Disease: LEOPARD syndrome- 2
- A multifunctional cross-validation high-throughput screening protocol enabling the discovery of new SHP2 inhibitors
- A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines
- A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype
- Activation of Autophagy Ameliorates Cardiomyopathy in <em>Mybpc3</em>-Targeted Knockin Mice
- Allosteric Inhibitors of SHP2: An Updated Patent Review (2015-2020)
- An incomplete LEOPARD syndrome presented with generalized lentigines
- Anomalous Origin of the Left Main Artery from Right Coronary Sinus with a Prepulmonic Course
- Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway
- Atypical left-ventricular hypertrophy with apical aneurysm in leopard syndrome
- Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes
- Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan
- Cardiac Myxoma in a Patient With Hypertrophic Cardiomyopathy
- Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients
- Case report: Clinical manifestations and genotype analysis of a child with <em>PTPN11</em> and <em>SEC24D</em> mutations
- Case Report: Left ventricular apical hypertrophy in a patient with Leopard syndrome mimicking a cardiac tumor: a diagnostic challenge resolved by multimodality imaging
- Case report: Noonan syndrome with multiple giant cell lesions and review of the literature
- Clinical and molecular analysis of RASopathies in a group of Turkish patients
- Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies
- CLOUDED LEOPARD (<em>NEOFELIS NEBULOSA</em>) MORBIDITY AND MORTALITY IN CAPTIVE-BRED POPULATIONS: A COMPREHENSIVE RETROSPECTIVE STUDY OF MEDICAL DATA FROM 271 INDIVIDUALS IN EUROPEAN, ASIAN, AND AUSTRALIAN ZOOS
- CLOUDED LEOPARD (NEOFELIS NEBULOSA) MORBIDITY AND MORTALITY IN CAPTIVE-BRED POPULATIONS: A COMPREHENSIVE RETROSPECTIVE STUDY OF MEDICAL DATA FROM 271 INDIVIDUALS IN EUROPEAN, ASIAN, AND AUSTRALIAN ZOOS
- Cochlear implantation in LEOPARD syndrome: Our experience with three patients
- Comparison of biometric and structural ocular manifestations of Marfan syndrome in twins
- Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes
- Delayed primary diagnosis of LEOPARD syndrome type 1
- Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice
- Design, synthesis, biological evaluation, common feature pharmacophore model and molecular dynamics simulation studies of ethyl 4-(phenoxymethyl)-2-phenylthiazole-5-carboxylate as Src homology-2 domain containing protein tyrosine phosphatase-2 (SHP2) inhi
- Detection of SARS-CoV-2 clade B.1.2 in three snow leopards
- Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations
- Diagnosis and treatment of uveal effusion syndrome: a case series and literature review
- Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines
- Endocrine system involvement in patients with RASopathies: A case series
- Erratum: LEOPARD syndrome and multiple granular cell tumors: An underreported association?
- From molecules to behavior: lessons from the study of rare genetic disorders
- Functions of Shp2 in cancer
- Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong
- Genotype-phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines
- Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?
- Giraffe or leopard spot chorioretinopathy as an outstanding finding: case report and literature review
- GLOBAL RETROSPECTIVE REVIEW OF SEVERE ACUTE RESPIRATORY SYNDROME SARS COV-2 INFECTIONS IN NONDOMESTIC FELIDS: MARCH 2020-FEBRUARY 2021
- Images of the month 2: A leopard never changes its spots
- Importance of cardiovascular examination in patients with multiple lentigines: two cases of LEOPARD syndrome with hypertrophic cardiomyopathy
- In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy
- Increased Risk of Infection with Severe Fever with Thrombocytopenia Virus among Animal Populations on Tsushima Island, Japan, Including an Endangered Species, Tsushima Leopard Cats
- Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes
- Introduction to phacomatoses (neurocutaneous disorders) in childhood
- Investigating the reason for loss-of-function of Src homology 2 domain-containing protein tyrosine phosphatase 2 (SHP2) caused by Y279C mutation through molecular dynamics simulation
- Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?
- Juvenile Patient with LEOPARD Syndrome: Clinical Profile of a Genetically Confirmed Case
- LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene
- LEOPARD syndrome with accelerated idioventricular rhythm and systolic anterior motion of the posterior mitral leaflet: a case report
- LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD
- LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases
- LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity
- LEOPARD Syndrome: Clinical Features and Gene Mutations
- LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3beta/beta-catenin signaling
- LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling
- Low-dose Dasatinib Ameliorates Hypertrophic Cardiomyopathy in Noonan Syndrome with Multiple Lentigines
- Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome
- Modeling inherited cardiac disorders
- Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations
- mTOR pathway in human cardiac hypertrophy caused by LEOPARD syndrome: a different role compared with animal models?
- Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome
- Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines
- Neonatal atrial tachycardia: suggestive clinical sign of Costello syndrome
- Neural Crest
- Noncanonical crRNAs derived from host transcripts enable multiplexable RNA detection by Cas9
- Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish
- Novel Homozygous <em>ADAMTS2</em> Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome
- Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome
- OPTIC DISK COLOBOMA AND CONTRALATERAL OPTIC DISK PIT MACULOPATHY TREATED BY VITRECTOMY IN A PATIENT WITH NOONAN SYNDROME WITH MULTIPLE LENTIGINES
- Orthopaedic conditions in Ras/MAPK related disorders
- P<sub>0</sub>-Related Protein Accelerates Human Mesenchymal Stromal Cell Migration by Modulating VLA-5 Interactions with Fibronectin
- Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines
- Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation
- Peripheral blood cells from children with RASopathies show enhanced spontaneous colonies growth in vitro and hyperactive RAS signaling
- Protein Tyrosine Phosphatase SHP-2 (PTPN11) in Hematopoiesis and Leukemogenesis
- Protein tyrosine phosphatases as novel targets in breast cancer therapy
- PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
- Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation
- RASopathies and cardiac manifestations
- Regulation of bone and skeletal development by the SHP-2 protein tyrosine phosphatase
- Retrolental Bullous Retinal Detachment as the Presenting Feature of Vogt-Koyanagi-Harada Disease in an Elderly Indian Female: Diagnostic and Therapeutic Challenge
- Reverse zoonosis of coronavirus disease-19: Present status and the control by one health approach
- SARS-CoV-2 vaccine for domestic and captive animals: An effort to counter COVID-19 pandemic at the human-animal interface
- SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton
- SHP-2 regulates growth factor dependent vascular signalling and function
- Spatial epidemiology and genetic diversity of SARS-CoV-2 and related coronaviruses in domestic and wild animals
- Spectrum of mutations in Noonan syndrome and their correlation with phenotypes
- Structure, function, and pathogenesis of SHP2 in developmental disorders and tumorigenesis
- Swimmer syndrome in a clouded leopard (Neofelis nebulosa) cub
- Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome
- Targeted deletion of ERK2 in cardiomyocytes attenuates hypertrophic response but provokes pathological stress induced cardiac dysfunction
- The Biological Function of SHP2 in Human Disease
- The case of 17-year-old male with LEOPARD syndrome
- The inflammatory response after laparoscopic and open pancreatoduodenectomy and the association with complications in a multicenter randomized controlled trial
- Therapeutic potential of targeting SHP2 in human developmental disorders and cancers
- Treatment of Facial Lentigines in an Adult Female Patient Suspected with Leopard Overlap Noonan Syndrome
- Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children
- Two novel germline KRAS mutations: expanding the molecular and clinical phenotype
- Xeroderma pigmentosum