Browse by Journal Title

2004

Response to correspondence by Dr. Finsterer and Dr. Stoellberger: Heterogenous myopathic background of left ventricular hypertrabeculation/noncompaction.
Thierfelder, L., Sasse-Klaassen, S., Gerull, B., Jenni, R. and Oechslin, E.
American Journal of Medical Genetics 131A : 222-223. 2 November 2004

2003

Association of EEG coherence and an exonic GABABR1 gene polymorphism.
Winterer, G., Smolka, M., Samochowiec, J., Ziller, M., Mahlberg, R., Gallinat, J., Rommelspacher, H.P., Herrmann, W.M. and Sander, T.
American Journal of Medical Genetics 117B (1): 51-56. 1 February 2003

2002

Pigmentary mosaicism of the hyperpigmented type in two half-brothers.
Horn, D., Happle, R., Neitzel, H. and Kunze, J.
American Journal of Medical Genetics 112 (1): 65-69. 15 September 2002

Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure.
Izzi, C., Barbon, A., Kretz, R., Sander, T. and Barlati, S.
American Journal of Medical Genetics 114 : 354-359. 8 April 2002

Tandem pore domain K+-channel TASK-3 (KCNK9) and idiopathic absence epilepsies.
Kananura, C., Sander, T., Rajan, S., Preisig-Muller, R., Grzeschik, K.H., Daut, J., Derst, C. and Steinlein, O.K.
American Journal of Medical Genetics 114 : 227-229. 8 March 2002

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1.
Sander, T., Windemuth, C., Schulz, H., Saar, K., Gennaro, E., Bianchi, A., Zara, F., Bulteau, C., Kaminska, A., Ville, D., Cieuta, C., Prud'homme, J.F., Dulac, O., Bate, L., Gardiner, R.M., de Haan, G.J., Janssen, G.A.M.A., Witte, J., Halley, D.J.J., Lindhout, D., Wienker, T.F. and Janz, D.
American Journal of Medical Genetics 114 : 673-678. 1 January 2002

2001

Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies.
Sobetzko, D., Sander, T. and Becker, C.M.
American Journal of Medical Genetics 105 : 534-538. 8 August 2001

Metaphyseal dysplasia: a new autosomal dominant type in a large German kindred.
Braun, H.S., Nuernberg, P. and Tinschert, S.
American Journal of Medical Genetics 101 : 74-77. 1 June 2001

Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma.
Niemann, S., Becker-Follmann, J., Nuernberg, G., Rueschendorf, F., Sieweke, N., Huegens-Penzel, M., Traupe, H., Wienker, T.F., Reis, A. and Mueller, U.
American Journal of Medical Genetics 98 (1): 32-36. 1 January 2001

2000

Linkage and family-based association study of schizophrenia and the synapsin III locus that maps to chromosome 22q13.
Stoeber, G., Meyer, J., Nanda, I., Wienker, T.F., Saar, K., Knapp, M., Jatzke, S., Schmid, M., Lesch, K.P. and Beckmann, H.
American Journal of Medical Genetics 96 (3): 392-397. 12 June 2000

Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: Redefining a clinical entity.
Horn, D., Krebsova, A., Kunze, J. and Reis, A.
American Journal of Medical Genetics 92 (4): 285-292. 5 June 2000

Mutation analysis of the inwardly rectifying K+ channels KCNJ6 (GIRK2) and KCNJ3 (GIRK1) in juvenile myoclonic epilepsy.
Hallmann, K., Durner, M., Sander, T. and Steinlein, O.K.
American Journal of Medical Genetics 96 : 8-11. 7 February 2000

1999

Novel twelve-generation kindred of fatal familial insomnia from germany representing the entire spectrum of disease expression.
Harder, A., Jendroska, K., Kreuz, F., Wirth, T., Schafranka, C., Karnatz, N., Theallier-Janko, A., Dreier, J., Lohan, K., Emmerich, D., Cervos-Navarro, J., Windl, O., Kretzschmar, H.A., Nuernberg, P. and Witkowski, R.
American Journal of Medical Genetics 87 : 311-316. 3 December 1999

Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1).
Buske, A., Gewies, A., Lehmann, R., Ruether, K., Algermissen, B., Nuernberg, P. and Tinschert, S.
American Journal of Medical Genetics 86 : 328-330. 8 October 1999

Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14.
Sander, T., Schulz, H., Vieira-Saeker, A.M.M., Bianchi, A.M., Sailer, U., Bauer, G., Scaramelli, A., Wienker, T.F., Saar, K., Reis, A., Janz, D., Epplen, J.T. and Riess, O.
American Journal of Medical Genetics 88 : 182-187. 16 April 1999

McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient.
Tinschert, S., Gerl, H., Gewies, A., Jung, H.P. and Nuernberg, P.
American Journal of Medical Genetics 83 : 100-108. 12 March 1999

Two independent mutations in a family with neurofibromatosis type 1 (NF1).
Klose, A., Peters, H., Hoffmeyer, S., Buske, A., Lueder, A., Hess, D., Lehmann, R., Nuernberg, P. and Tinschert, S.
American Journal of Medical Genetics 83 : 6-12. 5 March 1999

1998

Serotonin transporter (5-HTT) gene polymorphisms are not associated with susceptibility to mood disorders: Brief Research Communication.
Hoehe, M.R., Wendel, B., Grunewald, I., Chiaroni, P., Levy, N., Morris-Rosendahl, D., Macher, J.P., Sander, T. and Crocq, M.A.
American Journal of Medical Genetics 81 (1): 1-3. 7 February 1998

Monozygotic twins concordant for Cayler syndrome - Brief clinical report.
Rauch, A., Hofbeck, M., Bähring, S., Leipold, G., Trautmann, U., Singer, H. and Pfeiffer, R.A.
American Journal of Medical Genetics 75 : 113-117. 1 January 1998

1997

Allelic association of juvenile absence epilepsy with a glur5 kainate receptor gene (grik1) polymorphism.
Sander, T., Hildmann, T., Kretz, R., Fuerst, R., Sailer, U., Bauer, G., Schmitz, B., Beck-Mannagetta, G., Wienker, T.F. and Janz, D.
American Journal of Medical Genetics 74 : 416-421. 1 January 1997

1996

Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.
Buerger, J., Kunze, J., Sperling, K. and Reis, A.
American Journal of Medical Genetics 66 : 221-226. 1 January 1996

Common subtypes of idiopathic generalized epilepsies: lack of linkage to d20s19 close to candidate loci (ebn1, eegv1) on chromosome 20.
Sander, T., Hildmann, T., Wienker, T.F., Ramel, C., Beckmannagetta, G., Bianchi, A., Sailer, U., Berek, K., Bauer, G., Neitzel, H., Schmitz, B., Durner, M., Johnson, K.J. and Janz, D.
American Journal of Medical Genetics 67 (1): 31-39. 1 January 1996

1994

The critical region for Angelman syndrome lies between D15S122 and D15S113.
Greger, V., Reis, A. and Lalande, M.
American Journal of Medical Genetics 53 : 396-398. 1 January 1994