Nenad Bukvic MD PhD

All papers authored by Nenad Bukvic MD PhD

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2024 Anna Diana, Angela Maria Polizzi, Annunziata De Luisi, Maria Giuseppina Pantaleo, Giuseppina Leonetti, Simonetta Simonetti, Nenad Bukvic

, Matteo Iacoviello

, Roberta Bucci, Mattia Gentile

, Nicoletta Resta

First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele

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2022 Massimiliano Chetta

, Marina Tarsitano, Maria Oro, Maria Rivieccio, Nenad Bukvic

An in silico pipeline approach uncovers a potentially intricate network involving spike SARS-CoV-2 RNA, RNA vaccines, host RNA-binding proteins (RBPs), and host miRNAs at the cellular level

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2021 Claudia Piccoli, Rosella Scrima, Annamaria D’Aprile, Massimiliano Chetta, Olga Cela, Consiglia Pacelli

, Maria Ripoli, Giovanna D’Andrea, Maurizio Margaglione, Nenad Bukvic

, Nazzareno Capitanio

Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C)

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Massimiliano Chetta, Marina Tarsitano, Laura Vicari, Annalisa Saracino, Nenad Bukvic

In Silico Analysis of Possible Interaction between Host Genomic Transcription Factors (TFs) and Zika Virus (ZikaSPH2015) Strain with Combinatorial Gene Regulation; Virus Versus Host—The Game Reloaded

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2020 Nicola Laforgia

, Lucrezia De Cosmo, Orazio Palumbo

, Carlotta Ranieri, Michela Sesta, Donatella Capodiferro, Antonino Pantaleo

, Pierluigi Iapicca

, Patrizia Lastella, Manuela Capozza

, Federico Schettini, Nenad Bukvic

, Rosanna Bagnulo, Nicoletta Resta

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein

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Massimiliano Chetta

, Alessandra Rosati, Liberato Marzullo, Marina Tarsitano, Nenad Bukvic

A SARS-CoV-2 host infection model network based on genomic human Transcription Factors (TFs) depletion

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Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella, Nenad Bukvic

The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate

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Sandra Whalen, Marjolaine Willems, Maud Jordan, Pierre Vabres, Virginie Carmignac, Arthur Sorlin, Paul Kuentz, Juliette Albuisson, Christine Chiaverini, Luca Borradori, Bruno Delobel, Marine Fournet, Emmanuelle Bourrat, Jehanne Martel, Alice Goldenberg and 14 other authors

Reverse Phenotyping in Patients with Skin Capillary Malformations and Mosaic GNAQ or GNA11 Mutations Defines a Clinical Spectrum with Genotype-Phenotype Correlation

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Massimiliano Chetta, Lorena Di Pietro

, Nenad Bukvic

, Wanda Lattanzi

Rising Roles of Small Noncoding RNAs in Cotranscriptional Regulation: In Silico Study of miRNA and piRNA Regulatory Network in Humans

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2019 Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Maria Pia Leone, Stefano Castellana, Tommaso Biagini, Tommaso Mazza, Valentina Leotta, Massimo Carella, Nenad Bukvic

Expanding the Clinical and Molecular Spectrum of PSMD12-Related Neurodevelopmental Syndrome: An Additional Patient and Review

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2018 Alessandro Stella, Patrizia Lastella, Daria Loconte, Nenad Bukvic

, Dora Varvara, Margherita Patruno, Rosanna Bagnulo, Rosaura Lovaglio, Nicola Bartolomeo

, Gabriella Serio, Nicoletta Resta

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1

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2016 Nenad Bukvic

, Francesca Boaretto, Giuseppe Loverro, Francesco Susca, C. Susca Francesco, Rosaura Lovaglio, Margherita Patruno, Dragoslav Bukvic, Starcevic Srđan, Giovanni Vazza, Srdjan Starcevic, Mostaciuollo Maria Luisa, Maria Mostaciuollo, Resta Nicoletta

Familly with two different cases of post- and pre-natal l1 syndrome: When hydrocephaly become “multidisciplinary headache”

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2015 Andrea Ballini, F. Mastrangelo, L. Tettamanti, G. Gastaldi, S. Cantore, T. Cocco, R. Saini, N. Bukvic

, A. Desiate, E. Gherlone, Salvatore Scacco

Osteogenic differentiation and gene expression of dental pulp stem cells under low-level laser irradiation: a good promise for tissue engineering.

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Nenad Bukvic

, Dora Varvara, Cesare Rossi, Maria Felicia-Faienza, Francesco Susca, Nicoletta Resta

FROM CLINICAL SUSPECT TO MOLECULAR CONFIRMATION OF NOONAN SYNDROME; CONTRIBUTION OF “BEST PRACTICE” GENETIC COUNSELING AND NEW TECHNICAL POSSIBILITIES

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Nenad Bukvic

, John W. Elling

Genetics in the art and art in genetics

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2013 Nenad Bukvic

, Carla Cesarano, Caterina Ceccarini, Marianna Bruno, Maria Rosaria Lipsi, Maria Grazia Gallicchio, Maria Assunta Carboni, Lucia Valente, Giulia Cotoia, Raffaele Antonetti

Characterization of the first adult de novo case of 46,X,der(Y)t(X;Y)(p22.3;q11.2)

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2012 Wanda Lattanzi, Nenad Bukvic

, Marta Barba

, Gianpiero Tamburrini, Camilla Bernardini, Fabrizio Michetti, Concezio Di Rocco

Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications

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Natasa Gojkovic-Bukvic, Nenad Bukvic

Wider Action Plan and Multidisciplinar Approach Could Be a Wining Idea in Creation of Friendly Environment

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2011 Massimiliano Chetta, Valeria Bafunno, Rosario Magaldi, Vincenzo Bertozzi, Nenad Bukvic

, Maurizio Margaglione, Michelina Sarno, Gianpaolo Grilli, Francesco Perfetto

McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family

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2010 N. Bukvic

, V. Delli Carri, M. L. Di Cosola, G. Pustorino, C. Cesarano, M. Chetta, R. Santacroce, M. Sarno, F. Sessa, V. Longo, A. Novelli, M. Gentile

, M. Margaglione

Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH

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All papers authored by Nenad Bukvic MD PhD