Search Results - "SCARANO, G"

Say‐Barber‐Biesecker‐Young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? by Lonardo, F., Lonardo, M.S., Acquaviva, F., Della Monica, M., Scarano, F., Scarano, G.

“…The Say‐Barber‐Biesecker‐Young‐Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are 2 rare but clinically well‐described diseases…”
Get full text

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene by Negri, G., Milani, D., Colapietro, P., Forzano, F., Della Monica, M., Rusconi, D., Consonni, L., Caffi, L. G., Finelli, P., Scarano, G., Magnani, C., Selicorni, A., Spena, S., Larizza, L., Gervasini, C.

“…Rubinstein‐Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities,…”
Get full text

WNT4 deficiency—a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: A Case Report by Biason-Lauber, A., De Filippo, G., Konrad, D., Scarano, G., Nazzaro, A., Schoenle, E.J.

“…The pathways leading to female sexual determination in mammals are incompletely defined. Loss-of-function mutations in the WNT4 gene appear to cause…”
Get full text

Fast near-maximum likelihood phase estimation of X-ray pulsars by Rinauro, S., Colonnese, S., Scarano, G.

“…This letter addresses the problem of X-ray pulsar radiation phase estimation, encountered in research works concerning autonomous deep space navigation…”
Get full text

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients by Spena, S., Milani, D., Rusconi, D., Negri, G., Colapietro, P., Elcioglu, N., Bedeschi, F., Pilotta, A., Spaccini, L., Ficcadenti, A., Magnani, C., Scarano, G., Selicorni, A., Larizza, L., Gervasini, C.

“…The genetic basis of Rubinstein–Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide…”
Get full text

Prenatal diagnosis of severe structural congenital malformations in Europe by Garne, E., Loane, M., Dolk, H., De Vigan, C., Scarano, G., Tucker, D., Stoll, C., Gener, B., Pierini, A., Nelen, V., Rösch, C., Gillerot, Y., Feijoo, M., Tincheva, R., Queisser‐Luft, A., Addor, M.‐C., Mosquera, C., Gatt, M., Barisic, I.

“…Objectives To assess at a population‐based level the frequency with which severe structural congenital malformations are detected prenatally in Europe and the…”
Get full text

The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys by Bedeschi, M. F., Mora, S., Antoniazzi, F., Boero, S., Ravasio, R., Scarano, G., Selicorni, A., Sessa, M., Verdoni, F., Zampino, G., Maghnie, M.

“…Purpose This study aimed to assess the real-world management of achondroplasia in Italy. Methods Two online surveys addressed to (1) parents/caregivers of…”
Get full text

SNORD116 deletions cause Prader‐Willi syndrome with a mild phenotype and macrocephaly by Fontana, P., Grasso, M., Acquaviva, F., Gennaro, E., Galli, M.L., Falco, M., Scarano, F., Scarano, G., Lonardo, F.

“…Prader‐Willi syndrome is a complex condition caused by lack of expression of imprinted genes in the paternally derived region of chromosome 15 (15q11q13). A…”
Get full text

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH by Vetro, A., Goidin, D., Lesende, I., Limongelli, I., Ranzani, G.N., Novara, F., Bonaglia, M.C., Rinaldi, B., Franchi, F., Manolakos, E., Lonardo, F., Scarano, F., Scarano, G., Costantino, L., Tedeschi, S., Giglio, S., Zuffardi, O.

“…Whole exome sequencing (WES) has made the identification of causative SNVs/InDels associated with rare Mendelian conditions increasingly accessible…”
Get full text

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome by Lopez-Atalaya, J P, Gervasini, C, Mottadelli, F, Spena, S, Piccione, M, Scarano, G, Selicorni, A, Barco, A, Larizza, L

“…Rubinstein-Taybi syndrome (RSTS) is a congenital neurodevelopmental disorder defined by postnatal growth deficiency, characteristic skeletal abnormalities and…”
Get more information

Bayesian image interpolation using Markov random fields driven by visually relevant image features by Colonnese, S., Rinauro, S., Scarano, G.

“…In this paper we present a Markov Random Field (MRF) based image interpolation procedure suited to both noise-free and noisy measurements. Specifically, after…”
Get full text

Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide by Wilcken, B, Bamforth, F, Li, Z, Zhu, H, Ritvanen, A, Redlund, M, Stoll, C, Alembik, Y, Dott, B, Czeizel, A E, Gelman-Kohan, Z, Scarano, G, Bianca, S, Ettore, G, Tenconi, R, Bellato, S, Scala, I, Mutchinick, O M, López, M A, de Walle, H, Hofstra, R, Joutchenko, L, Kavteladze, L, Bermejo, E, Martínez-Frías, M L, Gallagher, M, Erickson, J D, Vollset, S E, Mastroiacovo, P, Andria, G, Botto, L D

Get full text

Synthesis and stability of phytochelatins induced by cadmium and lead in the marine diatom Phaeodactylum tricornutum by Morelli, E., Scarano, G.

“…The synthesis of phytochelatins (PC), intracellular metal-binding polypeptides characterized by a repeating sequence of γ-glutamic acid- cysteine (γ-Glu-Cys)…”
Get full text

Discrete time techniques for time delay estimation by Jacovitti, G., Scarano, G.

“…Basic aspects of time delay estimation (TDE) based on sampled signals are investigated. The direct cross-correlation method is analyzed and compared to the…”
Get full text

Kounis Syndrome as First Manifestation of Allergic Sensitization by Petrarca, Claudia, Paganelli, R., Di Giampaolo, L., Di Gioacchino, Mario, Farinelli, A., Della Valle, L., Gatta, A., Paloscia, L., Di Marco, M., D’Alleva, A., Scarano, G., Forlani, D., Lumaca, A.

“…Mast cells are abundant in the heart, among myocardial fibers, around coronary arteries, within arterial intima and intramural vessels, and in atherosclerotic…”
Get full text

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation by Selicorni, A, Russo, S, Gervasini, C, Castronovo, P, Milani, D, Cavalleri, F, Bentivegna, A, Masciadri, M, Domi, A, Divizia, MT, Sforzini, C, Tarantino, E, Memo, L, Scarano, G, Larizza, L

“…Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder characterized by facial dysmorphisms, upper limb abnormalities, growth and cognitive…”
Get full text

Gain-Control-Free Near-Efficient Phase Acquisition for QAM Constellations by Panci, G., Colonnese, S., Rinauro, S., Scarano, G.

“…This paper introduces a novel, not data aided, phase-offset estimator for quadrature amplitude modulated (QAM) signals. Contrarily to near-efficient existing…”
Get full text

Robust rotation-invariant texture classification using a model based approach by Campisi, P., Neri, A., Panci, G., Scarano, G.

“…In this paper, a model based texture classification procedure is presented. The texture is modeled as the output of a linear system driven by a binary image…”
Get full text

Semiblind Bussgang Equalization for Sparse Channels by Colonnese, S., Panci, G., Rinauro, S., Scarano, G.

“…In this correspondence, we describe a semiblind Bussgang equalization scheme that incorporates the training sequence in a quite direct and flexible fashion…”
Get full text

Multichannel blind image deconvolution using the Bussgang algorithm: spatial and multiresolution approaches by Panci, G., Campisi, P., Colonnese, S., Scarano, G.

“…This work extends the Bussgang blind equalization algorithm to the multichannel case with application to image deconvolution problems. We address the…”
Get full text