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Start Over Author "Egbert Bakker" Journal cytogenetic and genome research
7 results on '"Egbert Bakker"'

1. Contents Vol. 128, 2010

Author

Egbert Bakker, Mariela Nieves, Marta D. Mudry, S.M. Gollin, Cristina Rossetti, Maisa Yoshimoto, Satz Mengensatzproduktion, André Eggen, Giovanna Fusco, Cathy A.J. Bosch, B.J. Henson, Thomas Liehr, Druck Reinhardt Druck Basel, Claudia A. L. Ruivenkamp, Francesco Filippini, V. Sarri, Vladimir A. Trifonov, P.A.S. Nuin, C. Campanile, M. Mühlmann, Pier Giorgio Cionini, Monika Ziegler, M.H. Breuning, Gaia Andreozzi, Marilena Ceccarelli, Paul S. Thorner, G. Raabe-Meyer, M. Verschuren, Maria Strazzullo, Maurizio D'Esposito, Maria Zielenska, E. Polizzi, Kerstin Hansson, Lino Ferrara, G.P. Di Meo, P.V. Dementyeva, Alexander S. Graphodatsky, Olga Ludkovski, Anastasia I. Kulemzina, Jeremy A. Squire, Domenico Vecchio, Nadezda Kosyakova, Angela Perucatti, A. van Haeringen, Jeff W. Martin, Anja Weise, A.C.J. Gijsbers, and Giuseppe Campanile

Subjects
Botany, Genetics, Zoology, Biology, Molecular Biology, Genetics (clinical)
Published
2010

2. Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning

Author

Egbert Bakker, P.J. Diergaarde, E. M. Bleeker-Wagemakers, E. J. M. Schuurman, Arthur A.B. Bergen, H. Lerach, Martin C. Wapenaar, G.J.B. van Ommen, and Anthony P. Monaco

Subjects
Cloning, Genetics, Hybridization probe, Biology, medicine.disease, Gene mapping, Fingerprint, Genetic marker, medicine, Norrie disease, Molecular probe, Molecular Biology, Genetics (clinical), X chromosome
Abstract

Differential Alu PCR fingerprint cloning was used to isolate a DNA probe from the Xp 11.4→p11.21 region of the human X chromosome. This novel sequence, cpXr318 (DXS742), detects a new submicroscopic deletion interval at the Norrie disease locus (NDP). Combining our data with the consensus genetic map of the proximal short arm of the X chromosome, we propose the physical order Xcen – DXS14 – DXS255 – (DXS426, TIMP) – (DXS742 – ([MAOB – MAOA -DXS7], NDP) – DXS77 – DXS228) – DXS209 – DXS148 -DXS196 – Xpter. The cpXr318 probe and a subclone from a cosmid corresponding to the DXS7 locus were converted into sequence-tagged sites. Finally, DXS742, DXS7, DXS77, and MAOA were integrated into a physical map spanning the Norrie disease locus.

Published
1993

3. A subtle familial translocation t(3;21)(p26.3;q22.3): an apparently healthy boy with a 3p deletion and 21q duplication

Author

Claudia A. L. Ruivenkamp, Kerstin Hansson, M. Verschuren, Cathy A.J. Bosch, M.H. Breuning, Egbert Bakker, Antoinet C.J. Gijsbers, and A. van Haeringen

Subjects
Male, Monosomy, Derivative chromosome, Chromosomes, Human, Pair 21, Isochromosome, Chromosomal translocation, Trisomy, Biology, Translocation, Genetic, Chromosome 15, Segmental Duplications, Genomic, Intellectual Disability, Genetics, medicine, Humans, Family, Child, Molecular Biology, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Sequence Deletion, Autosome, medicine.disease, Chromosome 3, Child, Preschool, Face, Karyotyping, Female, Chromosomes, Human, Pair 3, Chromosome 21
Abstract

Here we report the clinical and cytogenetic results of a family carrying a cryptic translocation involving chromosome 3pter and 21qter detected by single nucleotide polymorphism array and subtelomeric fluorescent in situ hybridisation analysis. The index patient, with mild mental retardation in combination with minor dysmorphic features, inherited the derivative chromosome 21 resulting in a partial trisomy of the short arm of chromosome 3 and a partial monosomy of the long arm of chromosome 21. Her apparently healthy brother inherited the derivative chromosome 3 resulting in a terminal deletion of the short arm of chromosome 3 and a terminal duplication of the long arm of chromosome 21. We discuss the different phenotypes for the 2 genotypes and argue for the importance of reporting these imbalances to achieve accurate genetic counseling in prenatal and postnatal diagnosis.

Published
2009

4. Contents, Vol. 52, 1989

Author

C. Perrotez, D. Bérubé, Andries Westerveld, M. Maurice, S. Strömblad, A. de la Chapelle, S.J. O’Brien, A.T. Look, D.M. DeBauche, L. Vidal-Rioja, M.W. Berchtold, C. Szpirer, E.C. Douglass, E.S. Han, P.J.R. Barton, P.A. Lalley, G. Feldmann, W. Rombauts, M.H. Kaufman, S. Adolph, D. Cassio, H. Hameister, S.L. Naylor, M. Jaye, U. Eichenlaub-Ritter, B. Nicoletti, Egbert Bakker, Y. Lachance, M. Schmid, F. Mitelman, J.J. Cassiman, Y. Jin, N.O. Bianchi, S.L. Wenger, M. Caron, S.R. Paul, J. Frézal, A.M. Killary, H.N. Seuànez, I. Parent, N. Mandahl, J. Egozcue, B. Tedeschi, D. Schindler, G. Ghosh-Choudhury, A. Buonanno, H.J. Roberts, A. Smith, P. Vernole, A. Geurts van Kessel, W. Schempp, L.G. Salford, Marcel M.A.M. Mannens, S. Heim, I. Boll, J. Zhang, K. Hemschoote, P. Grao, F. Labrie, A.Y. Sakaguchi, R.C. Hardison, J. Szpirer, M. Ponsà, Y. Yan, Nguyen van Cong, S. Speirs, S. Merani, L.-M. Wang, M. Valentine, O. Cohen-Haguenauer, B. Peeters, B. Porfirio, J. Xu, Rob Benne, E. Solomon, D. Caporossi, M.F. de Tand, G.S. Pai, R. Gagné, R. Kaplan, L. Martinez, M. Masset, G. Levan, A. Bout, J. Merlie, N De Clercq, W.S. Modi, Jan M.N. Hoovers, H.J. Haigler, E. Lindström, P.E. Polani, J.A. Crolla, M. Tamminen, M.D. Coll, L. Pajunen, J.M. Tager, T. Pihlajaniemi, W.S. Stanley, and E. Enderle

Subjects
Botany, Genetics, Zoology, Biology, Molecular Biology, Genetics (clinical)
Published
1989

5. Contents, Vol. 41, 1986

Author

Helen Donis-Keller, H. Nakai, Peter L. Pearson, M. Schwartz, Peter Devilee, Lap-Chee Tsui, Graeme I. Bell, C. J. Cornelisse, P. Slagboom, P. Tsipouras, D. Kennedy, Harold N. Bass, T.C. Lee, Satomi Kohno, I.D. Dubé, J. del Mazo, Harold P. Klinger, R. S. Sparkes, Hans Eiberg, M. Buchwald, J.B. Searle, K. Schmiegelow, Cynthia C. Morton, M.C. Sparkes, N. Plavsic, Jan Mohr, Thomas Cremer, H. D. Hager, S. Satoh, D. Markiewicz, M. Kaelbling, M. Yoshida, M.G. Byers, M.L. Greenberg, R.S. Roginski, D. Barker, H. Kobayashi, L.G. Gil-Alberdi, Y. Nakai, H.P. Scholl, S. Zengerling, Thomas B. Shows, P.J. Wilkinson, Egbert Bakker, R.Y. Huang, M. Zsiga, K.Y. Jan, H.F. Willard, and A. F. G. Stevenson

Subjects
Botany, Genetics, Biology, Molecular Biology, Genetics (clinical)
Published
1986

6. Subject Index Vol. 41, 1986

Author

A. F. G. Stevenson, J.B. Searle, Peter L. Pearson, M. Buchwald, N. Plavsic, M. Yoshida, P.J. Wilkinson, H.P. Scholl, T.C. Lee, Jan Mohr, Graeme I. Bell, Lap-Chee Tsui, M.C. Sparkes, H. Kobayashi, Harold P. Klinger, P. Tsipouras, P. Slagboom, I.D. Dubé, D. Barker, L.G. Gil-Alberdi, H. D. Hager, M.G. Byers, S. Satoh, M.L. Greenberg, Thomas B. Shows, Egbert Bakker, R.Y. Huang, M. Kaelbling, H.F. Willard, Y. Nakai, Peter Devilee, Harold N. Bass, J. del Mazo, Satomi Kohno, S. Zengerling, D. Kennedy, R. S. Sparkes, K. Schmiegelow, Cynthia C. Morton, D. Markiewicz, M. Zsiga, M. Schwartz, C.J. Cornelisse, H. Nakai, Hans Eiberg, Thomas Cremer, R.S. Roginski, Helen Donis-Keller, and K.Y. Jan

Subjects
Index (economics), Statistics, Genetics, Subject (documents), Biology, Molecular Biology, Genetics (clinical)
Published
1986

7. Subject Index Vol. 52, 1989

Author

H.J. Haigler, W.S. Stanley, E. Lindström, R. Kaplan, M. Masset, E. Enderle, U. Eichenlaub-Ritter, S. Strömblad, L. Vidal-Rioja, K. Hemschoote, J.J. Cassiman, Y. Jin, H.N. Seuànez, P.A. Lalley, J. Egozcue, S.L. Naylor, H.J. Roberts, D. Schindler, C. Szpirer, S.L. Wenger, J. Zhang, E.C. Douglass, Marcel M.A.M. Mannens, S.R. Paul, L. Pajunen, I. Boll, O. Cohen-Haguenauer, S. Heim, B. Peeters, J.M. Tager, A. Buonanno, S. Speirs, W.S. Modi, M. Maurice, J. Frézal, L.G. Salford, W. Schempp, A.Y. Sakaguchi, G.S. Pai, N.O. Bianchi, D.M. DeBauche, M. Ponsà, J. Xu, R.C. Hardison, M. Schmid, J. Szpirer, Egbert Bakker, L. Martinez, W. Rombauts, M.H. Kaufman, G. Ghosh-Choudhury, G. Feldmann, B. Nicoletti, R. Gagné, H. Hameister, L.-M. Wang, S.J. O’Brien, P. Vernole, C. Perrotez, M.F. de Tand, I. Parent, B. Tedeschi, M. Caron, Andries Westerveld, A. Geurts van Kessel, Y. Yan, D. Caporossi, M.W. Berchtold, Y. Lachance, A. de la Chapelle, P.J.R. Barton, D. Bérubé, D. Cassio, A.T. Look, N. Mandahl, A.M. Killary, Nguyen van Cong, E. Solomon, S. Merani, T. Pihlajaniemi, M. Tamminen, M.D. Coll, P.E. Polani, J.A. Crolla, J. Merlie, F. Labrie, Rob Benne, M. Jaye, E.S. Han, S. Adolph, N De Clercq, A. Smith, F. Mitelman, P. Grao, M. Valentine, G. Levan, A. Bout, B. Porfirio, and Jan M.N. Hoovers

Subjects
Index (economics), Statistics, Genetics, Subject (documents), Biology, Molecular Biology, Genetics (clinical)
Published
1989

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