List of works - Emanuele Panza

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations

scientific article published on 04 December 2009

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.

scientific article published on 18 June 2009

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

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

scientific journal article

Application of a fluorescent PCR method for molecular diagnosis of posttransplant lymphoproliferative disorders on routine tissue sections.

scientific article

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

scientific article published on 24 June 2009

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

article

Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone

scientific article published on 26 February 2020

Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p

scientific article published on 22 February 2007

Genetics of human enteric neuropathies.

scientific article published on 14 January 2012

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

scientific article

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

scientific article

MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells

scientific article

New perspectives in the diagnosis and management of enteric neuropathies.

scientific article published on 12 February 2013

P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9

scientific article published on 19 July 2019

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

scientific article

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

article

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.

scientific article published in March 2007

List of works by Emanuele Panza

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations

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.

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

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Application of a fluorescent PCR method for molecular diagnosis of posttransplant lymphoproliferative disorders on routine tissue sections.

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

Benign albeit glycolytic: MCT4 expression and lactate release in giant cell tumour of bone

Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p

Genetics of human enteric neuropathies.

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells

New perspectives in the diagnosis and management of enteric neuropathies.

P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9

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

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

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.