Panza E - Search Results

1

Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.

Dugan SL, Panza E, Openshaw A, Botto LD, Camacho JA, Toydemir RM. Dugan SL, et al. Among authors: panza e. Am J Med Genet A. 2018 Dec;176(12):2901-2906. doi: 10.1002/ajmg.a.40664. Epub 2018 Oct 22. Am J Med Genet A. 2018. PMID: 30346094

2

Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms.

Martinello C, Panza E, Orlacchio A. Martinello C, et al. Among authors: panza e. Expert Rev Proteomics. 2023 Jul-Dec;20(7-9):171-188. doi: 10.1080/14789450.2023.2260952. Epub 2023 Oct 16. Expert Rev Proteomics. 2023. PMID: 37788157 Review.

3

Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.

Toydemir RM, Panza E, Longhurst MC, South ST, Rope AF. Toydemir RM, et al. Among authors: panza e. Mol Syndromol. 2020 Jul;11(3):125-129. doi: 10.1159/000507598. Epub 2020 Apr 10. Mol Syndromol. 2020. PMID: 32903844 Free PMC article.

4

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24.

Deglincerti A, De Giorgio R, Cefle K, Devoto M, Pippucci T, Castegnaro G, Panza E, Barbara G, Cogliandro RF, Mungan Z, Palanduz S, Corinaldesi R, Romeo G, Seri M, Stanghellini V. Deglincerti A, et al. Among authors: panza e. Eur J Hum Genet. 2007 Aug;15(8):889-97. doi: 10.1038/sj.ejhg.5201844. Epub 2007 May 9. Eur J Hum Genet. 2007. PMID: 17487221

5

The clear cell sarcoma functional genomic landscape.

Panza E, Ozenberger BB, Straessler KM, Barrott JJ, Li L, Wang Y, Xie M, Boulet A, Titen SW, Mason CC, Lazar AJ, Ding L, Capecchi MR, Jones KB. Panza E, et al. J Clin Invest. 2021 Aug 2;131(15):e146301. doi: 10.1172/JCI146301. J Clin Invest. 2021. PMID: 34156976 Free PMC article.

6

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.

Ferrero GB, Baldassarre G, Panza E, Valenzise M, Pippucci T, Mussa A, Pepe E, Seri M, Silengo MC. Ferrero GB, et al. Among authors: panza e. Eur J Pediatr. 2010 Feb;169(2):223-8. doi: 10.1007/s00431-009-1011-3. Epub 2009 Jun 18. Eur J Pediatr. 2010. PMID: 19536562

7

Genetics of human enteric neuropathies.

Panza E, Knowles CH, Graziano C, Thapar N, Burns AJ, Seri M, Stanghellini V, De Giorgio R. Panza E, et al. Prog Neurobiol. 2012 Feb;96(2):176-89. doi: 10.1016/j.pneurobio.2012.01.001. Epub 2012 Jan 14. Prog Neurobiol. 2012. PMID: 22266104 Review.

8

The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.

Panza E, Gimelli G, Passalacqua M, Cohen A, Gimelli S, Giglio S, Ghezzi C, Sparatore B, Heye B, Zuffardi O, Rugarli E, Meitinger T, Romeo G, Ravazzolo R, Seri M. Panza E, et al. Int J Mol Med. 2007 Mar;19(3):429-35. Int J Mol Med. 2007. PMID: 17273791

9

Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p.

Longo L, Panza E, Schena F, Seri M, Devoto M, Romeo G, Bini C, Pappalardo G, Tonini GP, Perri P. Longo L, et al. Among authors: panza e. Hum Hered. 2007;63(3-4):205-11. doi: 10.1159/000099997. Epub 2007 Feb 22. Hum Hered. 2007. PMID: 17317969

10

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, Gresele P, Lethagen S, Fabris F, Dufour C, Granata A, Doubek M, Pecoraro C, Koivisto PA, Heller PG, Iolascon A, Alvisi P, Schwabe D, De Candia E, Rocca B, Russo U, Ramenghi U, Noris P, Seri M, Balduini CL, Savoia A. Pecci A, et al. Among authors: panza e. Hum Mutat. 2008 Mar;29(3):409-17. doi: 10.1002/humu.20661. Hum Mutat. 2008. PMID: 18059020

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