Schinzel, Albert

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., Malcolm, S., et al. (1994) · Nature Genetics

Craniofacial Disorders and TreatmentsConnective tissue disorders research

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Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

Bamshad, M., Lin, R. C., Law, D. J., Watkins, W. S., Krakowiak, P. A., Moore, M. E., Franceschini, P., Lala, R., Holmes, L. B., Gebuhr, T. C., et al. (1997) · Nature Genetics

Congenital limb and hand anomaliesDevelopmental Biology and Gene Regulation

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Genotype-phenotype correlations in down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Lyle, R., Béna, F., Gagos, S., Gehrig, C., Lopez, G., Schinzel, A., Lespinasse, J., Bottani, A., Dahoun, S., Taine, L., et al. (2009) · European Journal of Human Genetics

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

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The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome

Bamshad, M., Le, T., Watkins, W. S., Dixon, M. E., Kramer, B. E., Roeder, A. D., Carey, J. C., Root, S., Schinzel, A., Van Maldergem, L., et al. (1999) · The American Journal of Human Genetics

Congenital limb and hand anomaliesdental development and anomalies

Cited by 175

Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

Kohlhase, J., Taschner, P. E. M., Burfeind, P., Pasche, B., Newman, B., Blanck, C., Breuning, M. H., ten Kate, L. P., Maaswinkel-Mooy, P., Mitulla, B., et al. (1999) · The American Journal of Human Genetics

Genomics and Rare DiseasesCongenital limb and hand anomalies

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