2006

Lees voor

Lack of association of MYO9B genetic variants with coeliac disease in a British cohort.
Hunt KA, Monsuur AJ, McArdle W, Kumar PJ, Travis SP, Walters JR, Jewell DP, Strachan DP, Playford RJ, Wijmenga C, van Heel DA.
Gut. 2006 Jan 19
Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25.
Geremek M, Zietkiewicz E, Diehl SR, Alizadeh BZ, Wijmenga C, Witt M.
J Med Genet. 2006 Jan;43(1):e1.
Microarray-based genome investigation: molecular karyotyping or segmental aneuploidy profiling?
Hochstenbach R, van Amstel HK, Poot M.
Eur J Hum Genet. 2006 Jan 4
Overview of cytogenetic regions of interest (CROIs) associated with the autism phenotype across the human genome.
Vorstman JA, Staal WG, Hochstenbach PF, Franke L, van Daalen E, van Engeland H.
Mol Psychiatry. 2006 Jan;11(1):1.
Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA).
Hochstenbach R, Meijer J, van de Brug J, Vossebeld-Hoff I, Jansen R, van der Luijt RB, Sinke RJ, Page-Christiaens GC, Ploos van Amstel JK, de Pater JM.
Prenat Diagn. 2005 Nov;25(11):1032-9.
Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism.
Vorstman JA, Staal WG, van Daalen E, van Engeland H, Hochstenbach PF, Franke L.
Mol Psychiatry. 2006 Jan;11(1):18-28.
Identification of TUB as a Novel Candidate Gene Influencing Body Weight in Humans.
Shiri-Sverdlov R, Custers A, van Vliet-Ostaptchouk JV, van Gorp PJ, Lindsey PJ, van Tilburg JH, Zhernakova S, Feskens EJ, van der A DL, Dolle ME, van Haeften TW, Koeleman BP, Hofker MH, Wijmenga C.
Diabetes. 2006 Feb;55(2):385-9.
Polymorphisms in human connexin40 gene promoter are associated with increased risk of hypertension in men.
Firouzi M, Kok B, Spiering W, Busjahn A, Bezzina CR, Ruijter JM, Koeleman BP, Schipper M, Groenewegen WA, Jongsma HJ, de Leeuw PW.
J Hypertens. 2006 Feb;24(2):325-30
Epistatic interaction between FCRL3 and NFKB1 genes in Spanish Rheumatoid Arthritis patients.
Martinez A, Sanchez E, Valdivia A, Orozco G, Lopez-Nevot MA, Pascual-Salcedo D, Balsa A, Fernandez-Gutierrez B, de la Concha EG, Wijmenga C, Koeleman BP, Urcelay E, Martin J.
Ann Rheum Dis. 2006 Feb 13;
Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.
J.M.de Pater, M.Poot, F.A.Beemer, J.B.Bijlsma, W.W.M.Hack, W.M.van Dam, M.J.Eleveld, W.H.Loneus, J.M.M.Engelen
EJMG 49 (2006) 19-27
Heterogeneity in the origin or recurrent complete hydatidiform moles: not all women with multiple molar pregnancies have biparental moles.
JJ van der Smagt, E.Scheenjes, JAM Kremer, FAM Hennekam, RA Fischer
BJOG 28 april 2006
A Novel Splicing Mutation in KCNQ2 in a Multigenerational Family with BFNC Followed for 25 Years.
Gerrit-Jan de Haan, Dalila Pinto, Dietbrandt Carton, Adri Bader, Jorien Witte, Edith Peters, Gerard van erp, Willem Vandereyken, Eduard Boezeman, Martin C. Wapenaar, Paul Boon, Dicky Halley, Bobby P.C. Koeleman and Dick Lindhout,
Epilepsia 47(5):851-859 2006
Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes.
Franke L, Bakel H, Fokkens L, de Jong ED, Egmont-Petersen M, Wijmenga C.
Am J Hum Genet. 2006 Jun;78(6):1011-25. Epub 2006 Apr 25.
Characterization of COMMD protein-protein interactions in NF-kappaB signalling.
de Bie P, van de Sluis B, Burstein E, Duran KJ, Berger R, Duckett CS, Wijmenga C, Klomp LW.
Biochem J. 2006 Mar 30
Hypoparathyroidism-retardation-dysmorphism syndrome in a female child: a new variant not caused by a TBCE mutation – case report and review.
W. Courtens, J. Wauters, M. Poot, W. Wuyts, E. Reyniers, S. Scheers, R. van Luijk, M. Eleveld, G. Diaz, MM. Nöthen, R. Parvari (2006)
American Journal of Medical Genetics 140A, 611-617.
The Spectrum of WRN Mutations in Werner Syndrome Patients.
S. Huang, L. Lee, N.B. Hanson, C. Lenaerts, H. Hoehn, M. Poot, C.D. Rubin, D.-F. Chen, C.C. Yang, H. Juch, T. Dorn, R. Speigel, E.A. Oral, M. Abid, C. Battisti, E. Lucci-Cordisco, G. Neri, E.H. Steed, A. Kidd, W. Isley, D. Showalter, J.L. Vittone, A. Konstantinow, J. Ring, P. Meyer, S. L. Wenger, A.von Herbay, U. Wollina, M. Schulke, C.R. Huizenga, G.M. Martin, I.S. Mian, J. Oshima (2006)
Human Mutation 27, 558-567.
The perceived personal control (PPC) questionnaire as an outcome of genetic counselling: reliability and validity of the instrument.
EMA Smets, AH Pieterse, CM Aalfs, MGEM Ausems, AM van Dulmen.
Am J Med Genet 2006;140A:843-850
Tailoring communication in cancer genetic counseling through individual video-supported feedback: a controlled pretest-posttest design.
AH Pieterse, AM van Dulmen, FA Beemer, MGEM Ausems, JM Bensing.
Patient Educ Couns 2006;60:326-335
Heterozygous mutations in PMS2 cause hereditary non polyposis colorectal carcinoma (Lynch syndrome).
YMC Hendriks, S Jagmohan-Changur, HM van der Klift, H Morreau, M van Puijenbroek, C Tops, Th van Os, A Wagner, MGEM Ausems, E Gomez, HFA Vasen, MH Breuning, AHJT Bröcker-Vriends, R Fodde, JTh Wijnen.
Gastro-enterology 2006;130:312-322.
A literature review of the psychological impact of genetic testing in breast cancer patients.
KJ Schlich-Bakker, HFJ ten Kroode, MGEM Ausems.
Patient Educ Couns 2006 62:13-20
Congenital diaphragmatic hernia associated with duplication of 11q23-qter.
M. Klaassens, D.A. Scott, M. van Dooren, R. Hochstenbach, H.J. Eussen, W.W. Cai, R.J. Galjaard, C. Wouters, M. Poot, J. Laudy, B. H. I. Lee, D. Tibboel, A. de Klein.
American Journal Medical Genetics 2006 140A, 1580-1586.
Increased DNA Methylation at the AXIN1 Gene in a Monozygotic Twin from a Pair Discordant for a Caudal Duplication Anomaly.
Oates NA, van Vliet J, Duffy DL, Kroes HY, Martin NG, Boomsma DI, Campbell M, Coulthard MG, Whitelaw E, Chong S.
Am J Hum Genet. 2006 Jul;79(1):155-62.
Congenital diaphragmatic hernia associated with duplication of 11q23-qter.
M. Klaassens, D.A. Scott, M. van Dooren, R. Hochstenbach, H.J. Eussen, W.W. Cai, R.J. Galjaard, C. Wouters, M. Poot, J. Laudy, B. H. I. Lee, D. Tibboel, A. de Klein (2006)
American Journal Medical Genetics 140A, 1580-1586.
Philadelphia chromosome of a constitutional der(22)t(Y;22)(q11.2;p10) with a variant t(1;9;22)(p36;q34;q11) in a case of chronic myelogenous leukemia.
A Buijs, PA Terhal, PLM Thunnissen.
Cancer Genet Cytogenet. 2006; 168:80-2.
Detection of risk-identifying chromosomal abnormalities and genomic profiling by multiplex ligation-dependent probe amplification in chronic lymphocytic leukemia.
Arjan Buijs, Pieter Jaap Krijtenburg, Ellen Meijer.
Haematologica 2006;91:1434-1435

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Onderzoek

2006