Hypocretin deficiency in Prader-Willi syndrome
Nevsimalova, S., Vankova, J., Stepanova, I., Seemanova, E., Mignot, E., Nishino, S.
Published in European journal of neurology (01.01.2005)
Published in European journal of neurology (01.01.2005)
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Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
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
Published in Clinical genetics (01.01.2008)
Published in Clinical genetics (01.01.2008)
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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type
Van Maldergem, L, Yuksel-Apak, M, Kayserili, H, Seemanova, E, Giurgea, S, Basel-Vanagaite, L, Leao-Teles, E, Vigneron, J, Foulon, M, Greally, M, Jaeken, J, Mundlos, S, Dobyns, W B
Published in Neurology (11.11.2008)
Published in Neurology (11.11.2008)
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Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations
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
Published in Journal of medical genetics (01.04.2008)
Published in Journal of medical genetics (01.04.2008)
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Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies
Kortüm, F., Chyrek, M., Fuchs, S., Albrecht, B., Gillessen-Kaesbach, G., Mütze, U., Seemanova, E., Tinschert, S., Wieczorek, D., Rosenberger, G., Kutsche, K.
Published in Molecular syndromology (01.12.2011)
Published in Molecular syndromology (01.12.2011)
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Two Li-Fraumeni syndrome families with novel germline p53 mutations : loss of the wild-type p53 allele in only 50% of tumours
SEDLACEK, Z, KODET, R, KRIZ, V, SEEMANOVA, E, VODVARKA, P, WILGENBUS, P, MARES, J, POUSTKA, A, GOETZ, P
Published in British journal of cancer (01.04.1998)
Published in British journal of cancer (01.04.1998)
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Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?
Held, K R, Kerber, S, Kaminsky, E, Singh, S, Goetz, P, Seemanova, E, Goedde, H W
Published in Human genetics (01.01.1992)
Published in Human genetics (01.01.1992)
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PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse
Tassabehji, M, Newton, V E, Leverton, K, Turnbull, K, Seemanova, E, Kunze, J, Sperling, K, Strachan, T, Read, A P
Published in Human molecular genetics (01.07.1994)
Published in Human molecular genetics (01.07.1994)
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Allelic heterogeneity of alkaptonuria in Central Europe
Müller, C R, Fregin, A, Srsen, S, Srsnova, K, Halliger-Keller, B, Felbor, U, Seemanova, E, Kress, W
Published in European journal of human genetics : EJHG (01.09.1999)
Published in European journal of human genetics : EJHG (01.09.1999)
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Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability
Seemanová, E, Sperling, K, Neitzel, H, Varon, R, Hadac, J, Butova, O, Schröck, E, Seeman, P, Digweed, M
Published in Journal of medical genetics (01.03.2006)
Published in Journal of medical genetics (01.03.2006)
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The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1
Stumm, M, Gatti, R A, Reis, A, Udar, N, Chrzanowska, K, Seemanova, E, Sperling, K, Wegner, R D
Published in American journal of human genetics (01.10.1995)
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Published in American journal of human genetics (01.10.1995)
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Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness
Seeman, P, Malíková, M, Rašková, D, Bendová, O, Groh, D, Kubálková, M, Sakmaryová, I, Seemanová, E, Kabelka, Z
Published in Clinical genetics (01.08.2004)
Published in Clinical genetics (01.08.2004)
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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome
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
Published in American journal of human genetics (01.02.2007)
Published in American journal of human genetics (01.02.2007)
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Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism
Avela, Kristiina, Lipsanen-Nyman, Marita, Idänheimo, Niina, Seemanová, Eva, Rosengren, Sally, Mäkelä, Tomi P, Perheentupa, Jaakko, Chapelle, Albert de la, Lehesjoki, Anna-Elina
Published in Nature genetics (01.07.2000)
Published in Nature genetics (01.07.2000)
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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
Bartsch, O, Locher, K, Meinecke, P, Kress, W, Seemanová, E, Wagner, A, Ostermann, K, Rödel, G
Published in Journal of medical genetics (01.07.2002)
Published in Journal of medical genetics (01.07.2002)
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Cancer Risk of Heterozygotes With the NBN Founder Mutation
Seemanová, Eva, Jarolim, Petr, Seeman, Pavel, Varon, Raymonda, Digweed, Martin, Swift, Michael, Sperling, Karl
Published in JNCI : Journal of the National Cancer Institute (19.12.2007)
Published in JNCI : Journal of the National Cancer Institute (19.12.2007)
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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
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
Published in Cilia (London) (13.07.2015)
Published in Cilia (London) (13.07.2015)
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Defects of Insulin and IGF-1 Action at Receptor and Postreceptor Level in a Patient with Type A Syndrome of Insulin Resistance
Knebel, B., Kellner, S., Kotzka, J., Siemeister, G., Dreyer, M., Streicher, R., Schiller, M., Rüdiger, H.W., Seemanova, E., Krone, W., Müller-Wieland, D.
Published in Biochemical and biophysical research communications (29.05.1997)
Published in Biochemical and biophysical research communications (29.05.1997)
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