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2004

Response to correspondence by Dr. Finsterer and Dr. Stoellberger: Heterogenous myopathic background of left ventricular hypertrabeculation/noncompaction.
Thierfelder, L. and Sasse-Klaassen, S. and Gerull, B. and 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. and Smolka, M. and Samochowiec, J. and Ziller, M. and Mahlberg, R. and Gallinat, J. and Rommelspacher, H.P. and 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. and Happle, R. and 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. and Barbon, A. and Kretz, R. and 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. and Sander, T. and Rajan, S. and Preisig-Muller, R. and Grzeschik, K.H. and Daut, J. and 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. and Windemuth, C. and Schulz, H. and Saar, K. and Gennaro, E. and Bianchi, A. and Zara, F. and Bulteau, C. and Kaminska, A. and Ville, D. and Cieuta, C. and Prud'homme, J.F. and Dulac, O. and Bate, L. and Gardiner, R.M. and de Haan, G.J. and Janssen, G.A.M.A. and Witte, J. and Halley, D.J.J. and Lindhout, D. and 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. and 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. and 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. and Becker-Follmann, J. and Nuernberg, G. and Rueschendorf, F. and Sieweke, N. and Huegens-Penzel, M. and Traupe, H. and Wienker, T.F. and 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. and Meyer, J. and Nanda, I. and Wienker, T.F. and Saar, K. and Knapp, M. and Jatzke, S. and Schmid, M. and 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. and Krebsova, A. and 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. and Durner, M. and 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. and Jendroska, K. and Kreuz, F. and Wirth, T. and Schafranka, C. and Karnatz, N. and Theallier-Janko, A. and Dreier, J. and Lohan, K. and Emmerich, D. and Cervos-Navarro, J. and Windl, O. and Kretzschmar, H.A. and 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. and Gewies, A. and Lehmann, R. and Ruether, K. and Algermissen, B. and 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. and Schulz, H. and Vieira-Saeker, A.M.M. and Bianchi, A.M. and Sailer, U. and Bauer, G. and Scaramelli, A. and Wienker, T.F. and Saar, K. and Reis, A. and Janz, D. and 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. and Gerl, H. and Gewies, A. and 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. and Peters, H. and Hoffmeyer, S. and Buske, A. and Lueder, A. and Hess, D. and Lehmann, R. and 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. and Wendel, B. and Grunewald, I. and Chiaroni, P. and Levy, N. and Morris-Rosendahl, D. and Macher, J.P. and 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. and Hofbeck, M. and Baehring, S. and Leipold, G. and Trautmann, U. and 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. and Hildmann, T. and Kretz, R. and Fuerst, R. and Sailer, U. and Bauer, G. and Schmitz, B. and Beck-Mannagetta, G. and 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. and Kunze, J. and 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. and Hildmann, T. and Wienker, T.F. and Ramel, C. and Beckmannagetta, G. and Bianchi, A. and Sailer, U. and Berek, K. and Bauer, G. and Neitzel, H. and Schmitz, B. and Durner, M. and 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. and Reis, A. and Lalande, M.
American Journal of Medical Genetics 53 : 396-398. 1 January 1994

This list was generated on Sat Nov 17 02:22:55 2018 CET.
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