Search Results - "Faravelli, F"

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate by Laumonnier, F, Holbert, S, Ronce, N, Faravelli, F, Lenzner, S, Schwartz, C E, Lespinasse, J, Van Esch, H, Lacombe, D, Goizet, C, Phan-Dinh Tuy, F, van Bokhoven, H, Fryns, J-P, Chelly, J, Ropers, H-H, Moraine, C, Hamel, B C J, Briault, S

“…Truncating mutations were found in the PHF8 gene (encoding the PHD finger protein 8) in two unrelated families with X linked mental retardation (XLMR)…”
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Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature by Garavelli, L., Zollino, M., Mainardi, P. Cerruti, Gurrieri, F., Rivieri, F., Soli, F., Verri, R., Albertini, E., Favaron, E., Zignani, M., Orteschi, D., Bianchi, P., Faravelli, F., Forzano, F., Seri, M., Wischmeijer, A., Turchetti, D., Pompilii, E., Gnoli, M., Cocchi, G., Mazzanti, L., Bergamaschi, R., De Brasi, D., Sperandeo, M.P., Mari, F., Uliana, V., Mostardini, R., Cecconi, M., Grasso, M, Sassi, S., Sebastio, G., Renieri, A., Silengo, M., Bernasconi, S., Wakamatsu, N., Neri, G.

“…Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene, and characterized by typical…”
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Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene by Gentilin, B., Forzano, F., Bedeschi, M. F., Rizzuti, T., Faravelli, F., Izzi, C., Lituania, M., Rodriguez‐Perez, C., Bondioni, M. P., Savoldi, G., Grosso, E., Botta, G., Viora, E., Baffico, A. M., Lalatta, F.

“…Objectives Campomelic dysplasia is a rare congenital skeletal disorder characterized by bowing of the long bones and a variety of other skeletal and…”
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Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation by Giorgio, E., Caroti, C., Mattioli, F., Uliana, V., Parodi, M. I., D’Amico, Mauro, Fucile, C., Marini, V., Forzano, F., Cassola, G., Martelli, A., Faravelli, F., Di Maria, E.

“…The fluoropyrimidines are commonly used in chemotherapeutic cancer medicine, but many patients still experience severe adverse side effects from these drugs…”
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Chromosomal microarray as first‐tier approach in low‐risk pregnancies: detection rate should not be the only criterion for its application by Baroncini, A., Sinibaldi, L., Bernardini, L., Cavalli, P., Faravelli, F., Gentile, M., Lituania, M., Volpe, P., Camurri, L., Novelli, A., Dallapiccola, B.

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Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients by Pastorino, L., Cusano, R., Nasti, S., Faravelli, F., Forzano, F., Baldo, C., Barile, M., Gliori, S., Muggianu, M., Ghigliotti, G., Lacaita, M.G., Lo Muzio, L., Bianchi-Scarra, G.

“…Mutations in the PTCH gene, the human homolog of the Drosophila patched gene, have been found to lead to the autosomal dominant disorder termed Nevoid Basal…”
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Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome? by Ejarque, I, Uliana, V, Forzano, F, Marciano, C, Merla, G, Zelante, L, Di Maria, E, Faravelli, F

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Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome by Tatton-Brown, K, Douglas, J, Coleman, K, Baujat, G, Chandler, K, Clarke, A, Collins, A, Davies, S, Faravelli, F, Firth, H, Garrett, C, Hughes, H, Kerr, B, Liebelt, J, Reardon, W, Schaefer, G B, Splitt, M, Temple, I K, Waggoner, D, Weaver, D D, Wilson, L, Cole, T, Cormier-Daire, V, Irrthum, A, Rahman, N

“…Background: Sotos syndrome (MIM 117550) is characterised by learning difficulties, overgrowth, and a typical facial appearance. Microdeletions at 5q35.3,…”
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Crisponi syndrome: Report of a further patient by Accorsi, P., Giordano, L., Faravelli, F.

“…Crisponi syndrome was described in the original paper in 17 patients form 12 families [Crisponi, 1996: Am J Med Genet 62:365–371]. It is characterised by…”
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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations by Rossi, Elena, Piccini, Flavia, Zollino, Marcella, Neri, Giovanni, Caselli, Desirée, Tenconi, Romano, Castellan, Claudio, Carrozzo, Romeo, Danesino, Cesare, Zuffardi, Orsetta, Ragusa, Angela, Castiglia, Lucia, Galesi, Ornella, Greco, Donatella, Romano, Corrado, Pierluigi, Mauro, Perfumo, Chiara, Di Rocco, Maia, Faravelli, Francesca, Bricarelli, Franca Dagna, Bonaglia, MariaClara, Bedeschi, MariaFrancesca, Borgatti, Renato

“…[...]in our patients, subtelomeric rearrangements were always associated not only with moderate or severe mental retardation but also with dysmorphic features…”
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Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers by Giordano, L., Vignoli, A., Pinelli, L., Brancati, F., Accorsi, P., Faravelli, F., Gasparotti, R., Granata, T., Giaccone, G., Inverardi, F., Frassoni, C., Dallapiccola, B., Valente, E.M., Spreafico, R.

“…Joubert syndrome (JS) is characterized by hypotonia, ataxia, developmental delay, and a typical neuroimaging finding, the so‐called “molar tooth sign” (MTS)…”
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A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and “patchy” expression in the mosaic father by Forzano, F., Lituania, M., Viassolo, A., Superti‐Furga, V., Wildhardt, G., Zabel, B., Faravelli, F.

“…Achondrogenesis type II (ACG2) is the most severe disorder that can be produced by dominant mutations in COL2A1. We report on four pregnancies of an apparently…”
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Prenatal diagnosis of Gollop-Wolfgang Complex by Forzano, Francesca, Viassolo, V., Castagnetta, M., Cavani, S., Battistuzzi, L., Garbati, E., Emiliozzi, M.C., Cecchi, A., Faravelli, F., Lituania, M.

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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing by Perroni, L., Faravelli, F., Cusano, R., Forzano, F., De Cassan, P., Baldo, C., Bricarelli, F. Dagna

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Clinical heterogeneity of familial pseudohypoparathyroidism by Foppiani, L, Del Monte, P, Faravelli, F, de Sanctis, L, Marugo, A, Bernasconi, D

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Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis by Pastorino, L., Cusano, R., Baldo, C., Forzano, F., Nasti, S., Di Rocco, M., Carta, M., Bricarelli, F. Dagna, Faravelli, F., Scarrà, G. Bianchi

“…Background  Diagnosis of Nevoid Basal Cell Carcinoma Syndrome (NBCCS) in infants may pose significant challenges to clinicians owing to its variable…”
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Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations by Cavani, S., Perfumo, C., Faravelli, F., Malacarne, M., Sogliani, M., Piombo, G., Zerega, G., Zucca, M., Dagna Bricarelli, F., Pierluigi, M.

“…Here we describe a foetus with intrauterine growth retardation (IUGR), cerebral malformations and a 46,XY,der(1),t(1;6)(p36.3;q25.2) karyotype owing to a…”
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Cerebro-fronto-facial syndrome: report of a further case by Forzano, F., Faravelli, F., Rocco, M. Di

“…Cerebro-fronto-facial syndrome had only recently been described in 2001. We present a boy who has dysmorphic features similar to the case described by Der…”
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NSD1 mutations in Sotos syndrome by Faravelli, Francesca

“…Sotos syndrome is a genetic disorder characterized by a typical facial appearance, macrocephaly, accelerated growth, developmental delay, and a variable range…”
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The evolving role of the geneticist: an innovative clinical outcomes system to record changing department practice by Menzies, L, Jones, W, Clement, E, Male, A, Kumar, A, Barnicoat, A, Faravelli, F

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