2004

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In the exportable list, publications with less than 30 authors are transferred 1:1 to ZORA. No author names are deleted. --> Reason: complete metadata per publication, also for further use (e.g. in Swisscovery).
For publications with more (>30) authors, the authors are automatically truncated to the number 30 during import. In the same step, an "et al" is created. If this leaves out UZH authors, they were added at the end, after "et al".
More information: Varia | University Library Zurich | UZH
For the complete listing of authors in order of publication, please use the authors list at the original publication. Or alternatively use the text file at the bottom of this page.

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Publications

Wey, Eva; Bartholdi, Deborah; Riegel, Mariluce; Nazlican, Hülya; Horsthemke, Bernhard; Schinzel, Albert; Baumer Wolz, Alessandra (2004). Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. European Journal of Human Genetics, 13(3):273-277.
Zankl, Andreas (2004). Computer-aided anthropometry in the evaluation of dysmorphic children. Pediatrics, 114(3):e333-e336.
Hernandez, Rafael E; Rikhof, Holly A; Bachmann-Gagescu, Ruxandra; Moens, Cecilia B (2004). vhnf1 integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish. Development, 131(18):4511-4520.
Hennies, Hans Christian; Rauch, Anita; Seifert, Wenke; Schumi, Christian; Moser, Elisabeth; Al-Taji, Eva; Tariverdian, Gholamali; Chrzanowska, Krystyna h; Krajewska-Walasek, Malgorzata; Rajab, Anna; Giugliani, Roberto; Neumann, Thomas e; Eckl, Katja m; Karbasiyan, Mohsen; Reis, André; Horn, Denise (2004). Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. American Journal of Human Genetics, 75(1):138-145.
Zankl, Andreas; Brooks, Daniela; Boltshauser, Eugen; Largo, Remo; Schinzel, Albert (2004). Natural history of twin disruption sequence. American Journal of Medical Genetics. Part A, 127A(2):133-138.
Baumer Wolz, Alessandra; Riegel, Mariluce; Schinzel, Albert (2004). Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion. Journal of Medical Genetics, 41(6):413-420.
Zankl, Andreas; Scheffer, H; Schinzel, Albert (2004). Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity?. American Journal of Medical Genetics. Part A, 127A(1):74-80.
Hübner, Christian A; Utermann, Barbara; Tinschert, Sigrid; Krüger, Gabriele; Ressler, Bernadette; Steglich, Cordula; Schinzel, Albert; Galli, Andreas (2004). Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. Human Mutation, 23(5):526.
Zenker, Martin; Rauch, Anita; Winterpacht, Andreas; Tagariello, Andreas; Kraus, Cornelia; Rupprecht, Thomas; Sticht, Heinrich; Reis, André (2004). A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. American Journal of Human Genetics, 74(4):731-737.
Nazarenko, Sergey; Sazhenova, Elena; Baumer Wolz, Alessandra; Schinzel, Albert (2004). Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome. European Journal of Human Genetics, 12(5):411-414.
Zenker, Martin; Buheitel, Gernot; Rauch, Ralf; Koenig, Rainer; Bosse, Kirstin; Kress, Wolfram; Tietze, Hans-Ulrich; Doerr, Helmuth-Guenther; Hofbeck, Michael; Singer, Helmut; Reis, André; Rauch, Anita (2004). Genotype-phenotype correlations in Noonan syndrome. Journal of Pediatrics, 144(3):368-74.
Bähring, Sylvia; Rauch, Anita; Toka, Okan; Schroeder, Christoph; Hesse, Christiane; Siedler, Heike; Fesüs, Gabor; Haefeli, Walter e; Busjahn, Andreas; Aydin, Atakan; Neuenfeld, Yvette; Mühl, Astrid; Toka, Hakan R; Gollasch, Maik; Jordan, Jens; Luft, Friedrich C (2004). Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12. Hypertension, 43(2):471-476.
Rauch, Anita; Hofbeck, Michael; Cesnjevar, Robert; Koch, Andreas; Rauch, Ralf; Buheitel, Gernot; Singer, Helmut; Weyand, Michael (2004). Search for somatic 22q11.2 deletions in patients with conotruncal heart defects. American Journal of Medical Genetics. Part A, 124A(2):165-169.
Horn, Denise; Weschke, Bernhard; Zweier, Christiane; Rauch, Anita (2004). Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. American Journal of Medical Genetics. Part A, 124A(1):102-104.
Khan, Nadia; Schinzel, Albert; Shuknecht, Bernhard; Baumann, Fabian; Østergaard, John R; Yonekawa, Yasuhiro (2004). Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome?. European Neurology, 51(2):72-77.

Textfile

Khan N, Schinzel A, Shuknecht B, Baumann F, Østergaard JR, Yonekawa Y Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? Eur Neurol 2004;51:72-77

Zankl A, Scheffer H, Schinzel A Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: Odontotrichomelic syndrome or new entity? Am J Med Genet 2004;127A:74-80

Nazarenko S, Sazhenova E, Baumer A, Schinzel A Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome Eur J Hum Genet 2004;12:411-414

Zankl A, Brooks D, Boltshauser E, Largo R, Schinzel A Natural history of twin disruption sequence Am J Med Genet 2004;127A:133-138

Baumer A, Riegel M, Schinzel A Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion J Med Genet 2004;41:413-420

Hübner CA, Utermann B, Tinschert S, Krüger G, Ressler B, Steglich C, Schinzel A, Gal A Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing Hum Mutat 2004; 23:526-531

Melo DG, Huber J, Giuliani LR, Mazzucatto LF, Riegel M, Pina-Neto JM De novo complex chromosome rearrangement: A study of two patients Genet Couns 2004:15:303-310

Czakó M, Riegel M, Morava E, Bajnóczky K, Kosztolányi G Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q Am J Med Genet 2004; 131A:310-312

Zerova-Ljubimova TE, Riegel M, Smulskaja NA, Eveenkova EG, Gorovenko NG, Schinzel A Molecular-cytogenetic identification of partial duplication of short arm of chromosome 8 Cytology and Genetics (Ukraine) 2004;4:55-61

Zankl A Computer-aided anthropometry in the evaluation of dysmorphic children Pediatrics 2004;114:333-336

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