Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism von Avela, Kristiina, Lipsanen-Nyman, Marita, Idänheimo, Niina, Seemanová, Eva, Rosengren, Sally, Mäkelä, Tomi P, Perheentupa, Jaakko, Chapelle, Albert de la, Lehesjoki, Anna-Elina

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Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability von Seemanová, E, Sperling, K, Neitzel, H, Varon, R, Hadac, J, Butova, O, Schröck, E, Seeman, P, Digweed, M

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Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness von Seeman, P, Malíková, M, Rašková, D, Bendová, O, Groh, D, Kubálková, M, Sakmaryová, I, Seemanová, E, Kabelka, Z

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

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Nijmegen breakage syndrome von The, I

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Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP von Bartsch, O, Locher, K, Meinecke, P, Kress, W, Seemanová, E, Wagner, A, Ostermann, K, Rödel, G

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Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome von Varon, Raymonda, Vissinga, Christine, Platzer, Matthias, Cerosaletti, Karen M, Chrzanowska, Krystyna H, Saar, Kathrin, Beckmann, Georg, Seemanová, Eva, Cooper, Paul R, Nowak, Norma J, Stumm, Markus, Weemaes, Corry M.R, Gatti, Richard A, Wilson, Richard K, Digweed, Martin, Rosenthal, André, Sperling, Karl, Concannon, Patrick, Reis, André

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Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibroma... von Bartsch, O., Vlčková, Z., Erdogan, F., Ullmann, R., Novotná, D., Spiegel, M., Beyer, V., Haaf, T., Zechner, U., Seemanová, E.

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The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21 von SAAR, K, CHRZANOWSKA, K. H, STUMM, M, JUNG, M, NÜRNBERG, G, WIENKER, T. F, SEEMANOVA, E, WEGNER, R.-D, REIS, A, SPERLING, K

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Hypocretin deficiency in Prader-Willi syndrome von Nevsimalova, S., Vankova, J., Stepanova, I., Seemanova, E., Mignot, E., Nishino, S.

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Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome von Schulz, AL, Albrecht, B, Arici, C, Van Der Burgt, I, Buske, A, Gillessen-Kaesbach, G, Heller, R, Horn, D, Hübner, CA, Korenke, GC, König, R, Kress, W, Krüger, G, Meinecke, P, Mücke, J, Plecko, B, Rossier, E, Schinzel, A, Schulze, A, Seemanova, E, Seidel, H, Spranger, S, Tuysuz, B, Uhrig, S, Wieczorek, D, Kutsche, K, Zenker, M

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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type von VAN MALDERGEM, L, YUKSEL-APAK, M, JAEKEN, J, MUNDLOS, S, DOBYNS, W. B, KAYSERILI, H, SEEMANOVA, E, GIURGEA, S, BASEL-VANAGAITE, L, LEAO-TELES, E, VIGNERON, J, FOULON, M, GREALLY, M

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Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations von Witsch-Baumgartner, M, Schwentner, I, Gruber, M, Benlian, P, Bertranpetit, J, Bieth, E, Chevy, F, Clusellas, N, Estivill, X, Gasparini, G, Giros, M, Kelley, R I, Krajewska-Walasek, M, Menzel, J, Miettinen, T, Ogorelkova, M, Rossi, M, Scala, I, Schinzel, A, Schmidt, K, Schönitzer, D, Seemanova, E, Sperling, K, Syrrou, M, Talmud, P J, Wollnik, B, Krawczak, M, Labuda, D, Utermann, G

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Cancer Risk of Heterozygotes With the NBN Founder Mutation von Seemanová, Eva, Jarolim, Petr, Seeman, Pavel, Varon, Raymonda, Digweed, Martin, Swift, Michael, Sperling, Karl

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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome von Klopocki, Eva, Schulze, Harald, Strauß, Gabriele, Ott, Claus-Eric, Hall, Judith, Trotier, Fabienne, Fleischhauer, Silke, Greenhalgh, Lynn, Newbury-Ecob, Ruth A., Neumann, Luitgard M., Habenicht, Rolf, König, Rainer, Seemanova, Eva, Megarbane, André, Ropers, Hans-Hilger, Ullmann, Reinhard, Horn, Denise, Mundlos, Stefan

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Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies von Kortüm, F., Chyrek, M., Fuchs, S., Albrecht, B., Gillessen-Kaesbach, G., Mütze, U., Seemanova, E., Tinschert, S., Wieczorek, D., Rosenberger, G., Kutsche, K.

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DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS von BARTSCH, Oliver, SCHMIDT, Stefanie, RICHTER, Marion, MORLOT, Susanne, SEEMANOVA, Eva, WIEBE, Glenis, RASI, Sasan

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An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromoso... von SEEMANOVA, E

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The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case von Bartsch, O., Kreß, W., Wagner, A., Seemanova, E.

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Fragile X syndrome in incestuous families von Seemanová, E

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