• Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro) FISH. J. M. de Pater, P. F. Ippel, W. M. van Dam, W. H. Loneus and J. J. M. Engelen. Clinical Genetics, 62(6) p 482-487
  • Relationship of beta-adrenergic receptor-2 polymorphism with obesity in type 2 diabetes. Van Tilburg J, Wijmenga C, van Bakel H, Rozeman L, Pearson PL, van Haeften TW. (2003) Diabetes Care 26: 251-252.
  • Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques.J.M.de Pater, L.C.P.Govaerts, S.A. de Man, C.J.M. van der Sijs-Bos, G.C.M.L. Christiaens, W.M. van Dam, W.H. Loneus and J.J.M. Engelen. Pretanat Diagn 2003; 23: 747-751
  • Variance-component analysis of obesity in type 2 diabetes confirms Loci on chromosomes 1q and 11q. Van Tilburg JH, Sandkuijl LA, Strengman E, Pearson PL, Van Haeften TW, Wijmenga C. Obes Res. 2003 Nov;11(11):1290-4.
  • Comment.Van Tilburg JH, Wijmenga C, Van Haeften TW. Diabetologia. 2003 Nov;46(11):1588. Epub 2003 Oct 24.
  • Homozygosity mapping of a Desbuquois dysplasia locus to chromosome. Faivre L, Le Merrer M, Al-Gazali LI, Ausems MGEM, Bitoun P, Bacq D, Maroteaux P, Munnich A, Cormier-Daire V. 17q25.3. J Med Genet. 2003; 40: 282-284.
  • A genome-wide screen in obese pedigrees with type 2 diabetes mellitus from a defined Dutch population. Van Tilburg J, Sandkuijl LA, Franke L, Strengman E, Pearson PL, Van Haeften TW, Wijmenga C. Eur J Clin Invest 33(12):1070-4
  • The gene product, Murr1, restricts HIV-1 replication in resting CD4+ lymphocytes. Lakshmanan Ganesh, Erza Burnstein, Anuradha Guha-Niyogi, Mark K.Louder, Johan R. Mascola, Leo W.J.Klomp, Cisca Wijmenga, Colin S. Duckett C and Gary J.Nabel. Nature 426: 853-857.
  • Lack of association between IL12B and IRF1 gene polymorphisms and susceptibility to celiac disease. Seegers D, Borm MEA, van Belzen MJ, Mulder CJJ, Bailing J, Crusius JBA, Meijer JWR, Wijmenga C, Pena AS, Bouma G (2003) Eur J Immunogenet 30:421-5
  • The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis. Muller T, van de Sluis B, Zhernakova A, van Binsbergen E, Janecke AR, Bavdekar A, Pandit A, Weirich-Schwaiger H, Witt H, Ellemunter H, Deutsch J, Denk H, Muller W, Sternlieb I, Tanner MS, Wijmenga C. J Hepatol. 2003 Feb;38(2):164-8.
  • Exploration of a Putative Susceptibility Locus for Idopathic Generalized Epilepsy on Chromosome 8p12. Thomas Sander, Christine Windemuth, Herbert Schulz, Kathrin Saar, Dick Lindhout e.a. Epilepsia, 44(1):32-39,2003
  • Hypertrichosis cubiti: two new cases and a review of the literature. R.Visser, F.A.Beemer, R.H.Veenhoven, J.J.E.M.de Nef. Genetic Counseling 2002;13:397-403
  • Community Genetics. Past and Future. Eds.: J.J.S.Broertjes, L.Henneman, F.A.Beemer. Publ.: Department of Biological Education, Utrecht University, 2002. ISBN 90-393-3245-2
  • Pitfalls in prenatal diagnosis: cytogenetic analysis in amniocytes fails to detect mosaic r(12). De Pater JM, Scheres JM, Christiaens GC, Ausems MG. (2003) Prenat Diagn. 2003 Jan;23(1):65-7.
  • The MN1 oncoprotein synergizes with coactivators RAC3 and p300 in RAR-RXR-mediated transcription. van Wely KH, Molijn AC, Buijs A, Meester-Smoor MA, Aarnoudse AJ, Hellemons A, den Besten P, Grosveld GC, Zwarthoff EC (2003). Oncogene 22:699-709.
  • Skeletal dysplasia with cone shaped epiphyses in the hands and hips G.R.Mortier, P.P.G.Kramer, A.Giedion, F.A.Beemer J Med Genet 2003;40:201-207
  • Pediatric generalized joint hypermobility with and without musculoskeletal complaints: a localized or systemic disorder? Raoul H.H.Engelbert, Ruud A.Bank, Ralph J.B.Sakkers, Paul J.M.Helders, Frits A.Beemer, Cuno S.P.M.Uiterwaal. Pediatrics 2003;111:248-254
  • Het velo-cardio-faciaal (VCF/Shprintzen) syndroom. Beemer FA. In: NTvT Select, Syndromen. Red.: Ned.Tijdschrift voor Tandheelkunde. Uitg.:Bohn Stafleu Van Loghum (Houten), 2003:pp 35-39
  • Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer P, Beemer F, Mortier GJ. Am J Hum Genet 2003;72:1040-1047.
  • A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q. S.C. Bakker*, E. M. van der Meulen*, J.K. Buitelaar, L.A. Sandkuijl, D.L. Pauls, A.J. Monsuur, R. van 't Slot, R.B. Minderaa, W.B. Gunning, P.L. Pearson, R.J. Sinke (*both authors contributed equally to this article), Am J Hum Genet 2003 Apr 4;72(5)
  • Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1mutation and a normal collagen III protein profile. Kroes HY, Pals G, van Essen AJ. Clin Genet. 2003 Mar; 63(3):224-7.
  • Hoe moet een patiënt geïnformeerd worden indien het gaat om direct uit te voeren diagnostiek op DNA-niveau (bijv. HFE-gen bij hemochromatosis)?. Dr.J.C.Giltay, Prof.dr.J.J.M. Marx, Dr.H.K. Nieuwenhuis. Reumatologen Vademecuum nr 5, 24 april 2003
  • Molecular Characterization of WFS1 in Patients with Wolfram Syndrome. Johannes M.W. Van Den Ouweland, Kim Cryns, Ronald J.E.Pennings, Inge Walraven, George M.C.Janssen, J.Antonie Maassen, Bernard F.E.Veldhuijzen, Alexander B. Arntzenius, Dick Lindhout, Cor W.R.J.Cremers, Guy Van Camp and Lambert D. Dikkeschei. J of Molecular Diagnostics, Vol.5, No.2, May 2003
  • Unique Mosaicism of Structural Chromosomal Rearrangement: is Chromosome 18 Preferentially Involved?. J.M. de Pater, D.F.C.M.Smeets and J.M.J.C.Scheres. Am J of Medical Genetics 119A:26-31 (2003).
  • In Memoriam: Lodewijk A. Sandkuijl, M.D. (July 31, 1953 - December 4, 2002). Freimer NB, Heutink P, Wijmenga C (2003). Am J Hum Genet 72: 781-784.
  • A genome-wide scan in type 2 diabetes mellitus provides independent replication of a susceptibility locus on 18p11 and suggests the existence of novel Loci on 2q12 and 19q13. Van Tilburg JH, Sandkuijl LA, Strengman E, Van Someren H, Rigters-Aris CA, Pearson PL, Van Haeften TW, Wijmenga C. J Clin Endocrinol Metab. 2003 May;88(5):2223-30.
  • Diabetes: Response to Yoshioka,Yoshida, and Yoshikawa. Beta2-Adrenergic Receptor Polymorphism and Obesity in Type 2 Van Tilburg JH, Wijmenga C, Van Haeften TW. . Diabetes Care. 2003 May;26(5):1659-60.
  • Successful carnitine therapy for Raynaud's phenomenon in velo-cardio-facial syndrome R.Rodrigues Pereira, C.M.van Ede, F.A.Beemer. Am.J.Med.Genet.2003;119A:247-248.
  • Indirect molecular diagnosis of copper toxicosis in bedlington terriers is complicated by haplotype diversity. Van De Sluis B, Peter AT, Wijmenga C. J Hered. 2003 May-Jun;94(3):256-9.
  • Protein tyrosine phosphatase RQ is a phosphatidylinositol phosphatase that can regulate cell survival and proliferation. Oganesian A, Poot M, Daum G, Coats SA, Wright MB, Seifert RA, Bowen- Pope DF. 2003. Proc Natl Acad Sci U S A. 100 (13):7563-7568 (24 June).
  • Meisjes met een gestoorde ontwikkeling door het syndroom van Rett. Pruissen, D.M.O., R.J.Sinke, P.A.Terhal, F.A.Beemer, A.C.B.Peters Ned Tijdschr Geneeskd 2003;147:1560-1563
  • Voedingsproblemen en spraak- taalstoornissen bij kinderen als teken van het 22q11.2 deletiesyndroom. Beemer, F.A., J.H.Bretschneider, A.G.M.Schilder. Ned Tijdschr KNO-Heelk 2003;9:135-137
  • Characterisation of deletions of the ZFHX1B region and genotype- phenotype analysis in Mowat-Wilson syndrome. C.Zweier, I.K.Temple, F.Beemer, E.Zackai, T.Lerman-Sagie, B.Weschke, C.E.Anderson, A.Rauch. J.Med.Genet.2003;40:601-605
  • An investigation of the relationship between associated congenital malformations and the mental and psychomotor development of children with clefts H.F.N.Swanenburg de Veye, F.A.Beemer, G.J.Mellenbergh, W.H.G.Wolters, J.A.Heineman-de Boer.. Cleft Palate Craniofac J 2003;40:297-303.
  • The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein. Tao TY, Liu F, Klomp L, Wijmenga C, Gitlin JD. J Biol Chem. [Epub ahead of print]
  • Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis. Van Der Slot AJ, Zuurmond AM, Bardoel AF, Wijmenga C, Pruijs HE, Sillence DO, Brinckmann J, Abraham DJ, Black CM, Verzijl N, DeGroot J, Hanemaaijer R, TeKoppele JM, Huizinga TW, Bank RA. J Biol Chem [Epub ahead of print]
  • Indentification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. B.P.C. van de Warrenburg, D.S.Verbeek, S.J. Piersma, F.A.M. Hennekam, P.L. Pearson, N.V.A.M. Knoers, H.P.H. Kremer en R.J. Sinke. Neurology 61, december (2 of 2), 2003

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