1998
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Publikationen
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Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome Journal of Medical Genetics, 35, 890–894. https://doi.org/10.1136/jmg.35.11.890
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Germline mosaicism in Coffin-Lowry syndrome European Journal of Human Genetics, 6, 578–582. https://doi.org/10.1038/sj.ejhg.5200230
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Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11 American Journal of Medical Genetics, 79, 347–353. https://doi.org/10.1002/(SICI)1096-8628(19981012)79:5<347::AID-AJMG4>3.0.CO;2-G
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Nonsyndromal overgrowth in males with mild psychomotor delay. American Journal of Medical Genetics. Part A, 79, 291–293. https://doi.org/10.1002/(SICI)1096-8628(19981002)79:4<291::AID-AJMG11>3.0.CO;2-M
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A Chromosomal Deletion Map of Human Malformations American Journal of Human Genetics, 63, 1153–1159. https://doi.org/10.1086/302041
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Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination Human Molecular Genetics, 7, 1011–1019. https://doi.org/10.1093/hmg/7.6.1011
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A 5-year-old girl with interstitial deletion of 3p14: Clinical, psychologic, cytogenetic, and molecular studies American Journal of Medical Genetics, 77, 302–305. https://doi.org/10.1002/(SICI)1096-8628(19980526)77:4<302::AID-AJMG10>3.0.CO;2-M
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X-chromosomal bulbospinal muscular atrophy (Kennedy syndrome) Schweizerische Medizinische Wochenschrift, 128, 817–823.
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High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions Human Molecular Genetics, 7, 887–894. https://doi.org/10.1093/hmg/7.5.887
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Histopathologic and ultrastructural study of lupus-like skin lesions in a patient with Bloom syndrome Journal of Cutaneous Pathology, 25, 275–279. https://doi.org/10.1111/j.1600-0560.1998.tb01733.x
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Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency Clinical Genetics, 53, 308–312. https://doi.org/10.1111/j.1399-0004.1998.tb02702.x
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Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation European Journal of Human Genetics, 6, 140–144. https://doi.org/10.1038/sj.ejhg.5200168
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The mechanisms involved in formation of deletions and duplications of 15q11-q13 Journal of Medical Genetics, 35, 130–136. https://doi.org/10.1136/jmg.35.2.130
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Neuentdeckte strukturelle Chromosomenabberationen bei altbekannten Syndromen, Assoziationen und Sequenzen In P. Frick, G. A. Von Harnack, K. Kochsiek, G. A. Martini, & A. Prader (Eds.), Ergebnisse der Inneren Medizin und Kinderheilkunde = Advances in internal medicine and pediatrics (pp. 57–75). Springer. https://doi.org/10.1007/978-3-642-73558-5_3
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Evidence against a major role of PEG1/MEST in Silver-Russell syndrome European Journal of Human Genetics, 6, 114–120. https://doi.org/10.1038/sj.ejhg.5200164
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22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin Clinical Genetics, 53, 63–69. https://doi.org/10.1111/j.1399-0004.1998.tb02584.x
Textdatei
Originale Publikationen (Stand 31.12.1998)
Fokstuen S, Arbenz U, Artan S, Dutly F, Bauersfeld U, Brecevic L, Fasnacht M, Röthlisberger B, Schinzel A. 22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin. Clin Genet 1998;53:63-69
Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Penaherrera M, Michaelis RC, Abeliovich D, Schinzel AA. The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet 1998; 35: 130-136
Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A. Isochromosomes 12q und 9p: parental origin and possible mechanisms of formation. Eur J Hum Genet 1998: 6, 140-144
Riesewijk AM, Blagitko N, Schinzel AA, Hu L, Schulz U, Hamel BCJ, Ropers HH, Kalscheuer VM. Evidence against a major role of PEG1/MEST in Silver-Russell syndrome. Eur J hum Genet (1998) 6, 114-120
Moser C, Hany A, Spiegel R. Familiäre Riesenhämangiome der Leber. Praxis 1998; 87:461-468
Baumer A, Dutly F, Balmer D, Riegel M, Tükel T, Krajewska-Walasek M, Schinzel AA. High level of unequal meiotic crossovers at the origin of the 22q11 and 7q11.23 deletions. Hum Mol Genet, 1998; 7: 887-894
Schinzel A, Gundelfinger R, Dutly F, Baumer A, Binkert F. A 5-year old girl with interstitial deletion of 3p14: clinical, psychologic, cytogenetic, and molecular studies. Am J Med Genet 1998;77:302-305
Chrzanowska KH, Krajewska-Walasek MK, Kus J, Michalkiewicz J, Maziarka D, Wolski JK, Brecewic L, Madalinski K. Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency. Clin Genet 1998: 53: 308-312
Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze W, Brondum-Nielsen K, Schuffenhauer S, Michaelis RC, Langlois S, Hassold TJ. Maternal meiosis I non-disjunciotn of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet, 1998;7: 1011-1019
Berkhoff M, Sturzenegger M, Spiegel R, Rösler KM, Hess CW. X-chromosomale bulbospinale Muskelatrophie (Kennedy-Syndrom). Schweiz Med Wochenschr 1998; 128; 817-23
Grob M, Wyss M, Spycher MA, Domman S, Schinzel A, Burg G, Trüeb RM. Histopathologic and ultrastructural study of lupus-like skin lesions in a pation with Bloom syndrome. J Cutan Pathol 1998; 25; 275-279
Dutly F, Baumer A, Kayserili H, Yüksel-Apak M, Zerova T, Hebisch G, Schinzel A. Seven cases of Wiedemann-Beckwith syndrom, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. Am J Med Genet 1998;79: 347-353
Merienne K, Jacquot S, Trivier e, Rossi A, Scott C, Schinzel A, Castellan C, Kress W, Hanauer A. Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. J Med Genet 1998; 335: 890-894
Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D. A chromosomal deletion map of human malformations. Am J Hum Genet 1998; 63: 1153-1159
Jacquot S, Merienne K, Pannetier S, Blumenfeld S, Schinzel A, Hanauer A. Germline mosaicims in Coffin-Lowry syndrome. Eur J Hum Genet 1998;6: 578-582