel CT, Frijns JP, Maaskant MA, Curfs LM. Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.  Am J Med Genet A. 2012 Feb;158A(2):340-50. IF:

Halbach NS, Smeets EE, Schrander-Stumpel CT, van Schrojenstein Lantman de Valk HH, Maaskant MA, Curfs LM. Aging in people with specific genetic syndromes: Rett syndrome. Am J Med Genet A. 2008 Aug 1;146A(15):1925-32. IF:

Hamer HM, Wall BT, Kiskini A, de Lange A, Groen BB, Bakker JA, Gijsen AP, Verdijk LB, van Loon LJ. Carbohydrate co-ingestion with protein does not further augment post-prandial muscle protein accretion in older men. Nutr Metab (Lond). 2013 Jan 25;10(1):15. IF: 2.885

Helderman-van den Enden AT, Madan K, Breuning MH, van der Hout AH, Bakker E, de Die-Smulders CE, Ginjaar HB. An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy. Eur J Hum Genet. 2013 Jan;21(1):21-6. IF: 4.400

Hermans MC, Merkies IS, Laberge L, Blom EW, Tennant A, Faber CG.  Fatigue and daytime sleepiness scale in myotonic dystrophy type 1. Muscle Nerve. 2013 Jan;47(1):89-95. IF: 2.367

Herps MA, Buntinx WHE, Curfs LMG. Individual support planning: perceptions and expectations of people with intellectual disabilities in the Netherlands. Journal of Intellectual Disability Research 2013 Nov;57(11):1027-36. IF: 1.877

Houben F, De Vos WH, Krapels IP, Coorens M, Kierkels GJ, Kamps MA, Verstraeten VL, Marcelis CL, van den Wijngaard A, Ramaekers FC, Broers JL. Cytoplasmic localization of PML particles in laminopathies. Histochem Cell Biol. 2013 Jan;139(1):119-34. IF: 2.588

Huang J, Yang Y, Zhao P, Gerrits MM, Hoeijmakers JG, Bekelaar K, Merkies IS, Faber CG, Dib-Hajj SD, Waxman SG. Small-Fiber Neuropathy Nav1.8 Mutation Shifts Activation to Hyperpolarized Potentials and Increases Excitability of Dorsal Root Ganglion Neurons. J Neurosci. 2013 Aug 28;33(35):14087-14097. IF:

Jong A, de Dondorp WJ, Macville MV, de Die-Smulders CE, van Lith JM, de Wert GM. Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection. Hum Genet. 2013 Sep 28;. [Epub ahead of print]  IF:

Keularts IM, Leroy PL, Rubio-Gozalbo EM, Spaapen LJ, Weber B, Dorland B, de Koning TJ, Verhoeven-Duif NM. Fatal cerebral edema associated with serine deficiency in CSF. J Inherit Metab Dis. 2010 Mar 19;. [Epub ahead of print]  IF 2.691

Kiskini A, Hamer HM, Wall BT, Groen BB, de Lange A, Bakker JA, Senden JM, Verdijk LB, van Loon LJ.  The muscle protein synthetic response to the combined ingestion of protein and carbohydrate is not impaired in healthy older men. Age (Dordr). 2013 Mar 26;. [Epub ahead of print]  IF:

Lange J, Noordam MJ, van Daalen SK, Skaletsky H, Clark BA, Macville MV, Page DC, Repping S. Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms. Genomics. 2013 May 2;. [Epub ahead of print]  IF:

Lehmann B.A., Bos A.E., Rijken M., Cardol M., Peters G.J., Kok G., Curfs L.M. Ageing with an intellectual disability: the impact of personal resources on well-being. Journal of Intellectual Disability Research 2013 Nov;57(11):1068-78.  IF: 1.877

Luijten MN, Basten SG, Claessens T, Vernooij M, Scott CL, Janssen R, Easton JA, Kamps MA, Vreeburg M, Broers JL, van Geel M, Menko FH, Harbottle RP, Nookala RK, Tee AR, Land SC, Giles R, Coull BJ, van Steensel MA. Birt-Hogg-Dube syndrome is a novel ciliopathy. Hum Mol Genet. 2013 Jun 19;. [Epub ahead of print] IF:

Mersy E, Smits LJ, van Winden LA, de Die-Smulders CE, Paulussen AD, Macville MV, Coumans AB, Frints SG. Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012. Hum Reprod Update. 2013 Jul-Aug;19(4):318-29. IF: 9.234

Nelissen EC, Van Montfoort AP, Smits LJ, Menheere PP, Evers JL, Coonen E, Derhaag JG, Peeters LL, Coumans AB, Dumoulin JC. IVF culture medium affects human intrauterine growth as early as the second trimester of pregnancy. Hum Reprod. 2013 Aug;28(8):2067-74. IF:

Renard M, Callewaert B, Baetens M, Campens L, Macdermot K, Fryns JP, Bonduelle M, Dietz HC, Gaspar IM, Cavaco D, Stattin EL, Schrander-Stumpel C, Coucke P, Loeys B, De Paepe A, De Backer J. Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. Int J Cardiol. 2013 May 10;165(2):314-21. IF: 6.802.

Rij MC van, de Koning Gans PA, van Belzen MJ, Roos RA, Geraedts JP, Rademaeker MD, Bijlsma EK, de Die-Smulders CE. The uptake and outcome of prenatal and preimplantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008). Clin Genet. 2013 Jan 25;. [Epub ahead of print] IF: 3.128

Rij MC van, de Koning Gans PA, Aalfs CM, Elting M, Ippel PF, Maat-Kievit JA, Vermeer S, Verschuuren-Bemelmans CC, van Belzen MJ, Belfroid RD, Losekoot M, Geraedts JP, Roos RA, Tibben A, de Die-Smulders CE, Bijlsma EK. Prenatal testing for Huntington's disease in The Netherlands from 1998 to 2008. Clin Genet. 2013 Jan 25;. [Epub ahead of print] IF: 3.128

Rij MC van, de Die-Smulders CE, Bijlsma EK, de Wert GM, Geraedts JP, Roos RA, Tibben A. Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands. Clin Genet. 2013 Feb;83(2):118-124. IF: 3.128

Rodenburg RJ, Schoonderwoerd GC, Tiranti V, Taylor RW, Rötig A, Valente L, Invernizzi F, Chretien D, He L, Backx GP, Janssen KJ, Chinnery PF, Smeets HJ, de Coo IF, van den Heuvel LP. A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders. Mitochondrion. 2013 Jan;13(1):36-43.  IF: 3.615

Sallevelt SC, Dreesen JC, Drüsedau M, Spierts S, Coonen E, van Tienen FH, van Golde RJ, de Coo IF, Geraedts JP, de Die-Smulders CE, Smeets HJ. Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success. J Med Genet. 2013 Feb;50(2):125-32. IF: 6.365

Schaafsma D, Stoffelen JMT, Kok G & Curfs LMG.  Exploring the development of existing sex education programmes for people with intellectual disabilities; an intervention mapping approach. Journal of Applied Research in Intellectual Disabilities 2013;26(2), 157-66. IF:

Sinnema M, Maaskant MA, van Schrojenstein Lantman-de Valk HM, Boer H, Curfs LM, Schrander-Stumpel CT.  The use of medical care and the prevalence of serious illness in an adult Prader-Willi syndrome cohort. Eur J Med Genet. 2013 Aug;56(8):397-403. IF:

Steinbusch CV, van Roozendaal KE, Tserpelis D, Smeets EE, Kranenburg-de Koning TJ, de Waal KH, Zweier C, Rauch A, Hennekam RC, Blok MJ, Schrander-Stumpel CT. Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. Clin Genet. 2013 Jan;83(1):73-77. IF: 2.942

Stoffelen JMT, Kok G, Hospers H, Curfs LMG. Homosexuality among people with a mild intellectual disability: an explorative study on the lived experiences of homosexual people in the Netherlands with a mild intellectual disability. Journal of Intellectual Disability Research 2013  March: 57(3):257–267. IF: 1.877

Tamiello C, Baaijens FP, Broers JL, Kamps MA, van den Wijngaard A, Verstraeten VL, Bouten CC. Soft substrates normalize nuclear morphology and prevent fibroblasts from a laminopathy patient with compound heterozygous LMNA mutations. Nucleus. 2013 Jan 1;4(1). IF: 2013 Still Computing

Verhagen JM, Schrander-Stumpel CT, Blezer MM, Weber JW, Schrander JJ, Rubio-Gozalbo ME, Bakker JA, Stegmann AP, Vos YJ, Frints SG.  Adducted thumbs: a clinical clue to genetic diagnosis. Eur J Med Genet. 2013 Mar;56(3):153-8. IF: 1.879

Vermeiren AP, Bosma H, Gielen M, Lindsey PJ, Derom C, Vlietinck R, Loos RJ, Zeegers MP. Do genetic factors contribute to the relation between education and metabolic risk factors in young adults? A twin study. Eur J Public Health. 2012 Dec 7;. [Epub ahead of print] IF: 3.095

Vreeburg M, Sallevelt SC, Stegmann AP, van Geel M, Detisch YJ, Schrander-Stumpel CT, van Steensel MA, Marcus-Soekarman D. Cutaneous clues for diagnosing X-chromosomal disorders. Clin Genet. 2013 Apr 11;. [Epub ahead of print] IF:

Wagemans A., van Schrojenstein Lantman- de Valk H., Proot I., Metsemakers J., Tuffrey-Wijne I., Curfs L. The factors affecting end-of-life decision-making by physicians of patients with intellectual disabilities in the Netherlands; a qualitative study. Journal of Intellectual Disability Research 2013 Apr;57(4):380-389. IF: 1.877

Wier B van de, Balk JM, Haenen GR, Giamouridis D, Bakker JA, Bast BC, den Hartog GJ, Koek GH, Bast A. Elevated citrate levels in nonalcoholic fatty liver disease: The potential of citrate to promote radical production. FEBS Lett. 2013 Aug 2;587(15):2461-6. IF:

Wong DR, Pierik M, Seinen ML, van Bodegraven AA, Gilissen LP, Bus P, Bakker JA, Masclee AA, Neef C, Engels LG, Hooymans PM. The pharmacokinetic effect of adalimumab on thiopurine metabolism in Crohn's disease patients. J Crohns Colitis. 2013 Aug 6;. [Epub ahead of print]  IF:

 


BOOKS

 

Publicaties in Nederlandse Tijdschriften



PhD thesis

 

 

 

Publications 2012