Results 21 to 30 of about 2,445,354 (228)

Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome. [PDF]

PLoS ONE, 2014
Noonan syndrome (NS) and LEOPARD syndrome (LS) cause congenital afflictions such as short stature, hypertelorism and heart defects. More than 50% of NS and almost all of LS cases are caused by activating and inactivating mutations of the phosphatase Shp2,
Jeroen Paardekooper Overman, Christian Preisinger, Karin Prummel, Monica Bonetti, Piero Giansanti, Albert Heck, Jeroen den Hertog   +6 more
doaj   +2 more sources

Treatment of Facial Lentigines in an Adult Female Patient Suspected with Leopard Overlap Noonan Syndrome

International Medical Case Reports Journal, 2023
Kartika Ruchiatan, Noer Olivy Alifiar, Diah Puspitosari, Reti Hindritiani Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran - Dr.
Ruchiatan K, Alifiar NO, Puspitosari D, Hindritiani R   +3 more
doaj   +2 more sources

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

J Pediatr Genet, 2020
LEOPARD syndrome (LS) is a rare autosomal dominant disorder that is characterized by multiple lentigines and various congenital anomalies. The clinical diagnosis of LS requires molecular confirmation. The most frequently reported mutations in LS patients
Alfurayh N, Alsaif F, Alballa N, Zeitouni L, Ramzan K, Imtiaz F, Alakeel A.   +6 more
europepmc   +2 more sources

<i>Bandavirus dabieense</i> Isolated From a Wild Leopard Cat (<i>Prionailurus bengalensis euptilura</i>) in the Republic of Korea. [PDF]

Transbound Emerg Dis
Bandavirus dabieense severe fever with thrombocytopenia syndrome virus (SFTSV) is an emerging tick‐borne zoonotic virus that causes severe febrile illness and high fatality rates in people. SFTSV is endemic to East Asia, notably in the Republic of Korea (ROK), Japan, and China.
Byun HR, Chae SJ, Ji SR, Shin HS, Kang JG, Jeong H, Lee S, Chae JS.   +7 more
europepmc   +2 more sources

LEOPARD Syndrome [PDF]

Dermatology Online Journal, 2015
LEOPARD syndrome (LS) is an autosomal dominantly inherited or sporadic disorder of variable penetrance and expressivity. The acronym LEOPARD stands for its cardinal clinical features including Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and ...
Ghosh, Sudip Kumar, Majumdar, Biswajit, Rudra, Olympia, Chakraborty, Sougat   +3 more
openaire   +4 more sources

‘Leopard’ syndrome [PDF]

Anaesthesia, 1990
Summary ‘Leopard’ syndrome is a rare inherited disorder associated with a high prevalence of cardiac abnormalities. General anaesthesia for dental treatment in a patient who had cardiomyopathy and bizarre electrocardiographs abnormalities associated with this syndrome is described. A thorough cardiac assessment is advised in a patient
M R, Rodrigo, C H, Cheng, Y T, Tai, D, O'Donnell   +3 more
openaire   +2 more sources

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

Eur Heart J Case Rep, 2019
VC The Author(s) 2019. Published by Oxford University Press on behalf of the European Society of Cardiology. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/
Bourgain M, Iriart X, Thambo JB, Cochet H.   +3 more
europepmc   +2 more sources

Case Report: Fortuitous discovery of a white matter signal abnormality in the context of Leopard syndrome

The Journal of medical research, 2022
Multiple Lentigines syndrome is an autosomal dominant inherited disorder of variable expressivity also known by the acronym LEOPARD syndrome. A rare disease with multiple congenital anomalies, mainly characterized by skin, facial and cardiac anomalies ...
J. N. Mapaga, Mikel J. Martínez, P. K. Ndouongo   +2 more
semanticscholar   +1 more source

Increased Risk of Infection with Severe Fever with Thrombocytopenia Virus among Animal Populations on Tsushima Island, Japan, Including an Endangered Species, Tsushima Leopard Cats

Viruses, 2022
To investigate the seroprevalence of severe fever with thrombocytopenia syndrome (SFTS) among wild and companion animals on Tsushima Island, Japan, SFTS virus (SFTSV)-specific ELISA and virus-neutralizing tests were conducted on 50 wild boars, 71 Sika ...
Aya Matsuu, Kandai Doi, Keita Ishijima, Kango Tatemoto, Yushi Koshida, Ayako Yoshida, Kohei Kiname, Akio Iwashita, Shin-ichi Hayama, Ken Maeda   +9 more
doaj   +1 more source

Melanoma in Noonan Syndrome With Multiple Lentigines (Leopard Syndrome): A New Case.

Actas Dermo-Sifiliográficas, 2020
Noonan syndrome with multiple lentigines (NSML), also known as LEOPARD syndrome, is a rare genetic skin disease whose acronym comes from its main clinical manifestations: lentigines (multiple), electrocardiographic conduction abnormalities, ocular ...
M. Fernando García-Gil, M. Álvarez-Salafranca, A. Valero-Torres, M. Ara‐Martín   +3 more
semanticscholar   +2 more sources