Risultati della ricerca - Rappold, G

A long range restriction map of the pseudoautosomal region by partial digest PFGE analysis from the telomere. di Rappold, G A, Lehrach, H

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P1 SHOX and limb development di Tiecke, E, Blaschke, R, Tickle, C, Rappold, G

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Chromosomal localisation of a pseudoautosomal growth gene(s). di Ogata, T, Petit, C, Rappold, G, Matsuo, N, Matsumoto, T, Goodfellow, P

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FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY di Kirsch, S., Weiss, B, De Rosa, M, Ogata, T, Lombardi, G, Rappold, G

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Identification of a testis-specific gene from the mouse t-complex next to a CpG-rich island. di Rappold, G A, Stubbs, L, Labeit, S, Crkvenjakov, R B, Lehrach, H

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Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. di Henke, A, Wapenaar, M, van Ommen, G J, Maraschio, P, Camerino, G, Rappold, G

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Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy di Gohlke, B, Haug, K, Fukami, M, Friedl, W, Noeker, M, Rappold, G, Haverkamp, F

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Pseudoautosomal marker DXYS20 and manic depression. di Nöthen, M M, Cichon, S, Erdmann, J, Körner, J, Rietschel, M, Rappold, G A, Fritze, J, Propping, P

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A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasia di Sabherwal, N, Blaschke, R, Marchini, A, Heine-Suner, D, Rosell, J, Ferragut, J, Blum, W, Rappold, G

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Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere di Kirsch, S, Weiss, B, Kleiman, S, Roberts, K, Pryor, J, Milunsky, A, Ferlin, A, Foresta, C, Matthijs, G, Rappold, G

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Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behaviour di Bacon, C, Schneider, M, Le Magueresse, C, Froehlich, H, Sticht, C, Gluch, C, Monyer, H, Rappold, G A

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c-myc and immunoglobulin kappa light chain constant genes are on the 8q+ chromosome of three Burkitt lymphoma lines with t(2;8) translocations. di Rappold, G A, Hameister, H, Cremer, T, Adolph, S, Henglein, B, Freese, U K, Lenoire, G M, Bornkamm, G W

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Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms di Muncke, N, Wogatzky, B, Breuning, M, Sistermans, E, Endris, V, Ross, M, Vetrie, D, Catsman-Berrevoet..., C, Rappold, G

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Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain di Chen, J, Wildhardt, G, Zhong, Z, Röth, R, Weiss, B, Steinberger, D, Decker, J, Blum, W F, Rappold, G

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Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood di Flanagan, S, Munns, C, Hayes, M, Williams, B, Berry, M, Vickers, D, Rao, E, Rappold, G, Batch, J, Hyland, V, Glass, I

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5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability di Kleffmann, W., Zink, A.M., Lee, J.A., Senderek, J., Mangold, E., Moog, U., Rappold, G.A., Wohlleber, E., Engels, H.

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Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male di Stuppia, L, Calabrese, G, Borrelli, P, Gatta, V, Morizio, E, Mingarelli, R, Di, G, Crino, A, Giannotti, A, Rappold, G, Palka, G

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The HTR3A polymorphism c. -42C>T is Associated with Amygdala Responsiveness in Patients with Irritable Bowel Syndrome di Kilpatrick, LA, Labus, JS, Coveleskie, K, Hammer, C, Rappold, G, Tillisch, K, Bueller, JA, Suyenobu, B, Jarcho, JM, McRoberts, JA, Niesler, B, Mayer, EA

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The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences di Sargent, C., Boucher, C., Kirsch, S., Brown, G., Weiss, B., Trundley, A., Burgoyne, P., Saut, N., Durand, C., Levy, N., Terriou, P., Hargreave, T., Cooke, H., Mitchell, M., Rappold, G., Affara, N.

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Replication of functional serotonin receptor type 3A and B variants in bipolar affective disorder: a European multicenter study di Hammer, C, Cichon, S, Mühleisen, T W, Haenisch, B, Degenhardt, F, Mattheisen, M, Breuer, R, Witt, S H, Strohmaier, J, Oruc, L, Rivas, F, Babadjanova, G, Grigoroiu-Serbanescu, M, Hauser, J, Röth, R, Rappold, G, Rietschel, M, Nöthen, M M, Niesler, B

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