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

по Rappold, G A, Lehrach, H
Опубликовано 1988

P1 SHOX and limb development

по Tiecke, E, Blaschke, R, Tickle, C, Rappold, G
Опубликовано 2002

Chromosomal localisation of a pseudoautosomal growth gene(s).

по Ogata, T, Petit, C, Rappold, G, Matsuo, N, Matsumoto, T, Goodfellow, P
Опубликовано 1992

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

по Rappold, G A, Stubbs, L, Labeit, S, Crkvenjakov, R B, Lehrach, H
Опубликовано 1987

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

по Kirsch, S., Weiss, B, De Rosa, M, Ogata, T, Lombardi, G, Rappold, G
Опубликовано 2000

Rare SHANK2 variants in schizophrenia

по Peykov, S, Berkel, S, Degenhardt, F, Rietschel, M, Nöthen, M M, Rappold, G A
Опубликовано в: Mol Psychiatry (2015)

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

по Henke, A, Wapenaar, M, van Ommen, G J, Maraschio, P, Camerino, G, Rappold, G
Опубликовано 1991

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

по Gohlke, B, Haug, K, Fukami, M, Friedl, W, Noeker, M, Rappold, G, Haverkamp, F
Опубликовано 2000

Pseudoautosomal marker DXYS20 and manic depression.

по Nöthen, M M, Cichon, S, Erdmann, J, Körner, J, Rietschel, M, Rappold, G A, Fritze, J, Propping, P
Опубликовано 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

по Sabherwal, N, Blaschke, R, Marchini, A, Heine-Suner, D, Rosell, J, Ferragut, J, Blum, W, Rappold, G
Опубликовано 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.

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

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

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

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

по Bacon, C, Schneider, M, Le Magueresse, C, Froehlich, H, Sticht, C, Gluch, C, Monyer, H, Rappold, G A
Опубликовано в: Mol Psychiatry (2015)

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

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

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

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

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

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

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

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

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

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

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

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

Identification and functional characterization of rare SHANK2 variants in schizophrenia

по 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
Опубликовано в: Mol Psychiatry (2015)