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Results: 1-25 | 26-33
Results: 1-25/33
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
Authors: Njajou, OT Vaessen, N Joosse, M Berghuis, B van Dongen, JWF Breuning, MH Snijders, PJLM Rutten, WPF Sandkuijl, LA Oostra, BA van Duijn, CM Heutink, P
Citation: Ot. Njajou et al., A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis, NAT GENET, 28(3), 2001, pp. 213-214
Autosomal dominant polycystic kidney disease: modification of disease progression
Authors: Peters, DJM Breuning, MH
Citation: Djm. Peters et Mh. Breuning, Autosomal dominant polycystic kidney disease: modification of disease progression, LANCET, 358(9291), 2001, pp. 1439-1444
Cerebral microbleeds in CADASIL
Authors: Oberstein, SAJL van den Boom, R van Buchem, MA van Houwelingen, HC Bakker, E Vollebregt, E Ferrari, MD Breuning, MH Haan, J
Citation: Sajl. Oberstein et al., Cerebral microbleeds in CADASIL, NEUROLOGY, 57(6), 2001, pp. 1066-1070
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutchpedigree
Authors: Wagner, A Hendriks, Y Meijers-Heijboer, EJ de Leeuw, WJF Morreau, H Hofstra, R Tops, C Bik, E Brocker-Vriends, AHJT van der Meer, C Lindhout, D Vasen, HFA Breuning, MH Cornelisse, CJ van Krimpen, C Niermeijer, MF Zwinderman, AH Wijnen, J Fodde, R
Citation: A. Wagner et al., Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutchpedigree, J MED GENET, 38(5), 2001, pp. 318-322
CBFB/MYHII fusion in a patient with AML-M4Eo and cytogenetically normal chromosomes 16
Authors: Pirc-Danoewinata, H Dauwerse, HG Konig, M Chudoba, I Mitterbauer, M Jager, U Breuning, MH Haas, OA
Citation: H. Pirc-danoewinata et al., CBFB/MYHII fusion in a patient with AML-M4Eo and cytogenetically normal chromosomes 16, GENE CHROM, 29(2), 2000, pp. 186-191
Targeted disruption of the Cln3 gene provides a mouse model for Batten disease (vol 6, pg 321, 1999)
Authors: Mitchison, HM Bernard, DJ Greene, NDE Cooper, JD Junaid, MA Pullarkat, RK de Vos, N Breuning, MH Owens, JW Mobley, WC Gardiner, RM Lake, BD Taschner, PEM Nussbaum, RL
Citation: Hm. Mitchison et al., Targeted disruption of the Cln3 gene provides a mouse model for Batten disease (vol 6, pg 321, 1999), NEUROBIOL D, 7(2), 2000, pp. 127-127
Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells
Authors: Scheffers, MS van der Bent, P Prins, F Spruit, L Breuning, MH Litvinov, SV de Heer, E Peters, DJM
Citation: Ms. Scheffers et al., Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells, HUM MOL GEN, 9(18), 2000, pp. 2743-2750
The ACE insertion/deletion polymorphism has no influence on progression ofrenal function loss in autosomal dominant polycystic kidney disease
Authors: van Dijk, MA Breuning, MH Peters, DJM Chang, PC
Citation: Ma. Van Dijk et al., The ACE insertion/deletion polymorphism has no influence on progression ofrenal function loss in autosomal dominant polycystic kidney disease, NEPH DIAL T, 15(6), 2000, pp. 836-839
Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH
Authors: Bezrookove, V Hansson, K van der Burg, M van der Smagt, JJ Hilhorst-Hofstee, Y Wiegant, J Beverstock, GC Raap, AK Tanke, H Breuning, MH Rosenberg, C
Citation: V. Bezrookove et al., Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH, HUM GENET, 106(4), 2000, pp. 392-398
Linkage and LOH studies in 19 cylindromatosis families show no evidence ofgenetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13
Authors: Takahashi, M Rapley, E Biggs, PJ Lakhani, SR Cooke, D Hansen, J Blair, E Hofmann, B Siebert, R Turner, G Evans, DG Schrander-Stumpel, C Beemer, FA van Vloten, WA Breuning, MH van den Ouweland, A Halley, D Delpech, B Cleveland, M Leigh, I Chapman, P Burn, J Hohl, D Gorog, JP Seal, S Mangion, J Warren, W Bignell, G Stratton, MR
Citation: M. Takahashi et al., Linkage and LOH studies in 19 cylindromatosis families show no evidence ofgenetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13, HUM GENET, 106(1), 2000, pp. 58-65
Assessment of prenatal karyotypes
Authors: van der Smagt, JJ Beverstock, GC Breuning, MH Kanhai, HHH Vandenbussche, FPHA
Citation: Jj. Van Der Smagt et al., Assessment of prenatal karyotypes, HUM REPR, 15(1), 2000, pp. 228-229
Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations
Authors: Breuning, MH Oranje, AP Langemeijer, RATM Hovius, SER Diepstraten, AFM den Hollander, JC Baumgartner, N Dwek, JR Sommer, A Toriello, H
Citation: Mh. Breuning et al., Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations, AM J MED G, 94(2), 2000, pp. 91-101
Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q38.3;p13.3)
Authors: Petrij, F Dorsman, JC Dauwerse, HG Giles, RH Peeters, T Hennekam, RCM Breuning, MH Peters, DJM
Citation: F. Petrij et al., Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q38.3;p13.3), AM J MED G, 92(1), 2000, pp. 47-52
Location of mutations within the PKD2 gene influences clinical outcome
Authors: Hateboer, N Veldhuisen, B Peters, D Breuning, MH San-Millan, JL Bogdanova, N Coto, E von Dijk, MA Afzal, AR Jeffery, S Saggar-Malik, AK Torra, R Dimitrakov, D Martinez, I de Castro, SS Krawczak, M Ravine, D
Citation: N. Hateboer et al., Location of mutations within the PKD2 gene influences clinical outcome, KIDNEY INT, 57(4), 2000, pp. 1444-1451
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
Authors: Petrij, F Dauwerse, HG Blough, RI Giles, RH van der Smagt, JJ Wallerstein, R Maaswinkel-Mooy, PD van Karnebeek, CD van Ommen, GJB van Haeringen, A Rubinstein, JH Saal, HM Hennekam, RCM Peters, DJM Breuning, MH
Citation: F. Petrij et al., Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations, J MED GENET, 37(3), 2000, pp. 168-176
A murine model for juvenile NCL: Gene targeting of mouse CLn3 (vol 66, pg 309, 1999)
Authors: Greene, NDE Bernard, DL Taschner, PEM Lake, BD de Vos, N Breuning, MH Gardiner, RM Mole, SE Nussbaum, RL Mitchison, HM
Citation: Nde. Greene et al., A murine model for juvenile NCL: Gene targeting of mouse CLn3 (vol 66, pg 309, 1999), MOL GEN MET, 67(4), 1999, pp. 368-368
A murine model for juvenile NCL: Gene targeting of mouse Cln3
Authors: Greene, NDE Bernard, DL Taschner, PEM Lake, BD de Vos, N Breuning, MH Gardiner, RM Mole, SE Nussbaum, RL Mitchison, HM
Citation: Nde. Greene et al., A murine model for juvenile NCL: Gene targeting of mouse Cln3, MOL GEN MET, 66(4), 1999, pp. 309-313
Genetic heterogeneity of neuronal ceroid lipofuscinosis in the Netherlands
Authors: Taschner, PEM Franken, PF van Berkel, L Breuning, MH
Citation: Pem. Taschner et al., Genetic heterogeneity of neuronal ceroid lipofuscinosis in the Netherlands, MOL GEN MET, 66(4), 1999, pp. 339-343
The angiotensin-converting enzyme genotype and microalbuminuria in autosomal dominant polycystic kidney disease
Authors: van Dijk, MA Peters, DJM Breuning, MH Chang, PC
Citation: Ma. Van Dijk et al., The angiotensin-converting enzyme genotype and microalbuminuria in autosomal dominant polycystic kidney disease, J AM S NEPH, 10(9), 1999, pp. 1916-1920
Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease
Authors: Reynolds, DM Hayashi, T Cai, YQ Veldhuisen, B Watnick, TJ Lens, XM Mochizuki, T Qian, F Maeda, Y Li, L Fossdal, R Coto, E Wu, GQ Breuning, MH Germino, GG Peters, DJM Somlo, S
Citation: Dm. Reynolds et al., Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease, J AM S NEPH, 10(11), 1999, pp. 2342-2351
Genes homologous to the autosomal dominant polycystic kidney disease genes(PKD1 and PKD2)
Authors: Veldhuisen, B Spruit, L Dauwerse, HG Breuning, MH Peters, DJM
Citation: B. Veldhuisen et al., Genes homologous to the autosomal dominant polycystic kidney disease genes(PKD1 and PKD2), EUR J HUM G, 7(8), 1999, pp. 860-872
Targeted disruption of the Cln3 gene provides a mouse model for Batten disease
Authors: Mitchison, HM Bernard, DJ Greene, NDE Cooper, JD Junaid, MA Pullarkat, RK de Vos, N Breuning, MH Owens, JW Mobley, WC Gardiner, RM Lake, BD Taschner, PEM Nussbaum, RL
Citation: Hm. Mitchison et al., Targeted disruption of the Cln3 gene provides a mouse model for Batten disease, NEUROBIOL D, 6(5), 1999, pp. 321-334
Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered
Authors: van der Reijden, BA Dauwerse, HG Giles, RH Jagmohan-Changur, S Wijmenga, C Liu, PP Smit, B Wessels, HW Beverstock, GC Jotterand-Bellomo, M Martinet, D Muhlematter, D Lafage-Pochitaloff, M Gabert, J Reiffers, J Bilhou-Nabera, C van Ommen, GJB Hagemeijer, A Breuning, MH
Citation: Ba. Van Der Reijden et al., Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered, ONCOGENE, 18(2), 1999, pp. 543-550
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis
Authors: de Vries, BBA Kleijer, WJ Keulemans, JLM Voznyi, YV Franken, PF Eurlings, MCM Galjaard, RJ Losekoot, M Catsman-Berrevoets, CE Breuning, MH Taschner, PEM van Diggelen, OP
Citation: Bba. De Vries et al., First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis, PRENAT DIAG, 19(6), 1999, pp. 559-562
Identification of COL4 A5 defects in Alport's syndrome by immunohistochemistry of skin (vol 55, pg 1217, 1999)
Authors: Van der Loop, FTL Monnens, LAH Schroder, CH Lemmink, HH Breuning, MH Timmer, EDJ Smeets, HJM
Citation: Ftl. Van Der Loop et al., Identification of COL4 A5 defects in Alport's syndrome by immunohistochemistry of skin (vol 55, pg 1217, 1999), KIDNEY INT, 56(6), 1999, pp. 2337-2337
Risultati: 1-25 | 26-33