Marcella Zollino

Faculty Profile Webpagehttp://docenti.unicatt.it/ppd2/linkPpdDocente?cod_docente=46422

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Academic discipline

MEDICAL GENETICS

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150 Article

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Zollino, M., Marangi, G., Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y. & 84 others, Jain, M., Blesson, A., Rodan, L. H., Abbott, M-A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Morleo, M., Nigro, V., Torella, A., Pinelli, M., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., Mcwalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., Van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., Maclennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S. & Kruer, M. C., 2021, In: American Journal of Human Genetics. 108, p. 2006-2016 11 p.
Research output: Contribution to journal › Article
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype
Zollino, M., Marangi, G., Currò, A., Doddato, G., Bruttini, M., Zappella, M., Renieri, A. & Pinto, A. M., 2021, In: European Journal of Medical Genetics. 64, p. 104102-N/A
Research output: Contribution to journal › Article
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis
Tabolacci, E., Pucci, C., Pane, M., Mercuri, E. M., Genuardi, M., Chiurazzi, P., Zollino, M., Nobile, V. & Musto, E., 2021, In: Genes. 12, p. 1909-N/A
Research output: Contribution to journal › Article
Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis
Tabolacci, E., Pucci, C., Pane, M., Mercuri, E. M., Genuardi, M., Chiurazzi, P., Zollino, M., Nobile, V., Musto, E. & Neri, G., 2021, In: Genes. 12, p. 1909-1909 1 p.
Research output: Contribution to journal › Article
Detection of Pitt–Hopkins syndrome based on morphological facial features
Zollino, M., D’Amato, E., Reyes-Aldasoro, C. C., Consiglio, A., D’Amato, G. & Faienza, M. F., 2021, In: APPLIED SCIENCES. 11, p. 12086-12086 1 p.
Research output: Contribution to journal › Article

Marcella Zollino

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype

Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis

Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis

Detection of Pitt–Hopkins syndrome based on morphological facial features

Marcella Zollino

Personal profile

Academic discipline

Fingerprint

Network

Research output

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype

Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis

Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis

Detection of Pitt–Hopkins syndrome based on morphological facial features