Luigi Bisceglia

San Giovanni Rotondo, 71013, Italy

Last Updated: 09/26/2026

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Found 24 publications

Rare AFG3L2 and POLG Variants Suggest a Role for Mitochondrial Dysfunction in Enteric Neuronal Vulnerability in Idiopathic Achalasia.

Rare AFG3L2 and POLG Variants Suggest a Role for Mitochondrial Dysfunction in Enteric Neuronal Vulnerability in Idiopathic Achalasia.

Journal: International journal of molecular sciences

Published: June 16, 2026

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: More frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 01, 2025

Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.

Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.

Journal: American journal of medical genetics. Part A

Published: June 05, 2025

Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder.

Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder.

Journal: Journal of human genetics

Published: September 28, 2023

A novel mutation in the fibrinogen γ-chain gene c.952G>T, p. (Gly318Cys) leading to hypo dysfibrinogenemia.

A novel mutation in the fibrinogen γ-chain gene c.952G>T, p. (Gly318Cys) leading to hypo dysfibrinogenemia.

Journal: Thrombosis research

Published: September 26, 2023

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.

Journal: Clinical genetics

Published: February 03, 2022

Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.

Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene.

Journal: Pediatric research

Published: January 26, 2022

Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.

Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.

Journal: Human molecular genetics

Published: July 17, 2020

Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.

Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.

Journal: Genes

Published: February 24, 2020

Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes.

Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes.

Journal: European journal of human genetics : EJHG

Published: August 06, 2019

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.

Journal: BMC research notes

Published: September 28, 2018

Showing 1-12 of 24

Last Updated: 09/26/2026