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1

Molecular analysis of chromosome 21 in a patient with a phenotype of down syndrome and apparently normal karyotype

Ahlbom, Bodil Edman, Goetz, Peter, Korenberg, Julie R., Pettersson, Ulf, Seemanova, Eva, Wadelius, Claes, Zech, Lore, Annerén, Göran

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 669 KB

1996

2

Autosomal dominant insulin resistance syndrome due to a postbinding defect

MUDr. E. Seemanová, H. W. Rüdiger, M. Dreyer

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 792 KB

english, 1992

3

A mutation in the c-Fos gene associated with congenital generalized lipodystrophy

Knebel, Birgit, Kotzka, Jorg, Lehr, Stefan, Hartwig, Sonja, Avci, Haluk, Jacob, Sylvia, Nitzgen, Ulrike, Schiller, Martina, März, Winfried, Hoffmann, Michael M, Seemanova, Eva, Haas, Jutta, Muller-Wie

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 914 KB

english, 2013

4

Fragile Xsyndrome in incestuous families

Seemanová, Eva

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 91 KB

english, 1996

5

X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity: Possible new syndrome

Seemanová, Eva, Lesný, Ivan

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 415 KB

english, 1996

6

The Neu-Laxova syndrome

Eva Seemanová, Rudolf Rudolf, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 181 KB

english, 1985

7

Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: A new autosomal recessive disorder

Eva Seemanová, Dr. E. Passarge, Dagmar Beneškova, J. Houštěk, P. Kasal, Melanie Ševčìková, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 584 KB

english, 1985

8

Further delineation of the Nijmegen breakage syndrome

Rob D. F. M. Taalman, Theo W. J. Hustinx, Dr. Corry M. R. Weemaes, Eva Seemanová, Angela Schmidt, Eberhard Passarge, Jacques M. J. C. Scheres

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 687 KB

english, 1989

9

Carrier detection of the fragile X syndrome using flanking loci DXS98, DXS105, and DXS304

Niklas Dahl, Helena Malmgren, Ulf Pettersson, Gösta Holmgren, Eva Seemanová, Karl-Henrik Gustavson

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 275 KB

english, 1991

10

Methylation and mutation patterns in the fragile X syndrome

Helena Malmgren, Marie-Louise Steén-Bondeson, Karl-Henrik Gustavson, Eva Seémanova, Gösta Holmgren, Isabelle Oberlé, Jean-Louis Mandel, Ulf Pettersson, Niklas Dahl

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 749 KB

english, 1992

11

Morfan: A new syndrome characterized by mental retardation, pre- and postnatal overgrowth, remarkable face and acanthosis nigricans in 5-year-old boy

Dr. E. Seemanová, H. W. Rüdiger, M. Dreyer

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 1.03 MB

english, 1993

12

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes

Wiktor Borozdin, Ana M. Bravo-Ferrer Acosta, Eva Seemanova, Michael Leipoldt, Michael J. Bamshad, Sheila Unger, Jürgen Kohlhase

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 245 KB

english, 2006

13

Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay

Susann Bürger, Detlev Schindler, Martin Fehn, Bettina Mühl, Hartmut Mahrhofer, Michael Flentje, Holger Hoehn, Eva Seemanová, Cholpon S. Djuzenova

Journal:

Environmental and Molecular Mutagenesis

Year:

2006

Language:

english

File:

PDF, 355 KB

english, 2006

14

First-trimester prenatal diagnosis of the nijmegen breakage syndrome and ataxia telangiectasia using an assay of radioresistant dna synthesis

Nicolaas G. J. Jaspers, Magna van der Kraan, Peter C. M. L. Linssen, Milan Maçek, Eva Seemanová, Wim J. Kleijer

Journal:

Prenatal Diagnosis

Year:

1990

Language:

english

File:

PDF, 483 KB

english, 1990

15

Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?

K. R. Held, S. Kerber, E. Kaminsky, S. Singh, P. Goetz, E. Seemanova, H. W. Goedde

Journal:

Year:

1992

Language:

english

File:

PDF, 556 KB

english, 1992

16

Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X-chromosomal DNA markers

E. Wilichowski, M. Krawczak, E. Seemanova, F. Hanefeld, J. Schmidtke

Journal:

Year:

1987

Language:

english

File:

PDF, 650 KB

english, 1987

17

The delivery of genetic counseling services in Europe

E. Passarge, F. Vogel, K. Berg, N. P. Bochkov, A. Czeizel, I. Emerit, M. Fraccaro, P. S. Harper, L. P. Kate, J. G. Leroy, M. Mikkelsen, R. Norio, W. Rosenkranz, W. Schmid, E. Seemanová, R. Witkowski

Journal:

Year:

1980

Language:

english

File:

PDF, 496 KB

english, 1980

18

X-Chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of “Paine syndrome”?

E. Seemanová, I. Lesný, J. Hyánek, K. Brachfeld, M. Rössler, M. Prošková

Journal:

Year:

1973

Language:

english

File:

PDF, 454 KB

english, 1973

19

Fetal face syndrome with mental retardation

E. Seemanová, J. E. Jirásek, M. Ševčíková, J. Jodl, J. Kreisinger

Journal:

Year:

1974

Language:

english

File:

PDF, 196 KB

english, 1974

20

Prenatal detection of a fetus hemizygous for the fragile X-chromosome

Angela Schmidt, E. Passarge, Eva Seemanová, M. Macek

Journal:

Year:

1982

Language:

english

File:

PDF, 211 KB

english, 1982

21

An in-frame insertion in exon 3 and a nonsense mutation in exon 2 of the insulin receptor gene associated with severe insulin resistance in a patient with Rabson-Mendenhall syndrome

D. Müller-Wieland, E. R. van der Vorm, R. Streicher, W. Krone, E. Seemanova, M. Dreyer, H. W. Rüdiger, S. R. Rosipal, J. A. Maassen

Journal:

Year:

1993

Language:

english

File:

PDF, 932 KB

english, 1993

22

β-Mannosidase deficiency: Heterogeneous manifestation in the first female patient and her brother

W. J. Kleijer, P. Hu, R. Thoomes, M. Boer, J. G. M. Huijmans, W. Blom, O. P. Van Diggelen, E. Seemanova, M. Macek

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 696 KB

english, 1990

23

Results of screening for phenylalanine and other amino acid disturbances among pregnant women

J. Hyánek, J. Homolka, J. Trnka, E. Seemanová, J. Červenka, Z. Třesohlavá, J. Kapras, A. Doležal, J. Šráček, V. Vácha, J. Hoza, F. Lošan, S. Nevšímalová, M. Malá, H. Viletová

Journal:

Journal of Inherited Metabolic Disease

Year:

1979

Language:

english

File:

PDF, 590 KB

english, 1979

24

Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes

H. Seyschab, D. Schindler, R. Friedl, G. Barbi, E. Boltshauser, J. P. Fryns, F. Hanefeld, R. Korinthenberg, I. Krägeloh-Mann, J. M. J. C. Scheres, A. Schinzel, E. Seemanova, N. Tommerup, H. Hoehn

Journal:

European Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 578 KB

english, 1992

25

DNA sequencing ofCREBBPdemonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS

Oliver Bartsch, Stefanie Schmidt, Marion Richter, Susanne Morlot, Eva Seemanová, Glenis Wiebe, Sasan Rasi

Journal:

Year:

2005

Language:

english

File:

PDF, 386 KB

english, 2005

26

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome

Oliver Bartsch, Sasan Rasi, Alicia Delicado, Sarah Dyack, Luitgard M. Neumann, Eva Seemanová, Marianne Volleth, Thomas Haaf, Vera M. Kalscheuer

Journal:

Year:

2006

Language:

english

File:

PDF, 371 KB

english, 2006

27

Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings

Tomáš Seeman, Marcela Malíková, Květa Bláhová, Eva Seemanová

Journal:

Pediatric Nephrology

Year:

2009

Language:

english

File:

PDF, 132 KB

english, 2009

28

Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused byMKS3/TMEM67mutations

Tomáš Seeman, Eva Seemanová, Gudrun Nuernberg, Peter Nuernberg, Sabine Janssen, Edgar A. Otto

Journal:

Pediatric Nephrology

Year:

2010

Language:

english

File:

PDF, 153 KB

english, 2010

29

Characterisation of ATM Mutations in Slavic Ataxia Telangiectasia Patients

Jana Soukupova, Petr Pohlreich, Eva Seemanova

Journal:

NeuroMolecular Medicine

Year:

2011

Language:

english

File:

PDF, 209 KB

english, 2011

30

Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness

P Seeman, M Malíková, D Rašková, O Bendová, D Groh, M Kubálková, I Sakmaryová, E Seemanová, Z Kabelka

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 87 KB

english, 2004

31

Hypocretin deficiency in Prader–Willi syndrome

S. Nevsimalova, J. Vankova, I. Stepanova, E. Seemanova, E. Mignot, S. Nishino

Journal:

European Journal of Neurology

Year:

2005

Language:

english

File:

PDF, 71 KB

english, 2005

32

10.1038/77053

Avela, Kristiina, Lipsanen-Nyman, Marita, Idänheimo, Niina, Seemanová, Eva, Rosengren, Sally, Mäkelä, Tomi P., Perheentupa, Jaakko, Chapelle, Albert de la, Lehesjoki, Anna-Elina

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 634 KB

english, 2000

33

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

Journal:

British Journal of Cancer

Year:

1998

Language:

english

File:

PDF, 1.67 MB

english, 1998

34

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

Harmsen, May-Britt, Azzarello-Burri, Silvia, García González, M Mar, Gillessen-Kaesbach, Gabriele, Meinecke, Peter, Müller, Dietmar, Rauch, Anita, Rossier, Eva, Seemanova, Eva, Spaich, Christiane

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 413 KB

english, 2009

35

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

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 213 KB

english, 1999

36

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

Varon, Raymonda, Seemanova, Eva, Chrzanowska, Krystyna, Hnateyko, Oleg, Piekutowska-Abramczuk, Dorota, Krajewska-Walasek, Malgorzata, Sykut-Cegielska, Jolanta, Sperling, Karl, Reis, André

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

37

Childhood overgrowth in patients with common NF1 microdeletions

Spiegel, Miriam, Oexle, Konrad, Horn, Denise, Windt, Elke, Buske, Annegret, Albrecht, Beate, Prott, Eva-Christina, Seemanová, Eva, Seidel, Joerg, Rosenbaum, Thorsten

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 297 KB

english, 2005

38

Recombinant DNA studies of X-linked muscular dystrophies

E. Wilichowski, M. Krawczak, E. Seemanova, F. Hanefeld, J. Schmidtke

Journal:

Analytical and Bioanalytical Chemistry

Year:

1986

Language:

english

File:

PDF, 98 KB

english, 1986

39

An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability

Journal:

Mutation Research/Reviews in Genetic Toxicology

Year:

1990

Language:

english

File:

PDF, 289 KB

english, 1990

40

Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients

Nadja Thierfelder, Ilja Demuth, Nadine Burghardt, Karin Schmelz, Karl Sperling, Krystyna H. Chrzanowska, Eva Seemanova, Martin Digweed

Journal:

European Journal of Cell Biology

Year:

2008

Language:

english

File:

PDF, 375 KB

english, 2008

41

Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit

Velvizhi Ranganathan, Walter F. Heine, David N. Ciccone, Karl L. Rudolph, Xiaohua Wu, Sandy Chang, Hua Hai, Ian M. Ahearn, David M. Livingston, Igor Resnick, Fred Rosen, Eva Seemanova, Petr Jarolim, R

Journal:

Current Biology

Year:

2001

Language:

english

File:

PDF, 221 KB

english, 2001

42

Defects of Insulin and IGF-1 Action at Receptor and Postreceptor Level in a Patient with Type A Syndrome of Insulin Resistance

B. Knebel, S. Kellner, J. Kotzka, G. Siemeister, M. Dreyer, R. Streicher, M. Schiller, H.W. Rüdiger, E. Seemanova, W. Krone, D. Müller-Wieland

Journal:

Biochemical and Biophysical Research Communications

Year:

1997

Language:

english

File:

PDF, 184 KB

english, 1997

43

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence

Monika Koudova, Eva Seemanova, Martin Zenker

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 376 KB

english, 2009

44

Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome

Stephan Lins, Ryong Kim, Lars Krüger, Krystyna H. Chrzanowska, Eva Seemanova, Martin Digweed

Journal:

Year:

2009

Language:

english

File:

PDF, 669 KB

english, 2009

45

Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly

Pavel Seeman, Kateřina Gebertová, Kateřina Paděrová, Karl Sperling, Eva Seemanová

Journal:

Pediatric Neurology

Year:

2004

Language:

english

File:

PDF, 250 KB

english, 2004

46

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Raymonda Varon, Christine Vissinga, Matthias Platzer, Karen M Cerosaletti, Krystyna H Chrzanowska, Kathrin Saar, Georg Beckmann, Eva Seemanová, Paul R Cooper, Norma J Nowak, Markus Stumm, Corry M.R We

Journal:

Year:

1998

Language:

english

File:

PDF, 2.04 MB

english, 1998

47

Ultraviolet-induced chromosomal instability in cultured fibroblasts of heterozygote carriers for xeroderma pigmentosum

Volker Bielfeld, Michael Weichenthal, Marianne Roser, Eckard Breitbart, Jürgen Berger, Eva Seemanova, Hugo W. Rüdiger

Journal:

Cancer Genetics and Cytogenetics

Year:

1989

Language:

english

File:

PDF, 333 KB

english, 1989

48

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.

Journal:

Year:

2008

Language:

english

File:

PDF, 798 KB

english, 2008

49

Reproductive patterns of patients treated for malignancies

Seemanova, E., Macek, M., Zwinger, A., Subrt, J.

Journal:

Reproductive Toxicology

Year:

1992

Language:

english

File:

PDF, 123 KB

english, 1992

50

Exomsequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome

Kortüm, F., Abdollahpour, H., Alawi, M., Korenke, G.C., Seemanova, E., Tinschert, S., Zenker, M., Rosenberger, G., Kutsche, K.

Journal:

medizinische genetik

Year:

2014

Language:

german

File:

PDF, 947 KB

german, 2014

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