Melchionda S - Search Results

1

An Original ELISA-Based Multiplex Method for the Simultaneous Detection of 5 SARS-CoV-2 IgG Antibodies Directed against Different Antigens.

Gillot C, Douxfils J, Cadrobbi J, Laffineur K, Dogné JM, Elsen M, Eucher C, Melchionda S, Modaffarri É, Tré-Hardy M, Favresse J. Gillot C, et al. Among authors: melchionda s. J Clin Med. 2020 Nov 21;9(11):3752. doi: 10.3390/jcm9113752. J Clin Med. 2020. PMID: 33233405 Free PMC article.

2

An original multiplex method to assess five different SARS-CoV-2 antibodies.

Favresse J, Brauner J, Bodart N, Vigneron A, Roisin S, Melchionda S, Douxfils J, Ocmant A. Favresse J, et al. Among authors: melchionda s. Clin Chem Lab Med. 2020 Dec 21;59(5):971-978. doi: 10.1515/cclm-2020-1652. Print 2021 Apr 27. Clin Chem Lab Med. 2020. PMID: 33554567 Free article.

3

Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family.

Ortore RP, Leone MP, Palumbo O, Petracca A, Trecca EMC, D'Ecclesia A, Vigliaroli CL, Micale L, Longo F, Melchionda S, Castori M. Ortore RP, et al. Among authors: melchionda s. Audiol Res. 2021 Sep 9;11(3):443-451. doi: 10.3390/audiolres11030041. Audiol Res. 2021. PMID: 34562879 Free PMC article.

4

Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?

Negrisolo S, Carraro A, Fregonese G, Benetti E, Schaefer F, Alberti M, Melchionda S, Fischetto R, Giordano M, Murer L. Negrisolo S, et al. Among authors: melchionda s. Eur J Hum Genet. 2018 Nov;26(11):1708-1712. doi: 10.1038/s41431-018-0213-4. Epub 2018 Jul 4. Eur J Hum Genet. 2018. PMID: 29973660 Free PMC article.

5

Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.

Leone MP, Palumbo P, Ortore R, Castellana S, Palumbo O, Melchionda S, Palladino T, Stallone R, Mazza T, Cocchi R, Carella M. Leone MP, et al. Among authors: melchionda s. Mol Cell Probes. 2017 Jun;33:24-27. doi: 10.1016/j.mcp.2017.03.001. Epub 2017 Mar 3. Mol Cell Probes. 2017. PMID: 28263784

6

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

Melchionda S, Palladino T, Castellana S, Giordano M, Benetti E, De Bonis P, Zelante L, Bisceglia L. Melchionda S, et al. J Hum Genet. 2016 Sep;61(9):811-21. doi: 10.1038/jhg.2016.58. Epub 2016 May 26. J Hum Genet. 2016. PMID: 27225849

7

EYA1-related disorders: two clinical cases and a literature review.

Castiglione A, Melchionda S, Carella M, Trevisi P, Bovo R, Manara R, Martini A. Castiglione A, et al. Among authors: melchionda s. Int J Pediatr Otorhinolaryngol. 2014 Aug;78(8):1201-10. doi: 10.1016/j.ijporl.2014.03.032. Epub 2014 Apr 12. Int J Pediatr Otorhinolaryngol. 2014. PMID: 24803398 Review.

8

Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes.

Ercolino T, Lai R, Giachè V, Melchionda S, Carella M, Delitala A, Mannelli M, Fanciulli G. Ercolino T, et al. Among authors: melchionda s. Gene. 2014 Feb 25;536(2):332-5. doi: 10.1016/j.gene.2013.12.003. Epub 2013 Dec 21. Gene. 2014. PMID: 24361808

9

Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation.

Bacci C, Sestini R, Ammannati F, Bianchini E, Palladino T, Carella M, Melchionda S, Zelante L, Papi L. Bacci C, et al. Among authors: melchionda s. Clin Genet. 2010 Mar;77(3):293-7. doi: 10.1111/j.1399-0004.2009.01292.x. Epub 2009 Oct 23. Clin Genet. 2010. PMID: 19863548

10

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.

Cama E, Alemanno MS, Bellacchio E, Santarelli R, Carella M, Zelante L, Palladino T, Inches I, di Paola F, Arslan E, Melchionda S. Cama E, et al. Among authors: melchionda s. Int J Pediatr Otorhinolaryngol. 2009 Oct;73(10):1458-63. doi: 10.1016/j.ijporl.2009.06.003. Epub 2009 Jul 16. Int J Pediatr Otorhinolaryngol. 2009. PMID: 19615760

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