• 999 Citations
  • 17 h-Index
19982019
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Research Output 1998 2019

  • 999 Citations
  • 17 h-Index
  • 62 Article
  • 1 Letter
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Article
2011
15 Citations (Scopus)
Dandy-Walker Syndrome
Down-Regulation
Gene Expression
Chromosome Deletion
Rhombencephalon
13 Citations (Scopus)

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

Pirozzi, F., Di Raimo, F. R., Zanni, G., Bertini, E., Billuart, P., Tartaglione, T., Tabolacci, E., Brancaccio, A., Neri, G. & Chiurazzi, P., Nov 2011, In : Human Mutation. 32, 11

Research output: Contribution to journalArticle

Intellectual Disability
GTPase-Activating Proteins
Amino Acids
Mutation
Proteins
14 Citations (Scopus)

X-linked disorders with cerebellar dysgenesis

Zanni, G. & Bertini, E. S., 2011, In : Orphanet Journal of Rare Diseases. 6, 1, 24.

Research output: Contribution to journalArticle

Cerebellar Diseases
X-Linked Genes
Ataxia
Muscle Hypotonia
X Chromosome
2010
37 Citations (Scopus)

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation

Zanni, G., Van Esch, H., Bensalem, A., Saillour, Y., Poirier, K., Castelnau, L., Ropers, H. H., De Brouwer, A. P. M., Laumonnier, F., Fryns, J. P. & Chelly, J., May 2010, In : Neurogenetics. 11, 2, p. 251-255 5 p.

Research output: Contribution to journalArticle

Intellectual Disability
Synapses
Post-Synaptic Density
Mutation
Genes
44 Citations (Scopus)

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonnière, M., Starck, L., Tantau, J., Gentilin, B. & 205 others, Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, P., Dallapiccola, B., Gleeson, J. G., Attie-Bitach, T., Valente, E. M., Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski-Bosnjak, V., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou-Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R., Bigoni, S., Ferlini, A., Andreucci, E., Donati, M. A., Genuardi, M., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Amorini, M., Briguglio, M., Briuglia, S., Rigoli, L., Salpietro, C., Tortorella, G., Adami, A., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Coppola, G., Del Giudice, E., Vitiello, G., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Macaluso, C., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Priolo, M., Cilio, M. R., D'Amico, A., Di Sabato, M. L., Emma, F., Leuzzi, V., Parisi, P., Stringini, G., Zanni, G., Pollazzon, M., Renieri, A., Vascotto, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., Mégarbané, A., Matuleviciene, A., Sabolic Avramovska, V., Said, E., De Jong, M. M., Prescott, T., Stromme, P., Von Der Lippe, C., Koul, R., Rajab, A., Azam, M., Barbot, C., Jocic-Jakubi, B., Gener Querol, B., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Strozzi, S., Fluss, J., Teber M, S., Topcu, N. V., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yüksel, A., Akgul, M., Akcakus, M., Al Gazali, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Sheridan, E., Barnicoat, A., Carr, L., Hennekam, R., Lees, M., McKay, F., Yates, L., Blair, E., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J. & Viskochil, D., May 2010, In : Human Mutation. 31, 5

Research output: Contribution to journalArticle

Genotype
Phenotype
Mutation
Exons
Fetus
2008
12 Citations (Scopus)

X-linked congenital ataxia: A new locus maps to Xq25-q27.1

Zanni, G., Bertini, E., Bellcross, C., Nedelec, B., Froyen, G., Neuhäuser, G., Opitz, J. M. & Chelly, J., Mar 1 2008, In : American Journal of Medical Genetics, Part A. 146, 5, p. 593-600 8 p.

Research output: Contribution to journalArticle

Cerebellar Ataxia
Ataxia
Intelligence
Neuroimaging
Genes
2007
38 Citations (Scopus)

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

Saillour, Y., Zanni, G., Des Portes, V., Heron, D., Guibaud, L., Iba-Zizen, M. T., Pedespan, J. L., Poirier, K., Castelnau, L., Julien, C., Franconnet, C., Bonthron, D., Porteous, M. E., Chelly, J. & Bienvenu, T., Nov 2007, In : Journal of Medical Genetics. 44, 11, p. 739-744 6 p.

Research output: Contribution to journalArticle

Adaptor Protein Complex 1
X-Linked Mental Retardation
Sigma Factor
Hydrocephalus
Basal Ganglia
2005
64 Citations (Scopus)

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

Zanni, G., Saillour, Y., Nagara, M., Billuart, P., Castelnau, L., Moraine, C., Faivre, L., Bertini, E., Durr, A., Guichet, A., Rodriguez, D., Des Portes, V., Beldjord, C., Chelly, J. & Kleefstra, N. V., Nov 8 2005, In : Neurology. 65, 9, p. 1364-1369 6 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Mutation
Intellectual Disability
Denaturing Gradient Gel Electrophoresis
Nonsense Codon
5 Citations (Scopus)

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family

Van Esch, H., Zanni, G., Holvoet, M., Borghgraef, M., Chelly, J., Fryns, J. P. & Devriendt, K., Apr 2005, In : European Journal of Medical Genetics. 48, 2, p. 145-152 8 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Microcephaly
Hypogonadism
Intellectual Disability
Chromosome Mapping
2002
97 Citations (Scopus)

Defects of blastogenesis

Opitz, J. M., Zanni, G., Reynolds, J. F. & Gilbert-Barness, E., Dec 2002, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 115, 4, p. 269-286 18 p.

Research output: Contribution to journalArticle

Lymphocyte Activation
Fetus
Morphogenesis
Pentalogy of Cantrell
Embryonic Structures
2000
34 Citations (Scopus)

X-linked congenital ataxia: A clinical and genetic study

Bertini, E., Des Portes, V., Zanni, G., Santorelli, F., Dionisi-Vici, C., Vicari, S., Fariello, G. & Chelly, J., May 1 2000, In : American Journal of Medical Genetics. 92, 1, p. 53-56 4 p.

Research output: Contribution to journalArticle

Ataxia
Cerebellar Ataxia
Neuromuscular Diseases
Pyramidal Tracts
Muscle Hypotonia
1998
145 Citations (Scopus)

Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome

Neri, G., Gurrieri, F., Zanni, G. & Lin, A., Oct 2 1998, In : American Journal of Medical Genetics. 79, 4, p. 279-283 5 p.

Research output: Contribution to journalArticle

Glypicans
X-Linked Genes
Muscle Hypotonia
Wilms Tumor
Congenital Heart Defects