PUBLICATIONS 2010

 

Antoniou AC, Beesley J, McGuffog L, Sinilnikova OM, Healey S, Neuhausen SL, Ding YC, Rebbeck TR, Weitzel JN, Lynch HT, Isaacs C, Ganz PA, Tomlinson G, Olopade OI, Couch FJ, Wang X, Lindor NM, Pankratz VS, Radice P, Manoukian S, Peissel B, Zaffaroni D, Barile M, Viel A, Allavena A, Dall'Olio V, Peterlongo P, Szabo CI, Zikan M, Claes K, Poppe B, Foretova L, Mai PL, Greene MH, Rennert G, Lejbkowicz F, Glendon G, Ozcelik H, Andrulis IL; Ontario Cancer Genetics Network, Thomassen M, Gerdes AM, Sunde L, Cruger D, Birk Jensen U, Caligo M, Friedman E, Kaufman B, Laitman Y, Milgrom R, Dubrovsky M, Cohen S, Borg A, Jernström H, Lindblom A, Rantala J, Stenmark-Askmalm M, Melin B; SWE-BRCA, Nathanson K, Domchek S, Jakubowska A, Lubinski J, Huzarski T, Osorio A, Lasa A, Durán M, Tejada MI, Godino J, Benitez J, Hamann U, Kriege M, Hoogerbrugge N, van der Luijt RB, van Asperen CJ, Devilee P, Meijers-Heijboer EJ, Blok MJ, Aalfs CM, Hogervorst F, Rookus M; HEBON, Cook M, Oliver C, Frost D, Conroy D, Evans DG, Lalloo F, Pichert G, Davidson R, Cole T, Cook J, Paterson J, Hodgson S, Morrison PJ, Porteous ME, Walker L, Kennedy MJ, Dorkins H, Peock S; EMBRACE, Godwin AK, Stoppa-Lyonnet D, de Pauw A, Mazoyer S, Bonadona V, Lasset C, Dreyfus H, Leroux D, Hardouin A, Berthet P, Faivre L; GEMO, Loustalot C, Noguchi T, Sobol H, Rouleau E, Nogues C, Frénay M, Vénat-Bouvet L; GEMO, Hopper JL, Daly MB, Terry MB, John EM, Buys SS, Yassin Y, Miron A, Goldgar D; Breast Cancer Family Registry, Singer CF, Dressler AC, Gschwantler-Kaulich D, Pfeiler G, Hansen TV, Jřnson L, Agnarsson BA, Kirchhoff T, Offit K, Devlin V, Dutra-Clarke A, Piedmonte M, Rodriguez GC, Wakeley K, Boggess JF, Basil J, Schwartz PE, Blank SV, Toland AE, Montagna M, Casella C, Imyanitov E, Tihomirova L, Blanco I, Lazaro C, Ramus SJ, Sucheston L, Karlan BY, Gross J, Schmutzler R, Wappenschmidt B, Engel C, Meindl A, Lochmann M, Arnold N, Heidemann S, Varon-Mateeva R, Niederacher D, Sutter C, Deissler H, Gadzicki D, Preisler-Adams S, Kast K, Schönbuchner I, Caldes T, de la Hoya M, Aittomäki K, Nevanlinna H, Simard J, Spurdle AB, Holland H, Chen X; kConFab, Platte R, Chenevix-Trench G, Easton DF; CIMBA. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res. 2010 Dec 1;70(23):9742-54. IF: 7.543.
GROW (oncologie)

Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, Sinilnikova OM, Healey S, Morrison J, Kartsonaki C, Lesnick T, Ghoussaini M, Barrowdale D; EMBRACE, Peock S, Cook M, Oliver C, Frost D, Eccles D, Evans DG, Eeles R, Izatt L, Chu C, Douglas F, Paterson J, Stoppa-Lyonnet D, Houdayer C, Mazoyer S, Giraud S, Lasset C, Remenieras A, Caron O, Hardouin A, Berthet P; GEMO Study Collaborators, Hogervorst FB, Rookus MA, Jager A, van den Ouweland A, Hoogerbrugge N, van der Luijt RB, Meijers-Heijboer H, Gómez García EB; HEBON, Devilee P, Vreeswijk MP, Lubinski J et al. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet. 2010 Oct;42(10):885-92. IF: 34.284.
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Baglietto L, Lindor NM, Dowty JG, White DM, Wagner A, Gomez Garcia EB, Vriends AH; Dutch Lynch Syndrome Study Group, Cartwright NR, Barnetson RA, Farrington SM, Tenesa A, Hampel H, Buchanan D, Arnold S, Young J, Walsh MD, Jass J, Macrae F, Antill Y, Winship IM, Giles GG, Goldblatt J, Parry S, Suthers G, Leggett B, Butz M, Aronson M, Poynter JN, Baron JA, Le Marchand L, Haile R, Gallinger S, Hopper JL, Potter J, de la Chapelle A, Vasen HF, Dunlop MG, Thibodeau SN, Jenkins MA. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst. 2010 Feb 3;102(3):193-201. IF: 14.069.
GROW (oncologie)

Bakker JA, Bierau J, Drent M. A role for ITPA variants in the clinical course of pulmonary Langerhans' cell histiocytosis? Eur Respir J. 2010 Sep;36(3):684-6. IF: 5.527.
GROW(ontwikkelingsbiologie)

Bakker JA, Schlesser P, Smeets HJ, Francois B, Bierau J.  Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:139-43 IF 2.691

Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, Anderson A, Pineda M, Ben-Zeev B, Bahi-Buisson N, Smeets E, Leonard H. Updating the profile of C-terminal MECP2 deletions in Rett syndrome. J Med Genet. 2010 Apr;47(4):242-8.  IF 5.535.
GROW (ontwikkelingsbiologie)

Bodelier AG, Masclee AA, Bakker JA, Hameeteman WH, Pierik MJ Azathioprine induced pneumonitis in a patient with ulcerative colitis. J Crohns Colitis. 2009 Dec;3(4):309-12. IF: 1.729
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Boormans EM, Birnie E, Oepkes D, Boekkooi PF, Bonsel GJ, van Lith JM, Macville MVE; Members of the MAKE study group. Individualized choice in prenatal diagnosis: the impact of karyotyping and standalone rapid aneuploidy detection on quality of life. Prenat Diagn. 2010:30:928-36. IF: 1.707.
GROW (ontwikkelingsbiologie)

Boormans EMA, Birnie E, Oepkes D, Bilardo CM, Wildschut HIJ, Creemers J, Bonsel JG, van Lith JMM, Macville MVE; on behalf of the MLPA and Karyotyping Evaluation (M.A.K.E.) Study Group. The impact of rapid aneuploidy detection (RAD) in addition to karyotyping versus karyotyping on maternal quality of life. Prenat Diagn 2010; 30:425–433. IF:1.707.
GROW (ontwikkelingsbiologie)

Boormans EMA, Birnie E, Oepkes D, Galjaard RJ, Schuring-Blom GH, van Lith JMM, Macville MVE; on behalf of the MLPA and Karyotyping Evaluation (M.A.K.E.) Study Group. Comparison of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis. Obstet Gynecol 2010;115:297. IF: 4.357.
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Braam W, Didden R, Maas AP, Korzilius H, Smits MG, Curfs LM. Melatonin decreases daytime challenging behaviour in persons with intellectual disability and chronic insomnia. J Intellect Disabil Res. 2010 Jan 1;54(1):52-9. IF 1.436.
GROW (ontwikkelingsbiologie)

Braam W, van Geijlswijk I, Keijzer H, Smits MG, Didden R, Curfs LM. Loss of response to melatonin treatment is associated with slow melatonin metabolism. J Intellect Disabil Res. 2010 Jun;54(6):547-55. IF:  1.436.
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Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Hum Mol Genet. 2010 Apr 15;19(8):1399-412. IF 7.249
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Caglayan Ahmet Okay, Servi J.C. Stevens, Jozefa C.M. Albrechts, Munis Dundar, John Engelen. New syndrome of microtia with unilateral renal agenesis and short stature. Am J Med Genet Part A. accepted.
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Caglayan AO, Engelen JJ, Ghesquiere S, Alofs M, Saatci C, Dundar M. Fluorescence in situ hybridization and single nucleotide polymorphism of a new case with inv dup del(8p). Genet Couns. 2009;20(4):333-40.  IF 0.422.
GROW (ontwikkelingsbiologie)

Castermans D, Volders K, Crepel A, Backx L, De Vos R, Freson K, Meulemans S, Vermeesch JR, Schrander-Stumpel CT, De Rijk P, Del-Favero J, Van Geet C, Van De Ven WJ, Steyaert JG, Devriendt K, Creemers JW.    
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.    Hum Mol Genet. 2010 Apr 1;19(7):1368-78.  IF  7.249
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Christiaans I, Nannenberg EA, Dooijes D, Jongbloed RJ, Michels M, Postema PG, Majoor-Krakauer D, van den Wijngaard A, Mannens MM, van Tintelen JP, van Langen IM, Wilde AA. Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. Neth Heart J. 2010 May;18(5):248-54.  IF  nog niet bekend (jong tijdschrift)
CARIM

Claessens T, Weppler SA, van Geel M, Creytens D, Vreeburg M, Wouters B, van Steensel MA. Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome. Nat Rev Urol. 2010 Oct;7(10):583-7. IF: 2.615
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Crepel A, Breckpot J, Fryns JP, De la Marche W, Steyaert J, Devriendt K, Peeters H. DISC1 duplication in two brothers with autism and mild mental retardation. Clin Genet. 2010 Apr;77(4):389-94. IF 3.206.
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Didden R, Korzilius H, Smeets E, Green VA, Lang R, Lancioni GE, Curfs LM. Communication in Individuals with Rett Syndrome: an Assessment of Forms and Functions. J Dev Phys Disabil. 2010 Apr;22(2):105-118. IF 0.616
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Dimitrov BI, de Ravel T, Van Driessche J, de Die-Smulders C, Toutain A, Vermeesch JR, Fryns JP, Devriendt K, Debeer P. Distal limb deficiencies, micrognathia syndrome (OMIM 246560) and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. J Med Genet. 2010 Feb;47(2):103-11. IF 5.713
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Dumoulin JC, Land JA, Van Montfoort AP, Nelissen EC, Coonen E, Derhaag JG, Schreurs IL, Dunselman GA, Kester AD, Geraedts JP, Evers JL. Effect of in vitro culture of human embryos on birthweight of newborns.  Hum Reprod. 2010 Mar;25(3):605-12. IF 3.773
GROW(ontwikkelingsbiologie)

Engel C, Versmold B, Wappenschmidt B, Simard J, Easton DF, Peock S, Cook M, Oliver C, Frost D, Mayes R, Evans DG, Eeles R, Paterson J, Brewer C; Epidemiological Study of Familial Breast Cancer (EMBRACE), McGuffog L, Antoniou AC, Stoppa-Lyonnet D, Sinilnikova OM, Barjhoux L, Frenay M, Michel C, Leroux D, Dreyfus H, Toulas C, Gladieff L, Uhrhammer N, Bignon YJ, Meindl A, Arnold N, Varon-Mateeva R, Niederacher D, Preisler-Adams S, Kast K, Deissler H, Sutter C, Gadzicki D, Chenevix-Trench G, Spurdle AB, Chen X, Beesley J; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Olsson H, Kristoffersson U, Ehrencrona H, Liljegren A; Swedish Breast Cancer Study, Sweden (SWE-BRCA), van der Luijt RB, van Os TA, van Leeuwen FE; Hereditary Breast and Ovarian cancer group Netherlands (HEBON), Domchek SM, Rebbeck TR, Nathanson KL, Osorio A, Ramón y Cajal T, Konstantopoulou I, Benítez J, Friedman E, Kaufman B, Laitman Y, Mai PL, Greene MH, Nevanlinna H, Aittomäki K, Szabo CI, Caldes T, Couch FJ, Andrulis IL, Godwin AK, Hamann U, Schmutzler RK; Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2010 Nov;19(11):2859-68. IF: 4.310
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ESHRE Capri Workshop Group. Europe the continent with the lowest fertility. Hum Reprod Update. 2010 Nov-Dec;16(6):590-602. IF: 7.042
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Evers LJ, De Die-Smulders CE, Smeets EE, Clerkx MG, Curfs LM. The velo-cardio-facial syndrome: the spectrum of psychiatric problems and cognitive deterioration at adult age. Genet Couns. 2009;20(4):307-15. IF 0.422.
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Fachiroh J, Stevens SJ, Haryana SM, Middeldorp JM. Related Articles Combination of Epstein-Barr virus scaffold (BdRF1/VCA-p40) and small capsid protein (BFRF3/VCA-p18) into a single molecule for improved serodiagnosis of acute and malignant EBV-driven disease. J Virol Methods. 2010 Oct;169(1):79-86.  IF 2.133
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Gaudet MM, Kirchhoff T, Green T, Vijai J, Korn JM, van Roozendaal CE, Gomez Garcia E ,  et al. Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer. PLoS Genet 2010, 6(10): e1001183. IF: 9.532
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Geraedts JP. Does additional hybridization also improve preimplantation genetic screening results? Expert Rev Mol Diagn. 2010 Nov;10(8):981-5. IF:3.693
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Geraedts J, Collins J, Gianaroli L, Goossens V, Handyside A, Harper J, Montag M, Repping S, Schmutzler A. What next for preimplantation genetic screening? A polar body approach! Hum Reprod.  2010 Mar;25(3):575-7. IF 3.773
GROW(ontwikkelingsbiologie)

Gerards M, van den Bosch B, Calis C, Schoonderwoerd K, van Engelen K, Tijssen M, de Coo R, van der Kooi A, Smeets H. Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. Mitochondrion. 2010 Aug;10(5):510-5. IF: 4.145
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Gerards M, Sluiter W, van den Bosch BJ, de Wit E, Calis CM, Frentzen M, Akbari H, Schoonderwoerd K, Scholte HR, Jongbloed RJ, Hendrickx AT, de Coo IF, Smeets HJ. Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. J Med Genet. 2010 Aug;47(8):507-12. IF 5.713.
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Gianaroli L, Geraedts J, Veiga A, Brown S. The 'father of IVF' and a founding father of ESHRE. Hum Reprod. 2010 Dec;25(12):2933-5. IF:3.859
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Gielen M, C. van Beijsterveldt, C. Derom, R. Vlietinck, J. Nijhuis, M. Zeegers, D. Boomsma. Secular trends in gestational age and birth weight in twins. Human Reproduction, Human Reproduction 2010;25(9), 2346-2353.  IF 3.9
NUTRIM

von Gontard A, Didden R, Sinnema M, Curfs L. Urinary incontinence in persons with Prader-Willi Syndrome. BJU Int.2010 Dec;106(11):1758-62. IF: 2.865
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Gümüş H, Ghesquiere S, Per H, Kondolot M, Ichida K, Poyrazoğlu G, Kumandaş S, Engelen J, Dundar M, Cağlayan AO. Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency. Dev Med Child Neurol. 2010 Sep;52(9):868-72. IF: 3.019
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Harton GL, Magli MC, Lundin K, Montag M, Lemmen J, Harper JC. ESHRE PGD Consortium/Embryology Special Interest Group--best practice guidelines for polar body and embryo biopsy for preimplantation 
genetic diagnosis/screening (PGD/PGS). Hum Reprod. 2010 Oct 21. IF: 3.859.
GROW (ontwikkelingsbiologie)

Harper JC, Coonen E, De Rycke M, Harton G, Moutou C, Pehlivan T, Traeger-Synodinos J, Goossens V. ESHRE PGD consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008. Hum Reprod. 2010 Nov;25(11):2685-707. IF: 3.859.
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Harper JC, Sengupta S, Vesela K, Thornhill A, Dequeker E, Coonen E, Morris MA. Accreditation of the PGD laboratory. Hum Reprod. 2010 Apr;25(4):1051-65. IF 3.773.
GROW(ontwikkelingsbiologie)

Harper J, Coonen E, De Rycke M, Fiorentino F, Geraedts J, Goossens V, Harton G, Moutou C, Pehlivan Budak T, Renwick P, Sengupta S, Traeger-Synodinos J, Vesela K. What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium steering committee. Hum Reprod. 2010 Apr;25(4):821-3. IF 3.773.
GROW(ontwikkelingsbiologie)

Harssel JJ van, van Roozendaal CE, Detisch Y, Brandăo RD, Paulussen AD, Zeegers M, Blok MJ, Gomez Garcia EB. Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection. Fam Cancer. 2010, 9(2):193-201. IF 2.052
GROW(oncologie)

Heitink MV, Sinnema M, van Steensel MA, Schrander-Stumpel CT, Frank J, Curfs LM. Lymphedema in Prader-Willi syndrome. Int J Dermatol. 2008 Nov;47 Suppl 1:42-4. IF: 1.177.
GROW(oncologie)

Hermans MC, Faber CG, De Baets MH, de Die-Smulders CE, Merkies IS. Rasch-built myotonic dystrophy type 1 activity and participation scale (DM1-Activ). Neuromuscul Disord. 2010 May;20(5):310-8. IF: 2.977
GROW(oncologie)

Hermans MC, Pinto YM, Merkies IS, de Die-Smulders CE, Crijns HJ, Faber CG. Hereditary muscular dystrophies and the heart. Neuromuscul Disord. 2010 Aug;20(8):479-92. Review.
GROW(ontwikkelingsbiologie)

Holloway GP, Schwenk RW, Luiken JJFP, Glatz JFC, Bonen A. Fatty acid transport in skeletal muscle: Role in energy provision and insulin resistance. Clin Lipidol 5: 731-745, 2010.
CARIM

Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet. 2010 Aug;18(8):872-80. IF: 3.564
GROW(ontwikkelingsbiologie)

Hutajulu SH, Hoebe EK, Verkuijlen SA, Fachiroh J, Hariwiyanto B, Haryana SM, Stevens SJ, Greijer AE, Middeldorp JM. Conserved mutation of Epstein-Barr virus-encoded BamHI-A Rightward Frame-1 (BARF1) gene in Indonesian nasopharyngeal carcinoma. Infect Agent Cancer. 2010 Sep 19;5(1):16.  IF:
GROW(oncologie)

Jackson GC, Marcus-Soekarman D, Stolte-Dijkstra I, Verrips A, Taylor JA, Briggs MD. Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. Am J Med Genet A. 2010 Apr;152A(4):863-9. IF 2.555
GROW(ontwikkelingsbiologie)

Janssen MJ, Hendrickx BH, Habets-van der Poel CD, van den Bergh JP, Haagen AA, Bakker JA. Accuracy of the Precision((R)) point-of-care ketone test examined by liquid chromatography tandem-mass spectrometry (LC-MS/MS) in the same fingerstick sample. Clin Chem Lab Med. 2010 Dec;48(12):1781-4. IF: 1.886
GROW(ontwikkelingsbiologie)

Jong A de, Dondorp WJ, de Die-Smulders CE, Frints SG, de Wert GM. Non-invasive prenatal testing: ethical issues explored. Eur J Hum Genet. (2010) 18, 272–277. IF  4.003. 
GROW(ontwikkelingsbiologie)

Klaassens M, Blom EW, Schrander JJ, Ris-Stalpers C, Nieuwenhuijzen Kruseman AC, van Steensel MA, Schrander-Stumpel CT. Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation. Br J Dermatol. 2010Mar;162(3):690-4. IF 3.489
GROW(ontwikkelingsbiologie)

van der Klift HM, Tops CM, Bik EC, Boogaard MW, Borgstein AM, Hansson KB, Ausems MG, Gomez Garcia E, Green A, Hes FJ, Izatt L, van Hest LP, Alonso AM, Vriends AH, Wagner A, van Zelst-Stams WA, Vasen HF, Morreau H, Devilee P, Wijnen JT. Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.  Hum Mutat. 2010 May;31(5):578-87. IF: 6.887.
GROW (oncologie)

Korsten A, de Coo IF, Spruijt L, de Wit LE, Smeets HJ, Sluiter W. Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation. Biochim Biophys Acta. 2010 Feb;1797(2):197-203. IF 4.579.
GROW(ontwikkelingsbiologie)

van Kuilenburg AB, Meijer J, Gökcay G, Baykal T, Rubio-Gozalbo ME, Mul AN, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Roelofsen J, Vijzelaar R, Nicolai J, Hennekam RC. Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):509-14. IF 0.768.
GROW(ontwikkelingsbiologie)

Lammens CR, Bleiker EM, Aaronson NK, Wagner A, Sijmons RH, Ausems MG, Vriends AH, Ruijs MW, van Os TA, Spruijt L, Gómez García EB, Cats A, Nagtegaal T, Verhoef S. Regular surveillance for Li-Fraumeni Syndrome: advice, adherence and perceived benefits. Fam Cancer. 2010 Dec;9(4):647-54. IF: 2.189
GROW (oncologie)

Lammens CR, Bleiker EM, Verhoef S, Hes FJ, Ausems MG, Majoor-Krakauer D, Sijmons RH, van der Luijt RB, van den Ouweland AM, Van Os TA, Hoogerbrugge N, Gómez García EB, Dommering CJ, Gundy CM, Aaronson NK. Psychosocial impact of Von Hippel-Lindau disease: levels and sources of distress. Clin Genet. 2010 May;77(5):483-91. IF: 3.304.
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Lammens CR, Aaronson NK, Wagner A, Sijmons RH, Ausems MG, Vriends AH, Ruijs MW, van Os TA, Spruijt L, Gómez García EB, Kluijt I, Nagtegaal T, Verhoef S, Bleiker EM. Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences. . J Clin Oncol. 2010 Jun 20;28(18):3008-14. IF: 17.793.
GROW (oncologie)

Lindhout M, Rubio-Gozalbo ME, Bakker JA, Bierau J. Direct non-radioactive assay of galactose-1-phosphate: Uridyltransferase activity using high-performance liquid chromatography. Clin Chim Acta.2010 July;  411(13-14): 980-983. IF 2.960.
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Lipoldová M, Havelková H, Badalová J, Vojtíšková J, Quan L, Krulová M, Sohrabi Y, Stassen AP, Demant P.Loci controlling lymphocyte production of interferon c after alloantigen stimulation in vitro and their co-localization with genes controlling lymphocyte infiltration of tumors and tumor susceptibility. Cancer Immunol Immunother 2010, 59,203-213. IF 3.804.
GROW (oncologie)

Lopez JR, Claessen SMH, Macville MVE, Albrechts JCM, Skogseid B, Speel, EJM. Spectral karyotypic and comparative genomic analysis of the endocrine pancreatic tumor cell line BON-1. Neuroendocrinology 2010; 91(2):131-41. IF: 3.074
GROW (oncologie)

Maas AP, Sinnema M, Didden R, Maaskant MA, Smits MG, Schrander-Stumpel CT, Curfs LM. Sleep disturbances and behavioural problems in adults with Prader-Willi syndrome. J Intellect Disabil Res. 2010 Oct;54(10):906-917. IF 1.436
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Martherus RS, Sluiter W, D J Timmer E, Vanherle SJ, Smeets HJ, Ayoubi TA. Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association. Biochem Biophys Res Commun. 2010 Nov 12;402(2):203-8. IF: 2.548
CARIM

Martherus RS, Vanherle SJ, Timmer ED, Zeijlemaker VA, Broers JL, Smeets HJ, Geraedts JP, Ayoubi TA. Electrical signals affect the cardiomyocyte transcriptome independently of contraction. Physiol Genomics.2010 Nov 12;402(2):203-8. IF: 3.931.
CARIM

Martherus RS, Zeijlemaker VA, Ayoubi TA. Electrical stimulation of primary neonatal rat ventricular cardiomyocytes using pacemakers. Biotechniques. 2010 Jan;48(1):65-7.  IF 2.587.
CARIM

Molen MJ van der, Huizinga M, Huizenga HM, Ridderinkhof KR, Van der Molen MW, Hamel BJ, Curfs LM, Ramakers GJ. Profiling Fragile X Syndrome in males: Strengths and weaknesses in cognitive abilities. Res Dev Disabil. 2010 Mar-Apr;31(2):426-39. IF 1.414.  
GROW (ontwikkelingsbiologie)

Moonen RM, Reyes I, Cavallaro G, Gonzalez-Luis G, Bakker JA, Villamor E.  The T1405N Carbamoyl Phosphate Synthetase Polymorphism Does Not Affect Plasma Arginine Concentrations in Preterm Infants. PLoS One. 2010 May 25;5(5):e10792. IF 4.351
GROW (ontwikkelingsbiologie)

Musante L, Kunde SA, Sulistio TO, Fischer U, Grimme A, Frints SG, Schwartz CE, Martínez F, Romano C, Ropers HH, Kalscheuer VM. Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Hum Mutat. 2010 Jan;31(1):90-8. IF: 6.887

Noorlander AM, Geraedts JP, Melissen JB. Female gender pre-selection by maternal diet in combination with timing of sexual intercourse--a prospective study. Reprod Biomed Online. 2010 Dec;21(6):794-802. IF: 2.380
GROW (ontwikkelingsbiologie)

Ohye T, Inagaki H, Kogo H, Tsutsumi M, Kato T, Tong M, Macville MV, Medne L, Zackai EH, Emanuel BS, Kurahashi H. Paternal origin of the de novo constitutional t(11;22)(q23;q11). Eur J Hum Genet. 2010 Jul;18(7):783-7. IF: 3.925
GROW (ontwikkelingsbiologie)

Otter M, Schrander-Stumpel CT, Curfs LM. Triple X syndrome: a review of the literature. Eur J Hum Genet. 2010 Mar;18(3):265-71. IF 3.925
GROW (ontwikkelingsbiologie)

Paulussen AD, Schrander-Stumpel CT, Tserpelis DC, Spee MK, Stegmann AP, Mancini GM, Brooks AS, Collée M, Maat-Kievit A, Simon ME, van Bever Y, Stolte-Dijkstra I, Kerstjens-Frederikse WS, Herkert JC, van Essen AJ, Lichtenbelt KD, van Haeringen A, Kwee ML, Lachmeijer AM, Tan-Sindhunata GM, van Maarle MC, Arens YH, Smeets EE, de Die-Smulders CE, Engelen JJ, Smeets HJ, Herbergs J.  The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. Eur J Hum Genet. 2010 Sep;18(9):999-1005.  IF 3.925.
GROW (ontwikkelingsbiologie)

Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W. Osteopathia striata with cranial sclerosis owing to WTX gene defect. J Bone Miner Res. 2010 Jan;25(1):82-90. IF: 6.043.
GROW (ontwikkelingsbiologie)

Pijpe A, Manders P, Mulder RL, van Leeuwen FE, Rookus MA; Hereditary Breast and Ovarian Cancer Study, the Netherlands. Reliability of self-reported diagnostic radiation history in BRCA1/2 mutation carriers. Eur J Epidemiol. 2010 Feb;25(2):103-13. IF: 3.718
GROW (oncologie)

Pijpe A, Manders P, Brohet RM, Collée JM, Verhoef S, Vasen HF, Hoogerbrugge N, van Asperen CJ, Dommering C, Ausems MG, Aalfs CM, Gomez-Garcia EB; HEBON, Van't Veer LJ, van Leeuwen FE, Rookus MA. Physical activity and the risk of breast cancer in BRCA1/2 mutation carriers. Breast Cancer Res Treat. 2010 Feb;120(1):235-44. IF: 4.696.
GROW (oncologie)

Ruijs MW, Verhoef S, Rookus MA, Pruntel R, van der Hout AH, Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MG, Hoogerbrugge N, van Asperen CJ, Gomez Garcia EB, Meijers-Heijboer H, Ten Kate LP, Menko FH, van 't Veer LJ. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. . J Med Genet. 2010 Jun;47(6):421-8. IF: 5.751.
GROW (oncologie)

Sanduleanu S, Driessen A, Gómez García E, Hameeteman W, de Bruďne A, Masclee A. “In vivo diagnosis and classifications of colorectal neoplasia by chromoendoscopy-guided confocal laser endomicroscopy.”  Clin Gastroenterol Hepatol 2010 Apr;8(4):371-8.  IF 6.068.
GROW (oncologie)

Schott DA, Nicolai J, de Vries JE, Keularts IM, Rubio-Gozalbo ME, Gerver WJ. Disorder in the Serotonergic System due to Tryptophan Hydroxylation Impairment: A Cause of Hypothalamic Syndrome? Horm Res Paediatr. 2010;73(1):68-73. IF: nog niet bekend; jong tijdschrift.
GROW (ontwikkelingsbiologie)

Schrander-Stumpel CT, Sinnema M, van den Hout L, Maaskant MA, van Schrojenstein Lantman-de Valk HM, Wagemans A, Schrander JJ, Curfs LM. Healthcare transition in persons with intellectual disabilities: general issues, the Maastricht model, and Prader-Willi syndrome. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):241-7. Review. IF: 4.562
GROW (ontwikkelingsbiologie)

Sinnema M, van Roozendaal KE, Maaskant MA, Smeets HJ, Engelen JJ, Jonker-Houben N, Schrander-Stumpel CT, Curfs LM. Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly. Eur J Hum Genet. 2010 Sep;18(9):993-8. IF 3.925
GROW (ontwikkelingsbiologie)

Sinnema M, Schrander-Stumpel CT, Verheij HE, Meeuwsen M, Maaskant MA, Curfs LM. Dementia in a woman with Prader-Willi syndrome. Eur J Med Genet. 2010 May-Jun;53(3):145-8. IF 1.857.
GROW (ontwikkelingsbiologie)

Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, Rosenbaum K, Dubourg C, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, Hardisty E, Tylki-Szymanska A, Pronicka E, Clemens M, McPherson E, Hennekam RC, Hahn J, Stashinko E, Levey E, Wieczorek D, Roeder E, Schell-Apacik CC, Booth CW, Thomas RL, Kenwrick S, Keaton A, Balog JZ, Hadley D, Zhou N, Long R, Velez JI, Pineda-Alvarez DE, Odent S, Roessler E, Muenke M. Mutations in ZIC2 in Human Holoprosencephaly: Description of a Novel ZIC2-Specific Phenotype and Comprehensive Analysis of 157 Individuals. J Med Genet. 2010 Aug;47(8):513-24. IF 5.713
GROW(ontwikkelingsbiologie)

Stevens SJ, Meers LE, Albrechts JC, Mebis-Verhees K, Bos GM, Engelen JJ, Janssen JW.  A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL. Cancer Genet Cytogenet. 2010 Aug;201(1):48-51. IF 1.537
GROW(ontwikkelingsbiologie)

Stevens SJ, Smeets EE, van den Broek N, Droog RP, Breukels MA, Albrechts JC, Delst MR, Traa E, Lennarts M, Janssen JW, Engelen JJ. Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three-way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome. Am J Med Genet A. 2010 Aug;152A(8):2123-6. IF 2.404
GROW(ontwikkelingsbiologie)

Tienen FH van, Lindsey PJ, van der Kallen CJ, Smeets HJ. Prolonged Nrf1 overexpression triggers adipocyte inflammation and insulin resistance. J Cell Biochem. 2010 Dec 15;111(6):1575-85. IF: 2.935
GROW(ontwikkelingsbiologie), CARIM, NUTRIM

Tierling S, Souren NY, Gries J, Lo Porto C, Groth M, Lutsik P, Neitzel H, Utz-Billing I, Gillessen-Kaesbach G, Kentenich H, Griesinger G, Sperling K, Schwinger E, Walter J. Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human. J Med Genet. 2010 Jun;47(6):371-6.  IF 5.535.
NUTRIM

Visser NA, Braun KP, van den Bergh WM, Leijten FS, Willems CR, Ramos L, van den Bosch BJ, Smeets HJ, Wokke JH. Juvenile-onset Alpers syndrome: interpreting MRI findings. Neurology. 2010 Apr 13;74(15):1231-3. IF 7.043
GROW(ontwikkelingsbiologie)

Vos YJ, de Walle HE, Bos KK, Stegeman JA, Ten Berge AM, Bruining M, van Maarle MC, Elting MW, den Hollander NS, Hamel B, Fortuna AM, Sunde LE, Stolte-Dijkstra I, Schrander-Stumpel CT, Hofstra RM. Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. J Med Genet. 2010 Mar;47(3):169-75. IF 5.535.
GROW (ontwikkelingsbiologie)

Wagemans A, van Schrojenstein Lantman-de-Valk H, Tuffrey-Wijne I, Widdershoven G, Curfs L. End-of-life decisions: an important theme in the care for people with intellectual disabilities. J Intellect Disabil Res. 2010 Jun;54(6):516-24.  IF 1.436.
GROW (ontwikkelingsbiologie)

Wang X, Pankratz VS, Fredericksen Z, Tarrell R, Karaus M, McGuffog L, Pharaoh PD, Ponder BA, Dunning AM, Peock S, Cook M, Oliver C, Frost D; EMBRACE, Sinilnikova OM, Stoppa-Lyonnet D, Mazoyer S, Houdayer C; GEMO, Hogervorst FB, Hooning MJ, Ligtenberg MJ; HEBON, Spurdle A, Chenevix-Trench G; kConFab, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Domchek SM, Nathanson KL, Rebbeck TR, Singer CF, Gschwantler-Kaulich D, Dressler C, Fink A, Szabo CI, Zikan M, Foretova L, Claes K, Thomas G, Hoover RN, Hunter DJ, Chanock SJ, Easton DF, Antoniou AC, Couch FJ. Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. Hum Mol Genet. 2010 Jul 15;19(14):2886-97. IF: 7.386.
GROW (oncologie)

 Zoer B, Been JV, Jongen E, Debeer A, Hendrickx A, Smeets HJ, Zimmermann LJ, Villamor E. Mitochondrial DNA damage analysis in bronchoalveolar lavage cells of preterm infants. Front Biosci (Elite Ed). 2010 Jan 1;2:361-8.  IF 3.308
GROW(ontwikkelingsbiologie)

P.van der Zwaag, M.Cox, C.van der Werf, A. Wiesfeld, J.Jongbloed, D.Dooijes, H.Bikker, R.Jongbloed, A.Suurmeijer, M.van den Berg, R.Hofstra, R.Hauer, A.Wilde, J.P. van Tintelen. Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia. Netherlands Heart Journal, 2010;18:583-591. IF: 1.392
CARIM

 

 

PUBLICATIONS 2011

PUBLICATIONS 2009