Výsledky vyhledávání

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction

Publikováno v: Clinical Genetics, 89(5), 564-573. Wiley-Blackwell Publishing Ltd
Clinical Genetics
Clinical Genetics, Wiley, 2016, 89 (5), pp.564-573. ⟨10.1111/cge.12717⟩
Clinical Genetics, 2016, 89 (5), pp.564-573. ⟨10.1111/cge.12717⟩

International audience; Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous disorder characterized by typical facial dysmorphism, cognitive impairment and multiple congenital anomalies. Approximately 75% of patients carry a variant in one

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e59bb9753566cf4c587bcbcc9e5a3167
http://hdl.handle.net/10807/115198

Zobrazit plný text záznamu

Mikrodeletionssyndrom 9q34 – ein charakteristischer Phänotyp

Autor: Diana Mitter, Gabriele Gillessen-Kaesbach, K. Buiting

Publikováno v: Monatsschrift Kinderheilkunde. 155:741-746

Das Mikrodeletionssyndrom 9q34 ist ein an Bedeutung zunehmendes Krankheitsbild mit einem charakteristischen Phanotyp. Die Patienten zeigen eine Mikrozephalie, angeborene Herzfehler, muskulare Hypotonie, eine masige bis starke mentale Retardierung und

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1b44ad6bac1306fffe3013268b5c94fb
https://doi.org/10.1007/s00112-007-1531-8

Zobrazit plný text záznamu

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Contents, Vol. 76, 1997

Autor: D. Birnbaum, N.Z. Parsa, C. Flores, A.G. Shilov, B. Sèle, U. Claussen, M. Gastaldi, J. Zimmer, B. Andréo, A.F. Markham, D.T. Bonthron, H.S. Tenenhouse, H. Lovec, O.I. Olopade, R. Hernandez, D. Adrian, S. Rousseaux, A. Frady, N.B. Rubtsov, M. Goldfarb, J.M. Trent, K.J. Gratton, B.G. Beatty, P. Eydoux, N. Tommerup, M. Schmid, D.R. Lohmann, J. Benet, S.K. Bohlander, N.V. Rubtsova, A. Girardet, P. Mühlig, T.P. Moynihan, D. Stephan, R. Hliscs, M.H. Dreyling, Y. Zhu, J. Torresani, J. Navarro, J.P. Grillasca, X.-Y. Zhang, N.T. Bech-Hansen, W. Jiang, M. Dean, H.H. Quek, G.J. Pappanicolaou, B. Wainwright, J.P. Charlieu, H. Hartung, S.M. Zakian, M.A. Peters, J.L. Coate, M.B. Qumsiyeh, C. Wicking, P. Bray-Ward, S. Taviaux, J. Wirth, G. Valle, M. Ehrlich, T. Muraro, R.A. Gravel, N.J. Lench, F. Yang, R. Zimbello, J.A. Peppers, E. Chevret, I. Garkavtsev, B. Horsthemke, F. Coulier, C. Pressman, X.X. Zhang, T.B. Nesterova, A-S. Verdier, A.A. Isaenko, S. Mori, S. Levanat, K. Riabowol, A. Sahota, G. Lefort, D. Demetrick, M-G. Matté, P.C.M. O’Brien, E.H. Hoffman, J.L VandeBerg, V.T.K. Chow, J. Cozzi, R. Planells, J. Wienberg, I. Parra, H. Satoh, K. Sperling, K. Buiting, K.L. Stoddart, A. León-Del-Rio, J. Weissenbach, A.E. Bale, M.R. Gailani, H.-J. Lüdecke, J.A. Tischfield, N.V. Vorobieva, P.S. Meltzer, G. Scherer, M-G. Mattéi, B. Windle, E.J. Taparowsky, A. Chidambaram, G. Lanfranch, H. Leffers, J.P. Leek, A.S. Hewson, R. Toftgard, E. Back, N. Tiso, M.L. Kennedy, G.A. Danieli, M. Varela, M.R. Martorell, T. Wagner, R. Anwar, P.K. Gupta, C. Shao, F. Pellestor, K.M. Boycott, E.H. McConkey, C. Márquez, J.C. Myers, B.J. Moore, I. Nanda, M. Monteil, J. Egozcue, N.M. Matveeva, P.K. Kennedy, M.A. Ferguson-Smith, B. Roland, R. Pelletier

Publikováno v: Cytogenetic and Genome Research. 76:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::36ba6962db72245588b61c273f0c1732
https://doi.org/10.1159/000134527

Zobrazit plný text záznamu

Contents, Vol. 75, 1996

Autor: R.P.M. van Gijlswijk, B. Horsthemke, K. Buiting, Y. Nobukuni, P.M.A. Groenen, J.-E. Ikeda, L. Sánchez, J.A. Tischfield, N.C. Stowell, J. Castro, P.M. Kroisel, E.H. Goodwin, M. Zanetti, S.M. Jhiang, C.M. Kammerer, M.N. Cornforth, A. Viñas, T.S. McConnell, C. Shao, S. Kajigaya, A.A. Perelygin, A. Besner-Johnston, R.G. Korneluk, J.P. Fryns, K. Devriendt, J.F. Cheng, C. Lefebvre, Q. Tong, P. Martínez, N. Iwata, Q. Duh, W.J.M. Van de Ven, B. Castiglioni, A. Sahota, A. Watanabe, B. O’Brien, O.H. Clark, J. Rogers, B. Ploplis, E. Rajcan-Separovic, A.J.M. Roebroek, A. MacKenzie, R. Thoelen, Constantinos Deltas, G.H. Jossart, L. Ferretti, J. Wiegant, S.M. Bailey, J.-W.H.P. van de Loo, P.C. Patsalis, A.D. Roses, J.W.M. Creemers, S. Munné, S. Kaya-Westerloh, P.A. loannou, H.-U.G. Weier, Y. Sun, E.F.P.M. Schoenmakers, M. Tachibana, P.K. Gupta, M. Aly, A.K. Raap, R. Vervenne, J. Meyne, K. Kas, M. Hadjimarcou, H.J. Tanke, M. Scocchi, E. Garcia, J.E. Lee, M.S. Mahadevan, R. Lasan, E. Bashiardes

Publikováno v: Cytogenetic and Genome Research. 75:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0c4a7f88d96c136c08859ec5a1b0fe1f
https://doi.org/10.1159/000134483

Zobrazit plný text záznamu

Silver-Russell Syndrom-Stufen der molekulargenetischen Diagnostik

Autor: S Dammann, D Gläser, I Löttrich, A Artlich, K Buiting

Publikováno v: Klinische Pädiatrie. 223

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fd8621d2e130d2d3162f9c2fc442249f
https://doi.org/10.1055/s-0031-1273925

Zobrazit plný text záznamu

Recurrent deletion of a region containing exon 24 of the RB1 gene caused by non-homologous recombination between a LINE-1HS and MER21B element

Autor: J Bode, A K Prashanth, Dietmar R. Lohmann, P Albrecht, K Buiting

Publikováno v: Journal of medical genetics. 41(12)

1 For only few of these mutations, breakpoints have been determined at the sequence level because this information is often of little relevance in clinical diagnostics. Those gross deletions that have been analysed in greater detail most often show D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7795213906c53b284597279d311b0fde
https://pubmed.ncbi.nlm.nih.gov/15591264

Zobrazit plný text záznamu

Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment

Autor: C, Windpassinger, E, Petek, K, Wagner, A, Langmann, K, Buiting, P M, Kroisel

Publikováno v: Clinical genetics. 63(4)

We report a 2-year-old boy with Prader-Willi Syndrome (PWS) caused by a deletion of the PWS critical region as a result of an unbalanced translocation t(3;15). Additional features, including central visual impairment, relative macrocephaly, retrognat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f5bd4cdd63188e01d3aaefd9f5b030a2
https://pubmed.ncbi.nlm.nih.gov/12702163

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání