A long range restriction map of the pseudoautosomal region by partial digest PFGE analysis from the telomere.

Tekijä Rappold, G A, Lehrach, H
Julkaistu 1988

P1 SHOX and limb development

Tekijä Tiecke, E, Blaschke, R, Tickle, C, Rappold, G
Julkaistu 2002

Chromosomal localisation of a pseudoautosomal growth gene(s).

Tekijä Ogata, T, Petit, C, Rappold, G, Matsuo, N, Matsumoto, T, Goodfellow, P
Julkaistu 1992

Identification of a testis-specific gene from the mouse t-complex next to a CpG-rich island.

Tekijä Rappold, G A, Stubbs, L, Labeit, S, Crkvenjakov, R B, Lehrach, H
Julkaistu 1987

FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY

Tekijä Kirsch, S., Weiss, B, De Rosa, M, Ogata, T, Lombardi, G, Rappold, G
Julkaistu 2000

Rare SHANK2 variants in schizophrenia

Tekijä Peykov, S, Berkel, S, Degenhardt, F, Rietschel, M, Nöthen, M M, Rappold, G A
Julkaisussa Mol Psychiatry (2015)

Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth.

Tekijä Henke, A, Wapenaar, M, van Ommen, G J, Maraschio, P, Camerino, G, Rappold, G
Julkaistu 1991

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

Tekijä Gohlke, B, Haug, K, Fukami, M, Friedl, W, Noeker, M, Rappold, G, Haverkamp, F
Julkaistu 2000

Pseudoautosomal marker DXYS20 and manic depression.

Tekijä Nöthen, M M, Cichon, S, Erdmann, J, Körner, J, Rietschel, M, Rappold, G A, Fritze, J, Propping, P
Julkaistu 1993

A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasia

Tekijä Sabherwal, N, Blaschke, R, Marchini, A, Heine-Suner, D, Rosell, J, Ferragut, J, Blum, W, Rappold, G
Julkaistu 2004

c-myc and immunoglobulin kappa light chain constant genes are on the 8q+ chromosome of three Burkitt lymphoma lines with t(2;8) translocations.

Tekijä Rappold, G A, Hameister, H, Cremer, T, Adolph, S, Henglein, B, Freese, U K, Lenoire, G M, Bornkamm, G W
Julkaistu 1984

Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere

Tekijä Kirsch, S, Weiss, B, Kleiman, S, Roberts, K, Pryor, J, Milunsky, A, Ferlin, A, Foresta, C, Matthijs, G, Rappold, G
Julkaistu 2002

Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behaviour

Tekijä Bacon, C, Schneider, M, Le Magueresse, C, Froehlich, H, Sticht, C, Gluch, C, Monyer, H, Rappold, G A
Julkaisussa Mol Psychiatry (2015)

Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms

Tekijä Muncke, N, Wogatzky, B, Breuning, M, Sistermans, E, Endris, V, Ross, M, Vetrie, D, Catsman-Berrevoet..., C, Rappold, G
Julkaistu 2004

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

Tekijä Chen, J, Wildhardt, G, Zhong, Z, Röth, R, Weiss, B, Steinberger, D, Decker, J, Blum, W F, Rappold, G
Julkaistu 2009

Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood

Tekijä Flanagan, S, Munns, C, Hayes, M, Williams, B, Berry, M, Vickers, D, Rao, E, Rappold, G, Batch, J, Hyland, V, Glass, I
Julkaistu 2002

5q31 Microdeletions: Definition of a Critical Region and Analysis of LRRTM2, a Candidate Gene for Intellectual Disability

Tekijä Kleffmann, W., Zink, A.M., Lee, J.A., Senderek, J., Mangold, E., Moog, U., Rappold, G.A., Wohlleber, E., Engels, H.
Julkaistu 2012

Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male

Tekijä Stuppia, L, Calabrese, G, Borrelli, P, Gatta, V, Morizio, E, Mingarelli, R, Di, G, Crino, A, Giannotti, A, Rappold, G, Palka, G
Julkaistu 1999

The HTR3A polymorphism c. -42C>T is Associated with Amygdala Responsiveness in Patients with Irritable Bowel Syndrome

Tekijä Kilpatrick, LA, Labus, JS, Coveleskie, K, Hammer, C, Rappold, G, Tillisch, K, Bueller, JA, Suyenobu, B, Jarcho, JM, McRoberts, JA, Niesler, B, Mayer, EA
Julkaistu 2011

Identification and functional characterization of rare SHANK2 variants in schizophrenia

Tekijä Peykov, S, Berkel, S, Schoen, M, Weiss, K, Degenhardt, F, Strohmaier, J, Weiss, B, Proepper, C, Schratt, G, Nöthen, M M, Boeckers, T M, Rietschel, M, Rappold, G A
Julkaisussa Mol Psychiatry (2015)