Results 21 to 30 of about 3,804 (178)

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

Noonan syndrome – a new survey

Archives of Medical Science, 2016
Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart ...
Alireza Tafazoli, Peyman Eshraghi, Zahra Kamel Koleti, Mohammadreza Abbaszadegan   +3 more
doaj   +2 more sources

LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review [PDF]

ESC Heart Failure
Yingwen Zhou, Kai Yang, Kai Ma, Minjie Lu   +3 more
doaj   +2 more sources

LEOPARD syndrome [PDF]

Kardiologiia, 2020
LEOPARD syndrome with multiple lentigines (cardiomyopathic lentiginosis) is a rare, genetically predetermined disease with autosomal dominant inheritance. Prevalence of this syndrome is unknown. One of pathognomonic clinical manifestations of this syndrome is the presence of multiple lentiginous pigment spots all over the body.
S A, Gabrusenko, M A, Saidova, O V, Stukalova, Kh M, Dzaurova, N V, Meladze   +4 more
openaire   +4 more sources

Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children

The Turkish Journal of Pediatrics, 2011
. LEOPARD syndrome 2 (LS-2) (OMIM #611554) is a rare, dominantly inherited genetic disorder affecting multiple organ systems. We report two unrelated females of different ages whose phenotype fits best in the category of LEOPARD syndrome, both ...
Vladimir Kuburović, Vladislav Vukomanović, Atilano Carcavilla, Begona Ezquieta-Zubicaray, Nina Kuburović   +4 more
doaj   +2 more sources

Structural and Mechanistic Insights into LEOPARD Syndrome-Associated SHP2 Mutations [PDF]

Journal of Biological Chemistry, 2013
Zhi-Hong Yu, Sijiu Liu, Zhong-Yin Zhang   +2 more
exaly   +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]

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

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

LEOPARD syndrome with rare skeletal anomalies: A case report

Indian Journal of Dermatology, 2013
Sonali Kohli, Yugal K Sharma, Kedar N Dash, Radhika Kopikar, Nitin C Chaudhari   +4 more
doaj   +2 more sources