2004
ZORA-Hinweis zur Angaben der Autoren
- In der exportierbaren Liste werden Publikationen mit weniger als 30 Autoren 1:1 in ZORA übernommen. Es werden keine Autorennamen gelöscht. --> Grund: vollständige Metadaten pro Publikation, auch zur weiteren Verwendung (z.B. in der Swisscovery).
- Bei Publikationen mit mehr (>30) Autoren werden die Autoren beim Import automatisch auf die Zahl 30 gekürzt. Im selben Schritt wird ein "et al." erstellt. Wenn dadurch UZH-Autoren ausgelassen werden, wurden sie am Ende, nach "et al.", hinzugefügt.
- Mehr Information: Varia | Universitätsbibliothek Zürich | UZH
- Für die vollständige Auflistung der Autoren in der Reihenfolge ihrer Veröffentlichung verwenden Sie bitte die Textdatei am Ende dieser Seite.
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ZORA Publikationsliste
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Publikationen
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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.
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Computer-aided anthropometry in the evaluation of dysmorphic children. Pediatrics, 114(3):e333-e336.
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vhnf1 integrates global RA patterning and local FGF signals to direct posterior hindbrain development in zebrafish. Development, 131(18):4511-4520.
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Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. American Journal of Human Genetics, 75(1):138-145.
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Natural history of twin disruption sequence. American Journal of Medical Genetics. Part A, 127A(2):133-138.
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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.
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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.
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Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing. Human Mutation, 23(5):526.
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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.
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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.
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Genotype-phenotype correlations in Noonan syndrome. Journal of Pediatrics, 144(3):368-74.
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Search for somatic 22q11.2 deletions in patients with conotruncal heart defects. American Journal of Medical Genetics. Part A, 124A(2):165-169.
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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.
Textdatei
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