Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation von Jensen, Lars Riff, Amende, Marion, Gurok, Ulf, Moser, Bettina, Gimmel, Verena, Tzschach, Andreas, Janecke, Andreas R., Tariverdian, Gholamali, Chelly, Jamel, Fryns, Jean-Pierre, Van Esch, Hilde, Kleefstra, Tjitske, Hamel, Ben, Moraine, Claude, Gécz, Jozef, Turner, Gillian, Reinhardt, Richard, Kalscheuer, Vera M., Ropers, Hans-Hilger, Lenzner, Steffen

Volltext

Maternal uniparental disomy 7 : review and further delineation of the phenotype von KOTZOT, D, BALMER, D, TARIVERDIAN, G, SCHINZEL, A, BAUMER, A, CHRZANOWSKA, K, HAMEL, B. C. J, ILYINA, H, KRAJEWSKA-WALASEK, M, LURIE, I. W, OTTEN, B. J, SCHOENLE, E

Volltext

The Novel Rho-GTPase Activating Gene MEGAP/srGAP3 Has a Putative Role in Severe Mental Retardation von Endris, Volker, Wogatzky, Birgit, Leimer, Uwe, Bartsch, Dusan, Zatyka, Malgorzata, Latif, Farida, Maher, Eamonn R., Tariverdian, Gholamali, Kirsch, Stefan, Karch, Dieter, Rappold, Gudrun A.

Volltext

Bildtafeln für die genetische Beratung von Tariverdian, Gholamali

Volltext

Agnathia-otocephaly complex: presentation of four cases von Schiffer, C., Tariverdian, G., Schiesser, M., Sergi, C.

Volltext

Some problems in the genetics of X-linked mental retardation von Tariverdian, G., Vogel, F.

Volltext

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome von HENNIES, Hans Christian, RAUCH, Anita, GIUGLIANI, Roberto, NEUMANN, Thomas E, ECKL, Katja M, KARBASIYAN, Mohsen, REIS, André, HORN, Denise, SEIFERT, Wenke, SCHUMI, Christian, MOSER, Elisabeth, AL-TAJI, Eva, TARIVERDIAN, Gholamali, CHRZANOWSKA, Krystyna H, KRAJEWSKA-WALASEK, Malgorzata, RAJAB, Anna

Volltext

Molecular studies of an X;Y translocation chromosome in a woman with deletion of the pseudoautosomal region but normal height von Spranger, S., Kirsch, S., Mertz, A., Schiebel, K., Tariverdian, G., Rappold, G.A.

Volltext

Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene von DRECHSLER, M, MEIJERS-HEIJBOER, E. J, ROYER-POKORA, B, SCHNEIDER, S, SCHURICH, B, GROND-GINSBACH, C, TARIVERDIAN, G, KANTNER, G, BLANKENAGEL, A, KAPS, D, SCHROEDER-KURTH, T

Volltext

Microcephalic osteodysplastic primordial dwarfism type II : a child with unusual symptoms and clinical course von SPRANGER, S, TARIVERDIAN, G, ALBERT, F. K, SONTHEIMER, D, ZÖLLER, J, WEBER, M, TRÖGER, J

Volltext

Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses von RIESEWIJK, A. M, HU, L, SCHULZ, U, TARIVERDIAN, G, HÖGLUND, P, KERE, J, ROPERS, H.-H, KALSCHEUER, V. M

Volltext

Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course von Spranger, S, Tariverdian, G, Albert, F K, Sontheimer, D, Zöller, J, Weber, M, Tröger, J

Volltext

Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) in... von POPP, Susanne, SCHULZE, Birgit, KEARNEY, Lyndal, JAUCH, Anna, GRANZOW, Martin, KELLER, Monika, HOLTGREVE-GREZ, Heidi, SCHOELL, Brigitte, BROUGH, Michaela, HAGER, Hans-Dieter, TARIVERDIAN, Gholamali, BROWN, Jill

Volltext

A monozygotic twin pair with Rett syndrome von TARIVERDIAN, G, KANTNER, G, VOGEL, F

Volltext

Humangenetik: Begleittext zum Gegenstandskatalog von Buselmaier, Werner, Tariverdian, Gholamali

Volltext

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families von STEINBACH, P, WÖHRLE, D, KIRCHEISEN, R, MAJEWSKI, F, MEINECKE, P, PASSARGE, E, SCHMIDT, A, SEIDEL, H, WOLFF, G, ZANKL, M, TARVERDIAN, G, KENNERKNECHT, I, BARBI, G, EDLINGER, H, ENDERS, H, GÖTZ-SOTHMANN, M, HEILBRONNER, H, HOSENFELD, D

Volltext

Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals von GRANZOW, M, POPP, S, KELLER, M, HOLTGREVE-GREZ, H, BROUGH, M, SCHOELL, B, RAUTERBERG-RULAND, I, HAGER, H.-D, TARIVERDIAN, G, JAUCH, A

Volltext

Survival up to age 10 years in a patient with partial duplication 6q: case report and review of the literature von Seel, Cornelia, Hager, Hans-Dieter, Jauch, Anna, Tariverdian, Gholamali, Zschocke, Johannes

Volltext

Prenatal enzymatic diagnosis and exclusion of Krabbe's disease (globoid-cell leukodystrophy) using chorionic villi in five risk pregnancies von HARZER, K, HAGER, H.-D, TARIVERDIAN, G

Volltext

Tapetoretinal degeneration in brothers with apparent Cohen syndrome: Nosology with Mirhosseini-Holmes-Walton syndrome von Steinlein, O., Tariverdian, G., Boll, H. U., Vogel, F.

Volltext