Results 91 to 100 of about 3,804 (178)

Familial Aggregation of Genetically Heterogeneous Hypertrophic Cardiomyopathy. A Boy with LEOPARD Syndrome due to PTPN11 Mutation and His Nonsyndromic Father Lacking PTPN11 Mutations

, 2004
BACKGROUND: Nonsyndromic hypertrophic cardiomyopathy (HCM) is a primary cardiac disease transmitted as an autosomal dominant trait. Multiple chromosomal loci have been found to be involved in the etiology of this defect.
PIZZUTI A, CERRATO F, DIGILIO MC, SARKOZY A, LIMONGELLI G, PACILEO G, MARINO B, DALLAPICCOLA B, CALABRO R, CONTI E   +9 more
core   +1 more source

Leopard Syndrome: Clinical presentation, molecular analysis and genotypo-phenotypo correlation

, 2006
Leopard Syndrome is a extremely rare disease, autosomal dominant, characterized from a series of systemich anomalies (cutaneous, facial, genital etc), between which the cardiovascular anomalies they assume a relief rolesure, "Leopard" is an acronym that ...
Cesare G., Limongelli G., Russo G., Calabro R., Pacileo G., Miele T., Verrengia M., Ancona R.   +7 more
core  

Age-related retinal degeneration resulting from the deletion of Shp2 tyrosine phosphatase in photoreceptor neurons

Cell Death and Disease
Shp2, a critical SH2-domain-containing tyrosine phosphatase, is essential for cellular regulation and implicated in metabolic disruptions, obesity, diabetes, Noonan syndrome, LEOPARD syndrome, and cancers.
Ammaji Rajala, Rahul Rajala, Mohd A. Bhat, Mark Eminhizer, Jeff Hao, Jianhai Du, Raju V. S. Rajala   +6 more
doaj   +1 more source

LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes. [PDF]

J Pediatr Genet, 2020
Alfurayh N, Alsaif F, Alballa N, Zeitouni L, Ramzan K, Imtiaz F, Alakeel A.   +6 more
europepmc   +1 more source

PTPN11 gene mutations: Linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype"

, 2006
We describe the "LEOPARD syndrome (LS) phenotype" associated with the Gln510Glu mutation of the PTPN11 gene in two patients presenting with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy and structural abnormalities of ...
Sarkozy A., Limongelli G., Pacileo G., Marino B., Digilio M. C., Dallapiccola B.   +5 more
core   +1 more source

An uncommon association between skin lesions and LEOPARD Syndrome affected an old patient. Case report

, 2011
LEOPARD syndrome (LS) is a rare inherited autosomal dominant disease with high penetrance and markedly variable expression characterized by a spectrum of somatic abnormalities.
CARELLA, SARA, SPINELLI, GRAZIANO, MIRAGLIA, EMANUELE, ONESTI, Maria Giuseppina, GIUSTINI, Sandra, FIORAMONTI, Paolo, FINO, PASQUALE   +6 more
core  

Leopard syndrome.

Singapore medical journal, 2001
The Leopard syndrome is a complex of multisystemic congenital abnormalities characterised by lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth and deafness (sensorineural).
K L, Tong, Z P, Ding, T, Chua
openaire   +1 more source

Síndrome de LEOPARD : caso clínico

, 2015
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2015A síndrome de LEOPARD (LS, OMIM 151100) é uma doença genética autossómica dominante, causada maioritariamente pela mutação no gene PTPN11, com ...
Martins, Carolina José Fernandes
core   +1 more source

Giant coronary artery aneurysm in a patient with LEOPARD syndrome. [PDF]

Eur Heart J Case Rep, 2019
Bourgain M, Iriart X, Thambo JB, Cochet H.   +3 more
europepmc   +1 more source

A Rare Case of Left Ventricular Noncompaction in LEOPARD Syndrome. [PDF]

J Cardiovasc Ultrasound, 2018
Kim K, Kang MG, Park HW, Koh JS, Park JR, Hwang SJ, Hwang JY.   +6 more
europepmc   +1 more source