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GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.
Bone. 2021 Mar;144:115803. doi: 10.1016/j.bone.2020.115803. Epub 2021 Jan 12.
Bone. 2021.
PMID: 33333243
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.
Traversa A, Marchionni E, Giovannetti A, Genovesi ML, Panzironi N, Margiotti K, Napoli G, Piceci Sparascio F, De Luca A, Petrizzelli F, Carella M, Cardona F, Bernardo S, Manganaro L, Mazza T, Pizzuti A, Caputo V.
Traversa A, et al. Among authors: panzironi n.
Mol Genet Genomic Med. 2020 Aug;8(8):e1336. doi: 10.1002/mgg3.1336. Epub 2020 Jun 10.
Mol Genet Genomic Med. 2020.
PMID: 32519823
Free PMC article.
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Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
Napoli G, Panzironi N, Traversa A, Catalanotto C, Pace V, Petrizzelli F, Giovannetti A, Lazzari S, Cogoni C, Tartaglia M, Carella M, Mazza T, Pizzuti A, Parisi C, Caputo V.
Napoli G, et al. Among authors: panzironi n.
Mol Neurobiol. 2022 Aug;59(8):4825-4838. doi: 10.1007/s12035-022-02886-4. Epub 2022 May 31.
Mol Neurobiol. 2022.
PMID: 35639255
Free PMC article.
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Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome.
Petrizzelli F, Biagini T, Barbieri A, Parca L, Panzironi N, Castellana S, Caputo V, Vescovi AL, Carella M, Mazza T.
Petrizzelli F, et al. Among authors: panzironi n.
Comput Struct Biotechnol J. 2020 Jul 25;18:2033-2042. doi: 10.1016/j.csbj.2020.07.013. eCollection 2020.
Comput Struct Biotechnol J. 2020.
PMID: 32802275
Free PMC article.
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MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits.
Castellana S, Biagini T, Petrizzelli F, Parca L, Panzironi N, Caputo V, Vescovi AL, Carella M, Mazza T.
Castellana S, et al. Among authors: panzironi n.
Nucleic Acids Res. 2021 Jan 8;49(D1):D1282-D1288. doi: 10.1093/nar/gkaa1032.
Nucleic Acids Res. 2021.
PMID: 33300029
Free PMC article.
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MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants.
Giovannetti A, Bianco SD, Traversa A, Panzironi N, Bruselles A, Lazzari S, Liorni N, Tartaglia M, Carella M, Pizzuti A, Mazza T, Caputo V.
Giovannetti A, et al. Among authors: panzironi n.
Hum Mutat. 2022 Sep;43(9):1201-1215. doi: 10.1002/humu.24399. Epub 2022 May 29.
Hum Mutat. 2022.
PMID: 35583122
Free PMC article.
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Functional associations between polymorphic regions of the human 3'IgH locus and COVID-19 disease.
Colucci M, Frezza D, Gambassi G, De Vito F, Iaquinta A, Massaro MG, Di Giambenedetto S, Borghetti A, Lombardi F, Panzironi N, Ruggieri V, Giambra V, Cianci R.
Colucci M, et al. Among authors: panzironi n.
Gene. 2022 Sep 5;838:146698. doi: 10.1016/j.gene.2022.146698. Epub 2022 Jun 27.
Gene. 2022.
PMID: 35772651
Free PMC article.
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