Pietro Palumbo

Pietro Palumbo

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Pietro Palumbo

Pietro Palumbo

Publications by authors named "Pietro Palumbo"

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Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Na 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role.

J Electrocardiol 2018 Sep - Oct;51(5):809-813. Epub 2018 Jun 9.

Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", IRCCS Casa Sollievo della Sofferenza, Viale Padre Pio, 71013 San Giovanni Rotondo, FG, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00220736183029
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http://dx.doi.org/10.1016/j.jelectrocard.2018.06.005DOI Listing
October 2019

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

Mol Genet Genomic Med 2019 Sep 25;7(9):e855. Epub 2019 Jul 25.

Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.

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http://dx.doi.org/10.1002/mgg3.855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732270PMC
September 2019

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.

Eur J Hum Genet 2019 Jul 20;27(7):1113-1120. Epub 2019 Feb 20.

Fondazione IRCCS Casa Sollievo della Sofferenza, Division of Medical Genetics, San Giovanni Rotondo, FG, Italy.

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http://dx.doi.org/10.1038/s41431-019-0350-4DOI Listing
July 2019

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.

Eur J Med Genet 2018 May 20;61(5):248-252. Epub 2017 Dec 20.

Division of Medical Genetics, Poliambulatorio "Giovanni Paolo II", IRCCS Casa Sollievo della Sofferenza, Viale Padre Pio, 71013 San Giovanni Rotondo, FG, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.12.008DOI Listing
May 2018

Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.

Am J Med Genet A 2018 02 28;176(2):391-398. Epub 2017 Nov 28.

Divisionof Medical Genetics, Poliambulatorio "Giovanni Paolo II," IRCCSCasa Sollievo della Sofferenza, Viale Padre Pio, San Giovanni Rotondo FG, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38559DOI Listing
February 2018

The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants.

Seizure 2017 Dec 14;53:86-93. Epub 2017 Nov 14.

Medical Genetics Units, IRCCS "Casa Sollievo della Sofferenza", San Giovanni Rotondo, Foggia, Italy.

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http://dx.doi.org/10.1016/j.seizure.2017.11.009DOI Listing
December 2017

Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.

Am J Med Genet A 2017 Jul 13;173(7):1922-1930. Epub 2017 Apr 13.

U.O.C. Malattie Metaboliche Genetica Medica, PO Giovanni XXIII, A.O.U. Policlinico Consorziale, Bari, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38253DOI Listing
July 2017

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

Mol Cell Probes 2017 06 3;33:24-27. Epub 2017 Mar 3.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.mcp.2017.03.001DOI Listing
June 2017

Clinical and molecular characterization of a de novo 19p13.3 microdeletion.

Mol Cytogenet 2016 27;9:40. Epub 2016 May 27.

Laboratorio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1186/s13039-016-0252-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4882821PMC
May 2016

Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay.

Am J Med Genet A 2015 Sep 21;167A(9):2219-22. Epub 2015 May 21.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1002/ajmg.a.37142DOI Listing
September 2015

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes.

Mol Cytogenet 2015 16;8:66. Epub 2015 Aug 16.

Laboratorio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, (FG) Italy.

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http://dx.doi.org/10.1186/s13039-015-0170-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537544PMC
August 2015

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability.

Genet Med 2015 May 18;17(5):396-9. Epub 2014 Sep 18.

1] Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy [2] Institute for Maternal and Child Health, IRCCS "Burlo Garofolo," Trieste, Italy.

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http://dx.doi.org/10.1038/gim.2014.118DOI Listing
May 2015

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

Am J Med Genet A 2015 Feb 26;167A(2):438-44. Epub 2014 Nov 26.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1002/ajmg.a.36872DOI Listing
February 2015

Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case.

Gene 2014 Apr 29;538(2):373-8. Epub 2014 Jan 29.

Dipartimento di Scienze per la Promozione della Salute e Materno Infantile "G. D'ALESSANDRO", Universita' Degli Studi di Palermo, Palermo, Italy.

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http://dx.doi.org/10.1016/j.gene.2014.01.050DOI Listing
April 2014

TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

Am J Med Genet A 2014 Mar 23;164A(3):828-33. Epub 2014 Jan 23.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, (FG), Italy.

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http://dx.doi.org/10.1002/ajmg.a.36363DOI Listing
March 2014

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.

Gene 2013 Jan 7;513(1):209-13. Epub 2012 Nov 7.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1016/j.gene.2012.09.132DOI Listing
January 2013

Recurrence and progression in non-muscle-invasive bladder cancer using EORTC risk tables.

Urol Int 2012 19;89(1):61-6. Epub 2012 Jun 19.

Department of Urology, Chair and School of Urology, University of Chieti, Chieti, Italy. vmaltieri @ alice.it

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http://dx.doi.org/10.1159/000336516DOI Listing
December 2012

An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review.

Am J Med Genet A 2012 Dec 19;158A(12):3182-9. Epub 2012 Nov 19.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.

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http://dx.doi.org/10.1002/ajmg.a.35631DOI Listing
December 2012