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Fingerprint Dive into the research topics where Maria Teresa Divizia is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 16 Similar Profiles
Poland Syndrome Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Mutation Medicine & Life Sciences
De Lange Syndrome Medicine & Life Sciences
Epigenomics Medicine & Life Sciences
Mosaicism Medicine & Life Sciences
Aniridia Medicine & Life Sciences

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Research Output 2003 2019

Gene Duplication
Nonsense Codon
Intellectual Disability
Haploinsufficiency
Voltage-Gated Potassium Channels

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Magini, P., Smits, D. J., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., van der Ent, M., Palombo, F., Lequin, M. H., Dremmen, M., de Wit, M. C. Y., Severino, M., Divizia, M. T., Striano, P., Ordonez-Herrera, N., Alhashem, A., Al Fares, A., Al Ghamdi, M., Rolfs, A., Bauer, P. & 32 others, Demmers, J., Verheijen, F. W., Wilke, M., van Slegtenhorst, M., van der Spek, P. J., Seri, M., Jansen, A. C., Stottmann, R. W., Hufnagel, R. B., Hopkin, R. J., Aljeaid, D., Wiszniewski, W., Gawlinski, P., Laure-Kamionowska, M., Alkuraya, F. S., Akleh, H., Stanley, V., Musaev, D., Gleeson, J. G., Zaki, M. S., Brunetti-Pierri, N., Cappuccio, G., Davidov, B., Basel-Salmon, L., Bazak, L., Shahar, N. R., Avella, A. B., Mirzaa, G. M., Dobyns, W. B., Pippucci, T., Fornerod, M. & Mancini, G. M. S., Oct 3 2019, In : American Journal of Human Genetics. 105, 4, p. 689-705 17 p.

Research output: Contribution to journalArticle

Arthrogryposis
Sphingomyelin Phosphodiesterase
Microcephaly
Nuclear Envelope
Nuclear Pore Complex Proteins

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Magini, P., Smits, D. J., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., van der Ent, M., Palombo, F., Lequin, M. H., Dremmen, M., de Wit, M. C. Y., Severino, M., Divizia, M. T., Striano, P., Ordonez-Herrera, N., Alhashem, A., Al Fares, A., Al Ghamdi, M., Rolfs, A., Bauer, P. & 32 others, Demmers, J., Verheijen, F. W., Wilke, M., van Slegtenhorst, M., van der Spek, P. J., Seri, M., Jansen, A. C., Stottmann, R. W., Hufnagel, R. B., Hopkin, R. J., Aljeaid, D., Wiszniewski, W., Gawlinski, P., Laure-Kamionowska, M., Alkuraya, F. S., Akleh, H., Stanley, V., Musaev, D., Gleeson, J. G., Zaki, M. S., Brunetti-Pierri, N., Cappuccio, G., Davidov, B., Basel-Salmon, L., Bazak, L., Shahar, N. R., Bertoli-Avella, A., Mirzaa, G. M., Dobyns, W. B., Pippucci, T., Fornerod, M. & Mancini, G. M. S., 2019, In : American Journal of Human Genetics. 105, 4, p. 689-705 17 p.

Research output: Contribution to journalArticle

P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development

Monti, P., Ciribilli, Y., Foggetti, G., Menichini, P., Bisio, A., Cappato, S., Inga, A., Divizia, M. T., Lerone, M., Bocciardi, R. & Fronza, G., Dec 13 2019, In : Bioscience Reports. 39, 12, BSR20192114.

Research output: Contribution to journalArticle

Open Access
Protein Isoforms
Extremities
Genes
Gene Expression
Tumors

P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development

Monti, P., Ciribilli, Y., Foggetti, G., Menichini, P., Bisio, A., Cappato, S., Inga, A., Divizia, M. T., Lerone, M., Bocciardi, R. & Fronza, G., 2019, In : Bioscience Reports. 39, 12

Research output: Contribution to journalArticle