Keywords: سندرم نونان; Noonan syndrome; Mutation; Next generation sequencing; Genotype-phenotype correlation; Structural analyses;
مقالات ISI سندرم نونان (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: سندرم نونان; TAA; Thoracic aortic aneurysm; TAAD; Thoracic aortic aneurysm and dissection; AAA; Abdominal aortic aneurysm; BAV; Bicuspid aortic valve; MVD; Mitral valve disease; MVP; Mitral valve prolapse; TV; Tricuspid valve; MFS; Marfan syndrome; LDS; Loeys-Dietz
Keywords: سندرم نونان; Congenital lung malformations; Lipofibroblasts; Neuroendocrine cell hyperplasia; Noonan syndrome; Pediatric interstitial lung disease;
Keywords: سندرم نونان; ALS; acid-labile subunit; CIS; cytokine-inducible SH2-containing protein; E2; estradiol; ER; endoplasmic reticulum; ERK; extracelular regulated kinase; ESPE; European Society for Pediatric Endocrinology; GH; growth hormone; GHBP; growth hormone binding pr
Keywords: سندرم نونان; Childhood stroke; Extracranial-to-intracranial bypass; Moyamoya syndrome; Noonan syndrome; Transient ischemic attacks
Keywords: سندرم نونان; Noonan syndrome; Hearing loss; Transient otoacoustic emissions;
Keywords: سندرم نونان; C/D; cup-to-disc ratio; D; diopters; F; female; IOP; intraocular pressure; LE; left eye; M; male; NR; feature not recorded; NS; Noonan syndrome; NVC; normal visual contact; ONH; optic nerve head; ONHH; optic nerve head hypoplasia; Ras/MAPK; Ras/mitogen-ac
Keywords: سندرم نونان; Noonan syndrome; Spondyloarthritis; Genetic syndrome; ArthritisSíndrome de Noonan; Espondiloartritis; Síndrome genético; Artritis
Keywords: سندرم نونان; Noonan Syndrome; Hearing impairment; Genotype–phenotype correlation; Dysmorphic ear anomalies
Keywords: سندرم نونان; Noonan Syndrome; Functional incontinence; Enuresis; Fecal incontinence; Daytime urinary incontinence; Psychological symptoms;
Keywords: سندرم نونان; CS; Costello syndrome; NS; Noonan syndrome; CFCS; cardiofaciocutaneous syndrome; NF1; neurofibromatosis type 1; DXA; dual-energy X-ray absorptiometry; BMD; bone mineral density; S-BMD; subtotal bone mineral density; WBLH; whole body less head; L-BMD; lumb
Keywords: سندرم نونان; Syndrome; Facies; Malformations; Development; Prader-Willi syndrome; Cornelia de Lange syndrome; Fetal alcohol syndrome; Whistling face syndrome; Noonan syndrome;
Keywords: سندرم نونان; BMI; Body mass index; CDC; Centers for Disease Control and Prevention; CDGP; Constitutional delay of growth and puberty; GH; Growth hormone; GHD; Growth hormone deficiency; HV; Height velocity; IGF-1; Insulin-like growth factor 1; ISS; Idiopathic short st
Keywords: سندرم نونان; Noonan syndrome; LEOPARD syndrome; Lentigines; Giant cell tumor; Giant cell granuloma; Mandible; Maxilla
Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies
Keywords: سندرم نونان; RAS signaling; RASopathies; Noonan syndrome; LEOPARD syndrome; Costello syndrome; Genotype-phenotype correlations; Congenital heart defect; Hypertrophic cardiomyopathy;
Scaffold-based novel SHP2 allosteric inhibitors design using Receptor-Ligand pharmacophore model, virtual screening and molecular dynamics
Keywords: سندرم نونان; SPB; structure based pharmacophore; ADMET; absorption, distribution, metabolism, excretion, and toxicity; TCPTP; T cell protein-tyrosinephosphatase; PTP1B; protein tyrosine phosphatase 1B; NS; Noonan Syndrome; JMML; juvenile myelomonocytic leukemia; AML;
Manejo anestésico en paciente crÃtica con sÃndrome de Noonan
Keywords: سندرم نونان; SÃndrome de Noonan; AnestesiologÃa; Paciente crÃtico; Manejo de vÃa aérea; Hipertermia maligna; Noonan syndrome; Anesthesiology; Critical patient; Airway management; Malignant hyperthermia;
Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11
Keywords: سندرم نونان; Cochlear implantation; Noonan syndrome; Noonan syndrome with multiple lentigines; PTPN11;
Tumeurs à cellules granuleuses multiples chez un enfant atteint d'un syndrome de Noonan compliqué de leucémie myélomonocytaire juvénile
Keywords: سندرم نونان; Leucémie myélomonocytaire juvénile; PTPN11; Tumeur à cellules granuleuses; Abrikossoff; Syndrome de Noonan; Ras-MAPK; Granular cell tumour; Juvenile myelomonocytic leukaemia; Noonan syndrome; PTPN11 mutation; Ras-MAPK pathway; Abrikossoff's tumour;
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results
Keywords: سندرم نونان; Noonan syndrome; RASopathies; Congenital heart defect; Children; Hypertrophic cardiomyopathy;
Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death
Keywords: سندرم نونان; Colon stenosis; Left main coronary artery atresia; Noonan syndrome; RIT1; Sudden death;
Case report: Left ventricular noncompaction cardiomyopathy and RASopathies
Keywords: سندرم نونان; Noonan syndrome; RASopathy; Left ventricular noncompaction; Trabeculations; Cardiomyopathy;
ZespóÅ Noonan u noworodka z przeważajÄ
cymi objawami niewydolnoÅci oddechowej oraz kardiomiopatii przerostowej i nadciÅnienia pÅucnego
Keywords: سندرم نونان; zespóÅ Noonan; gen RAF1; kardiomiopatia; nadciÅnienie pÅucne; noworodek; Noonan syndrome; Gene RAF1; Cardiomyopathy; Pulmonary hypertension; Newborn;
Acute lymphoblastic leukemia in the context of RASopathies
Keywords: سندرم نونان; RASopathies; Noonan syndrome; Acute lymphoblastic leukemia; PTPN11; SHP2; SOS1;
Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling
Keywords: سندرم نونان; SHP2/PTPN11; LEOPARD syndrome; Noonan syndrome; Protein tyrosine phosphatase; Parafibromin/CDC73; Wnt signal; SHP2; Src homology 2 domain-containing protein tyrosine phosphatase 2; PTP; Protein tyrosine phosphatase; NS; Noonan syndrome; LS; LEOPARD syndro
RSK3 is required for concentric myocyte hypertrophy in an activated Raf1 model for Noonan syndrome
Keywords: سندرم نونان; Heart failure; Hypertrophy; Noonan Syndrome; Remodeling; Signal transduction;
Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate
Keywords: سندرم نونان; Molecular etiology; MAP kinase signaling pathways; Mutation rate; Noonan syndrome; PTPN11; RAS family; CDC25; cell division cycle 25; CHD; congenital heart defects; CR; conserved region; CRD; cysteine-rich domain; GAP; GTPase activating protein; GDP; guan
Presentación de espondiloartritis periférica en paciente con sÃndrome de Noonan
Keywords: سندرم نونان; SÃndrome de Noonan; Espondiloartritis; SÃndrome genético; Artritis; Noonan syndrome; Spondyloarthritis; Genetic syndrome; Arthritis;
Moyamoya Syndrome in a Patient With Noonan-like Syndrome With Loose Anagen Hair
Keywords: سندرم نونان; Noonan-like syndrome with loose anagen hair; Moyamoya syndrome; Noonan syndrome; SHOC2;
SÃndrome cardiofaciocutáneo, un trastorno relacionado con el sÃndrome de Noonan: hallazgos clÃnicos y moleculares en 11 pacientes
Keywords: سندرم نونان; SÃndrome de Noonan; SÃndrome cardiofaciocutáneo; SÃndrome LEOPARD; Estenosis pulmonar valvular; MiocardiopatÃa hipertrófica; VÃa RAS-MAPK; RasopatÃa; PTPN11; BRAF; MAP2K1; Correlación genotipo-fenotipo; Noonan syndrome; Cardiofaciocutaneous syndr
Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients
Keywords: سندرم نونان; Noonan syndrome; Cardiofaciocutaneous syndrome; LEOPARD syndrome; Pulmonary valve stenosis; Hypertrophic cardiomyopathy; RAS-MAPK pathway; Rasopathy; PTPN11; BRAF; MAP2K1; Genotype–phenotype correlationSíndrome de Noonan; Síndrome cardiofaciocutáneo; Sínd
RASopathies et cancers de l'enfant
Keywords: سندرم نونان; RASopathie; Cancer; Syndrome de Noonan; Leucémie myélomonocytaire juvénile; Oncologie pédiatrique; RASopathies; Cancer; Noonan syndrome; Juvenile myelomonocytic leukemia; Pediatric oncology;
SHP2 sails from physiology to pathology
Keywords: سندرم نونان; Noonan syndrome; Noonan syndrome with multiple lentigines; PTPN11; Shp2; Signaling; Functional genetics
Bilateral giant coronary aneurysms in a 40-year-old male with Noonan syndrome caused by a KRAS germline mutation
Keywords: سندرم نونان; Noonan syndrome; Coronary aneurysm; KRAS germline mutation;
Protein tyrosine phosphatase SHP2/PTPN11 mistargeting as a consequence of SH2-domain point mutations associated with Noonan Syndrome and leukemia
Keywords: سندرم نونان; dFCS; dialyzed fetal calf serum; GO; Gene Ontology; IPI; International Protein Index; LTQ; linear trap quadrupole; SILAC; stable isotope labeling by amino acids in cell culture; Arg6; l-arginine-13C6,14N4; Arg10; l-arginine-13C6,15N4; Lys4; l-lysine-2H4;
Anesthetic implications of emergent Cesarean section in a parturient with Noonan syndrome and bacterial endocarditis ★
Keywords: سندرم نونان; Anesthesia, obstetrical; Endocarditis; Cardiomyopathy, hypertrophic; Cesarean section; Noonan syndrome; Placental abruption
Pathologies énigmatiques des lymphatiques comportant une atteinte pulmonaire
Keywords: سندرم نونان; Syndrome de Milroy; Syndrome lymphÅdème-distichiasis; Syndrome de Hennekam; Syndrome de Noonan; Syndrome de Gorham-Stout; Syndrome des ongles jaunes; Milroy syndrome; Hennekam syndrome; Noonan syndrome; Gorham-Stout syndrome; Yellow nail syndrome;
Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome
Keywords: سندرم نونان; Egyptian patients; mutational analysis; Noonan syndrome; PTPN11; SHP-2
Bleeding diathesis in Noonan syndrome: Is acquired von Willebrand syndrome the clue?
Keywords: سندرم نونان; Noonan syndrome; PTPN11 gene; pulmonary stenosis; bleeding diathesis; acquired von Willebrand syndrome
Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia
Keywords: سندرم نونان; CBL; Acute lymphoblastic leukemia; Noonan syndrome; RAS; NOTCH;
Update on Turner and Noonan Syndromes
Keywords: سندرم نونان; Turner syndrome; Noonan syndrome; Growth; Recombinant human growth hormone; Estrogen therapy;
Spectrum of Mutations in Noonan Syndrome and Their Correlation with Phenotypes
Keywords: سندرم نونان; CFC; Cardiofaciocutaneous syndrome; CR2; Converted region 2; CS; Costello syndrome; EGF; Epidermal growth factor; HF; Histone-like folds; LS; LEOPARD syndrome; MAPK; Mitogen-activated protein kinase; NS; Noonan syndrome;
The benefits of growth hormone therapy in patients with Turner syndrome, Noonan syndrome and children born small for gestational age
Keywords: سندرم نونان; Growth hormone; Subcutaneous injection; Turner syndrome; Noonan syndrome; Short children born small for gestational age; Adherence
Syndromes neuro-cardio-facio-cutanés
Keywords: سندرم نونان; Syndrome de Noonan; Syndrome Costello et syndrome Legius; Neurofibromatose type 1; Syndrome de Watson; Syndrome cardio-facio-cutané; Voie RAS/MAPKinases; Noonan syndrome; Costello syndrome; Legius syndrome; Neurofibromatosis type 1; Watson syndrome; Card
Noonan syndrome and clinically related disorders
Keywords: سندرم نونان; Noonan syndrome; LEOPARD syndrome; Noonan-like syndrome with loose anagen hair; CBL mutation-associated syndrome; RAS signaling; pathogenetic mechanisms; diagnosis; patient management; genotype-phenotype correlations
Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis
Keywords: سندرم نونان; MLPA; Noonan syndrome; Mutation; RAS-MAPK; Duplication; Deletion
Mitochondrial DNA haplogroup ‘R’ is associated with Noonan syndrome of South India
Keywords: سندرم نونان; Noonan syndrome; Congenital heart disease; mtDNA; Haplogroup; PTPN11
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence
Keywords: سندرم نونان; Noonan syndrome; LEOPARD syndrome; Cardio-facio-cutaneous syndrome; Mitogen-activated protein kinases; BRAF
Bilateral cochlear implantation in children with Noonan syndrome
Keywords: سندرم نونان; Noonan syndrome; Cochlear implant; Hearing disorder; Deafness; Inherited disorder
The search of ‘novel’ mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor
Keywords: سندرم نونان; Hypertrophic cardiomyopathy; Noonan syndrome; Mitochondrial DNA mutation; Haplogroup; MITOMAP