Lista de obras - Emanuele Panza - Dominio Público Uruguay

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.

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2007

Genetics of human enteric neuropathies.

artículo científico

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

artículo científico publicado en 2010

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

artículo científico publicado en 2003

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

artículo científico publicado en 2011

New perspectives in the diagnosis and management of enteric neuropathies.