Palumbo O - Search Results

1

Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis.

Nicoletti A, Ziccardi L, Maltese PE, Benedetti S, Palumbo O, Rendina M, D'Agruma L, Falsini B, Wang X, Bertelli M. Nicoletti A, et al. Among authors: palumbo o. Genet Test Mol Biomarkers. 2017 Feb;21(2):116-121. doi: 10.1089/gtmb.2016.0257. Epub 2016 Dec 20. Genet Test Mol Biomarkers. 2017. PMID: 27997221 Free PMC article.

2

3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.

Palumbo O, D'Agruma L, Minenna AF, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M. Palumbo O, et al. Among authors: palumbo p. Gene. 2013 Mar 1;516(1):107-13. doi: 10.1016/j.gene.2012.12.073. Epub 2012 Dec 31. Gene. 2013. PMID: 23287644

3

Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

Guarnieri V, Seaberg RM, Kelly C, Jean Davidson M, Raphael S, Shuen AY, Baorda F, Palumbo O, Scillitani A, Hendy GN, Cole DEC. Guarnieri V, et al. Among authors: palumbo o. BMC Med Genet. 2017 Aug 3;18(1):83. doi: 10.1186/s12881-017-0445-0. BMC Med Genet. 2017. PMID: 28774260 Free PMC article.

4

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.

Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C. Nardella G, et al. Among authors: palumbo o. Hum Mutat. 2018 Dec;39(12):1885-1900. doi: 10.1002/humu.23629. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30161288

5

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.

Cinque L, Micale L, Manara E, Esposito A, Palumbo O, Chiariello AM, Bianco S, Guerri G, Bertelli M, Giuffrida MG, Bernardini L, Notarangelo A, Nicodemi M, Castori M. Cinque L, et al. Among authors: palumbo o. Hum Genet. 2022 Feb;141(2):217-227. doi: 10.1007/s00439-021-02403-y. Epub 2021 Nov 25. Hum Genet. 2022. PMID: 34821995

6

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

Bisceglia L, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L. Bisceglia L, et al. Among authors: palumbo o. Mol Genet Metab. 2010 Jan;99(1):42-52. doi: 10.1016/j.ymgme.2009.09.001. Mol Genet Metab. 2010. PMID: 19782624

7

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.

Palumbo O, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M. Palumbo O, et al. Among authors: palumbo p. Gene. 2013 Jan 15;513(1):209-13. doi: 10.1016/j.gene.2012.09.132. Epub 2012 Nov 7. Gene. 2013. PMID: 23142376 Review.

8

Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.

Palumbo O, Palumbo P, Delvecchio M, Palladino T, Stallone R, Crisetti M, Zelante L, Carella M. Palumbo O, et al. Among authors: palumbo p. Am J Med Genet A. 2015 Feb;167A(2):438-44. doi: 10.1002/ajmg.a.36872. Epub 2014 Nov 26. Am J Med Genet A. 2015. PMID: 25428890 Review.

9

Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.

Disciglio V, Devecchi A, Palumbo O, Carella M, Penso D, Milione M, Valle G, Pierotti MA, Vitellaro M, Bertario L, Canevari S, Signoroni S, De Cecco L. Disciglio V, et al. Among authors: palumbo o. Chin J Cancer. 2016 Jun 7;35(1):51. doi: 10.1186/s40880-016-0115-1. Chin J Cancer. 2016. PMID: 27267075 Free PMC article.

10

Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription.

Di Stolfo G, Accadia M, Mastroianno S, Leone MP, Palumbo O, Palumbo P, Potenza D, Maccarone P, Sacco M, Russo A, Carella M. Di Stolfo G, et al. Among authors: palumbo o, palumbo p. Mol Genet Genomic Med. 2019 Sep;7(9):e855. doi: 10.1002/mgg3.855. Epub 2019 Jul 25. Mol Genet Genomic Med. 2019. PMID: 31347270 Free PMC article.

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