Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4

Autor: P D, Cotter, S, Kaffe, L, Li, I F, Gershin, K, Hirschhorn

Publikováno v: American journal of medical genetics. 102(1)

We report on a 4(1/2)-year-old girl, who presented with multiple minor anomalies consistent with trisomy for 4p. GTG-banding identified a de novo terminal inversion duplication of distal 4p, dup(4)(p16.3p15.3). Fluorescence in situ hybridization (FIS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5933a38b57226514f23727050f1d7c68
https://pubmed.ncbi.nlm.nih.gov/11471177

Paternal uniparental disomy for chromosome 14: a case report and review

Autor: P D, Cotter, S, Kaffe, L D, McCurdy, M, Jhaveri, J P, Willner, K, Hirschhorn

Publikováno v: American journal of medical genetics. 70(1)

Uniparental disomy (UPD) for several chromosomes has been associated with disease phenotypes. Maternal UPD for chromosome 14 has been described and has a characteristic abnormal phenotype. Paternal UPD14 is rare and only three previous cases have bee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::dff5a48db8c084a9d9bb7a8afc1d2e27
https://pubmed.ncbi.nlm.nih.gov/9129745

1995 William Allan Award address. Human genetics: a discipline at risk for fragmentation

Autor: K, Hirschhorn

Publikováno v: American journal of human genetics. 58(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bc2f277145eb254a21bb14fa67913ac3
https://pubmed.ncbi.nlm.nih.gov/8554045

Subject Index Vol. 91, 2000

Autor: H. Kehrer-Sawatzki, G. Williams, H. Berninger, O.J. Miller, K. Dreikorn, F. Dechend, M. Kämper, T. Bonk, V. Beensen, N. Mah, S. Balg, S. Jakubiczka, W. Schloot, I. Hansmann, M. Wilda, D. Schindler, K. Lücke, A. Hehr, G. Herzberger, T. Liehr, H.G. Nothwang, A. Bardhan, S. Henschel, A. Dufke, N.A. Ellis, J.S. Heslop-Harrison, S.K. Bohlander, K. Eggermann, M. Gencik, T.M. Dunn, R. Werdin, L. Setterfield, L. Walter, W. Vogel, M.P. Achary, K. Kainer, M. Schmid, S. Kußmann, R. Bendix, C. Nihoul-Feketé, K. Schiebel, W. Engel, S. Avenarius, B. Gharavi, E. Passarge, G. Tariverdian, H.L. Schulz, K. Trenz, D.K. Lamatsch, J. Frowein, P. Schütz, H. Neitzel, M.S. Magid, C. Steinlein, T. Grimm, J. Meder, T. Dörk, M. Fellous, M. Stumm, G. Senger, J.A. Alonzo, M.B. Petersen, H. Enders, M.L. Houck, S. Kümmerle, U. Grumpelt, R. Chaves, W. Mosgoeller, P.E. Warburton, A.T. Kumamoto, B. Schröder, R. Melcher, P.H. Yen, K. Kutsche, J.T. Epplen, C. Kelbova, H.G. Schwarzacher, D. Schlote, M. Döbler-Neumann, P.M. Chou, R. Brauner, F. Jaubert, J. Neesen, M. Proytcheva, B. Eiben, J. German, C. Reuter, J.J. Pasantes, G. Scherer, H. Winking, Y.-F.C. Lau, U. Zechner, V. Kalscheuer, Susumu Ohno, M. Winkelmann, A. Mannan, W. Jaggernauth, E. Reichl, P.S. Burgoyne, E. Glauner, S. Knauf, H. Przuntek, S.G. Somkuti, U. Müller, C. Baldermann, andK. Benirschke, C. Backsch, A. Gehrig, H. Stöhr, H.P. Klinger, M.M. Sanz, S. Fröhlich, M.J. Wakefield, T.O. Goecke, J.C. Iezzoni, C. Dixkens, M. Büsse, C. Althaus, R. Breuer, B. Levy, I. Nanda, A. Epplen, B. Vikram, E. Schnakenberg, P. Miny, R. Toder, L. Salas-Cortés, C. Groß, F. Vogel, P.R. Papenhausen, E.M. Bühler, A. Rump, U. Langenbeck, M. Schöning, W.K. Holloman, M. Schmidt, A. Alfieri, H. Collmann, S.C. Kingswood, K.R. Held, Helmut Baitsch, P. Burfeind, T. Haaf, J.A.M. Graves, E. Gross, S. Ebner, B.H.F. Weber, T. Sharma, K. Sperling, U. Klein-Vogler, J. Seidel, H. Guedes-Pinto, G. Speit, B. Petersen, J. Schmidtke, K. Hirschhorn, A.P. Singh, M. Krawczak, L.G. Kömüves, B. Halliger-Keller, M. Mikkelsen, N.B. Kardon, C. Fischer, W. Krone, J.S. Schinfeld, A. Schinzel, M. Rosemblatt, S.S. Wachtel, W. Kress, A.J. Kersten, C.R. Mueller, C. Saft, W. Schempp, A. Humeny, J.H. Tepperberg, N.B. Atkin, S. Schubert, H.M. Schüler, P. Wieacker, G.A. Rappold, R. von Golitschek, H. Bostelmann, J. Andrich, S. Röttger, P. Kaiser, M. Schartl, H. Hameister, C. Tyler-Smith, S.J. Charter, K. Fredga, E.P. Evans, H. Hoehn, D. Bächner, B. Skawran, U. Mittwoch, A. Rosenthal, A. Gal, S. Fallet, U. Drews, A. Pomarino, E. Günther, T. Schwarzacher, T.O. Schulz, S. Stengel-Rutkowski

Publikováno v: Cytogenetic and Genome Research. 91:308-309

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::89974e94ddc464ffe59edfbe3dc465f0
https://doi.org/10.1159/000056864

Correction to article in Vol 86:252–258 (1999)

Autor: B.J. Morris, R.T. Mulcahy, T. Taguchi, M. Nadal, M.Q. Islam, M.J. Ha, J. Scalzi-Martin, F. Nagai, C. Steinlein, P.A. Ioannou, Y. Endo, J. Weimer, L. Carim, R. Jiménez, J.F. Gui, J.Y. Le Gall, S. Aytay, A. Le Treut, J. Szpirer, R.J. Leach, Y. Zhao, K.P. Fung, S.K.W. Tsui, O. Cremona, D.J. Gilbert, O. Jaillon, C. Ozouf-Costaz, Y. Remache, S. Yoshida, C. Fischer, B. Peral, M. Burgos, N. Inoue, S. Minvielle, N. Berger, K. L. Puschus, A. Goy, A. Kovacic, K. Ilc, A.D. Bi, B. Dupont, R. Gong, L. Yin, T. Faraut, R. Díaz de la Guardia, A. Sánchez, S. Denis, A.C. Clase, P. Amati, L.L. Hansen, A.U. Christoff, J. Yang, P. Bray-Ward, L.D.S. Kok, J. Yoon, G. Calabrese, L. Sumoy, S.S. Siu, Y. Yonenaga-Yassuda, F.J. Lovicu, J. Demongeot, H.S. Kooistra, M. Breen, A.D. Zelenetz, L. Zhou, O. Cohen, S. Shiosaka, M.-A. Mermet, C. Szpirer, J.J. Gipp, M. Harada, Melissa C. Liechty, P. van Vooren, B.L. Barnoski, Y. Wang, W. Feichtinger, S. Cuccato, K. Fukasawa, G. Romeo, R. Giannini, M. Schmid, H. Tamura, H. Satoh, B.K. Hall, K. Gardiner, P De Camilli, J.-F. Laes, M.M. Chen, K. Islam, S. Zhao, B. Levy, N. Arnold, T. Mitsuya, M. Ravoet, W. Kim, T. Werner, A. Hirata, D.C. Ward, Y. Jacques, L van der Weyden, H. Roest Crollius, M. Escarceller, R. Corvi, C. Renier, M. Kiechle, C. Henry, A. Solans, T.M. Dunn, D.J. Adams, J. Justesen, A. Tosolini, H. Zhang, S.V. Reddy, H. Lührs, P. Miccoli, C.A. Moreira-Filho, V. Fagundes, K.E. McVeigh, G. Palka, F. Basolo, B.A. van Oost, C. Dasilva, Y.M. Lee, J.J. Mallee, E. Moon, F. Gilles, G.D. Roodman, L. Bouneau, R. Schaub, B. Toutain, M.L. Little, M. Bullejos, D.W. Cox, S.S. Murthy, L. Guenet, N.A. Jenkins, John Hozier, R. Cinti, S.D.P. Moore, I.S. Lantinga-van Leeuwen, A. Bernot, S. Wu, H.J. Kim, M.M.Y. Waye, L. Stuppia, R. Mural, J.A. Mol, C.R. Müller, F. Magrangeas, T. Menzel, G. Tate, F. Apiou, S. de la Luna, W. Scheppach, G. Torre, M. Gratacòs, G.T. Berry, L. Yu, S.-Y. Zhao, M. Matsui, C. Dubourg, J.R. Testa, C. Haffner, J. Weissenbach, A. Lucente, N. Kardon, X. Quan, R. Jørgensen, U. Weidle, C. M. Carpio, K.M. Fukasawa, V. David, A. Pizzuti, Q. Tu, N.G. Copeland, C. Bonillo, X. Estivill, M. Nimmakayalu, V. Gatta, R. Melcher, C.Y. Lee, J.C. Hozier, M.A. Pujana, J.E. Wiley, I. Fogh, A. Ratti, K. Hirschhorn, Y. Xu

Publikováno v: Cytogenetic and Genome Research. 88:168-169

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e57722eaa0a9d3121a81978bd72fb600
https://doi.org/10.1159/000015512