Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Por Bartsch, O, Locher, K, Meinecke, P, Kress, W, Seemanova, E, Wagner, A, Ostermann, K, Rodel, G
Publicado em 2002

The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.

Por Stumm, M, Gatti, R A, Reis, A, Udar, N, Chrzanowska, K, Seemanova, E, Sperling, K, Wegner, R D
Publicado em 1995

Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours.

Por Sedlacek, Z., Kodet, R., Kriz, V., Seemanova, E., Vodvarka, P., Wilgenbus, P., Mares, J., Poustka, A., Goetz, P.
Publicado em 1998

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability

Por Seemanová, E, Sperling, K, Neitzel, H, Varon, R, Hadac, J, Butova, O, Schröck, E, Seeman, P, Digweed, M
Publicado em 2006

Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).

Por Dahl, N, Goonewardena, P, Malmgren, H, Gustavson, K H, Holmgren, G, Seemanova, E, Annerén, G, Flood, A, Pettersson, U
Publicado em 1989

Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families.

Por Stein, J, Mulliken, J B, Stal, S, Gasser, D L, Malcolm, S, Winter, R, Blanton, S H, Amos, C, Seemanova, E, Hecht, J T
Publicado em 1995

Nonsyndromic cleft lip with or without cleft palate: erratum.

Por Amos, C., Stein, J., Mulliken, J. B., Stal, S., Malcolm, S., Winter, R., Blanton, S. H., Seemanova, E., Gasser, D. L., Hecht, J. T.
Publicado em 1996

Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies

Por Kortüm, F., Chyrek, M., Fuchs, S., Albrecht, B., Gillessen-Kaesbach, G., Mütze, U., Seemanova, E., Tinschert, S., Wieczorek, D., Rosenberger, G., Kutsche, K.
Publicado em 2011

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21.

Por Saar, K, Chrzanowska, K H, Stumm, M, Jung, M, Nürnberg, G, Wienker, T F, Seemanová, E, Wegner, R D, Reis, A, Sperling, K
Publicado em 1997

Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies

Por Kessler, K, Falk, N, Wunderlich, I, Fröhlich, M, Hauer, N, Gießl, A, Brandstätter, JH, Sticht, H, Ekici, AB, Uebe, S, Seemanová, E, Reis, A, Roepman, R, Thiel, C
Publicado no Cilia (2015)

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

Por Kohlhase, J, Taschner, P E, Burfeind, P, Pasche, B, Newman, B, Blanck, C, Breuning, M H, ten Kate, L P, Maaswinkel-Mooy, P, Mitulla, B, Seidel, J, Kirkpatrick, S J, Pauli, R M, Wargowski, D S, Devriendt, K, Proesmans, W, Gabrielli, O, Coppa, G V, Wesby-van Swaay, E, Trembath, R C, Schinzel, A A, Reardon, W, Seemanova, E, Engel, W
Publicado em 1999

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

Por Van Maldergem, L, Magre, J, Khallouf, T, Gedde-Dahl, T, Delepine, M, Trygstad, O, Seemanova, E, Stephenson, T, Albott, C, Bonnici, F, Panz, V, Medina, J, Bogalho, P, Huet, F, Savasta, S, Verloes, A, Robert, J, Loret, H, de Kerdanet, M, Tubiana-Rufi, N, Megarbane, A, Maassen, J, Polak, M, Lacombe, D, Kahn, C, Silveira, E, D'Abronzo, F, Grigorescu, F, Lathrop, M, Capeau, J, O'Rahilly, S
Publicado em 2002