List of works - Pietro Palumbo - Paulina

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List of works by Pietro Palumbo

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TBR1is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion

article

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

scientific article

A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.

scientific article

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

scientific article published on 18 September 2014

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

article

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

scientific article published on 5 November 2014

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation

scientific article

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

scientific article published on 20 December 2017

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

scientific article published on 20 February 2019

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus

scientific article published on 27 March 2019

Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion

scientific article published on 6 December 2017

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features

scientific article published on 26 June 2020