Publications by authors named "Maria Cavaliere"

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Use of Honey Bees and Hive Products as Bioindicators to Assess Environmental Contamination in Targeted Areas of the Campania Region (Italy).
Patrizio Catalano, Francesco Della Sala, Maria Cavaliere, Carla Caputo, Domenico Pecoraro

Animals (Basel)· May 2024

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The routines of women with fibromyalgia and an interdisciplinary challenge to promote self-care.
Julianna Pereira Ramos Oliveira, Lina Marcia Migueis Berardinelli, Maria Lucia Alves Cavaliere, Regina Celi Alves Rosa, Luciene Pires da Costa

Rev Gaucha Enferm· March 2020

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Endoscopic and Phoniatric Evaluation in Singing Students.
Andrea Nacci, Giovanna Baracca, Salvatore Osvaldo Romeo, Maria Denise Cavaliere, Maria Rosaria Barillari

J Voice· March 2019

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Complications with Fiberoptic Endoscopic Evaluation of Swallowing in 2,820 Examinations.
Andrea Nacci, Jacopo Matteucci, Salvatore Osvaldo Romeo, Stefania Santopadre, Maria Denise Cavaliere

Folia Phoniatr Logop· March 2018

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Kinematic analysis of subtalar eversion during gait in women with fibromyalgia.
Ana Paula Silva, Daniel das Virgens Chagas, Maria Lúcia Cavaliere, Sérgio Pinto, José Silvio de Oliveira Barbosa

Foot (Edinb)· August 2016

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NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.
Fiorella Gurrieri, Maria Luigia Cavaliere, Anita Wischmeijer, Corrado Mammì, Giovanni Neri

Eur J Med Genet· September 2015

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Increased multiple sclerosis relapses related to lower prevalence of pain.
José Vinícius Martins da Silva, Beatriz Fátima Alves de Oliveira, Osvaldo José Moreira do Nascimento, João Gabriel Dib Farinhas, Maria Graziella Cavaliere

Arq Neuropsiquiatr· July 2015

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Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.
Elena Parrini, Davide Mei, Maria Antonietta Pisanti, Serena Catarzi, Daniela Pucatti, Maria Luigia Cavaliere

J Med Genet· June 2015

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Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
Daniela Rusconi, Gloria Negri, Patrizia Colapietro, Chiara Picinelli, Donatella Milani, Maria Luigia Cavaliere

Hum Genet· June 2015

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A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
Agostina De Crescenzo, Valentina Citro, Andrea Freschi, Angela Sparago, Orazio Palumbo, Maria Luigia Cavaliere

J Hum Genet· June 2015

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Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Lucia Micale, Bartolomeo Augello, Claudia Maffeo, Angelo Selicorni, Federica Zucchetti, Maria Luigia Cavaliere

Hum Mutat· July 2014

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Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
Marina Tarsitano, Carlo Ceglia, Antonio Novelli, Anna Capalbo, Barbara Lombardo, Maria Luigia Cavaliere

Gene· February 2014

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3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.
Julien Thevenon, Patrick Callier, Hélène Poquet, Iben Bache, Bjorn Menten, Maria Luigia Cavaliere

J Med Genet· January 2014

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Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event.
Rita Genesio, Valentina Ronga, Pia Castelluccio, Gennaro Fioretti, Angela Mormile, Maria Luigia Cavaliere

Mol Cytogenet· August 2013

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20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.
Michele Ciavarella, Michelina Coco, Filomena Baorda, Pietro Stanziale, Massimiliano Chetta, Maria Luigia Cavaliere

Gene· February 2013

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Trisomy 7 and deletion of the 9p21 locus as novel acquired abnormalities in a case of pediatric biphenotypic acute leukemia.
Marina Tarsitano, Anna Leszl, Rosanna Parasole, Maria Luigia Cavaliere, Giuseppe Menna

J Pediatr Hematol Oncol· April 2012

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Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Pasquale Striano, Antonietta Coppola, Roberta Paravidino, Michela Malacarne, Stefania Gimelli, Maria Luigia Cavaliere

Arch Neurol· March 2012

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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
Simone Martinelli, Alessandro De Luca, Emilia Stellacci, Cesare Rossi, Saula Checquolo, Maria L Cavaliere

Am J Hum Genet· August 2010

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Detection of the t(11;14)(q13;q32) without CCND1/IGH fusion in a case of acute myeloid leukemia.
Marina Tarsitano, Salvatore Palmieri, Felicetto Ferrara, Cira Riccardi, Maria Luigia Cavaliere

Cancer Genet Cytogenet· December 2009

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Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.
Alessandra Pangrazio, Maria Elena Caldana, Cristina Sobacchi, Cristina Panaroni, Lucia Susani, Maria Luigia Cavaliere

J Bone Miner Res· January 2009

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Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.
Pasquale Striano, Michela Malacarne, Simona Cavani, Mauro Pierluigi, Rosanna Rinaldi, Maria Luigia Cavaliere

Am J Med Genet A· September 2006

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Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
Alfredo Orrico, Lucia Galli, Maria Luigia Cavaliere, Livia Garavelli, Jean-Pierre Fryns

Eur J Hum Genet· January 2004

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An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration.
Francesca Simonell, Francesco Testa, Anna Nesti, Giuseppe de Crecchio, Mario Bifani, Maria Luisa Cavaliere

J Pediatr Ophthalmol Strabismus· February 2003

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