Works matching DE "NOONAN syndrome"
Results: 541
Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.
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- Pediatric Cardiology, 2016, v. 37, n. 8, p. 1539, doi. 10.1007/s00246-016-1468-6
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- Article
Noonan Syndrome and Different Morphologic Expressions of Hypertrophic Cardiomyopathy.
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- 2013
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- Case Study
From Stem to Sternum: The Role of Shp2 in the Skeleton.
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- Calcified Tissue International, 2023, v. 112, n. 4, p. 403, doi. 10.1007/s00223-022-01042-3
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- Article
Neurosurgical aspects of Noonan syndrome.
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- Child's Nervous System, 2023, v. 39, n. 4, p. 849, doi. 10.1007/s00381-023-05888-2
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MRI and MR neurography features of a patient with Noonan syndrome associated with diffuse thickening of peripheral and cranial nerves.
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- 2022
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- Case Study
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome.
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- 2021
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- Case Study
Noonan Syndrome and its Ophthalmic Implications: Insights from a Pediatric Case.
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- Türkiye Klinikleri Journal of Case Reports, 2024, v. 32, n. 2, p. 36, doi. 10.5336/caserep.2023-100613
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- Article
The first PTPN11 mutations in hotspot exons reported in Moroccan children with Noonan syndrome and comparison of mutation rate to previous studies.
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- Turkish Journal of Medical Sciences, 2015, v. 45, n. 2, p. 306, doi. 10.3906/sag-1310-50
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- Article
Proteomic analysis of salivary inflammatory biomarkers of developmental gingival enlargements in patients with West and Noonan syndromes: a preliminary pilot single-center retrospective study.
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- European Review for Medical & Pharmacological Sciences, 2023, v. 27, n. 22, p. 11093
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- Article
The Raf/LIN-45 C-terminal distal tail segment negatively regulates signaling in Caenorhabditis elegans.
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- Genetics, 2024, v. 228, n. 3, p. 1, doi. 10.1093/genetics/iyae152
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- Article
Manic and Depressive Symptoms in Children Diagnosed with Noonan Syndrome.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 233, doi. 10.3390/brainsci11020233
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- Article
Recognition Memory in Noonan Syndrome.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 2, p. 169, doi. 10.3390/brainsci11020169
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- Article
Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality.
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- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1121059
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- Article
Noonan Syndrome in South Africa: Clinical and Molecular Profiles.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00333
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- Article
Brain Herniation in Neurofibromatosis with Dysplasia of Occipital Bone and Posterior Skull Base.
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- 2015
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- Case Study
Neurofibromatosis Type 1 Associated with Hashimoto's Thyroiditis: Coincidence or Possible Link.
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- Case Reports in Neurological Medicine, 2013, p. 1, doi. 10.1155/2013/910656
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- Article
Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant.
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- Case Reports in Endocrinology, 2021, p. 1, doi. 10.1155/2021/5571524
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- Article
Remedial operations for failed endovascular therapy of 32 renal artery stenoses in 24 children.
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- Pediatric Nephrology, 2016, v. 31, n. 5, p. 809, doi. 10.1007/s00467-015-3275-3
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- Article
Ectatic Coronary Arteries in Noonan Syndrome.
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- Texas Heart Institute Journal, 2011, v. 38, n. 3, p. 318
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Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys.
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- Hormone Research in Paediatrics, 2022, v. 95, n. 1, p. 51, doi. 10.1159/000522670
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Long-Term Effectiveness and Safety of Childhood Growth Hormone Treatment in Noonan Syndrome.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 6, p. 380, doi. 10.1159/000512429
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LZTR1: Genotype Expansion in Noonan Syndrome.
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- Hormone Research in Paediatrics, 2019, v. 92, n. 4, p. 269, doi. 10.1159/000502741
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Treatment with Growth Hormone in Noonan Syndrome Observed during 25 Years of KIGS: Near Adult Height and Outcome Prediction.
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- Hormone Research in Paediatrics, 2019, v. 91, n. 1, p. 46, doi. 10.1159/000498859
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- Article
Occurrence of Cranial Neoplasms in Pediatric Patients with Noonan Syndrome Receiving Growth Hormone: Is Screening with Brain MRI prior to Initiation of Growth Hormone Indicated?
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- 2017
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- Case Study
The Efficacy and Safety of Growth Hormone Therapy in Children with Noonan Syndrome: A Review of the Evidence.
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- Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 157, doi. 10.1159/000369012
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- Article
The Impact of Growth Hormone Therapy on Adult Height in Noonan Syndrome: A Systematic Review.
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- Hormone Research in Paediatrics, 2015, v. 83, n. 3, p. 167, doi. 10.1159/000371635
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- Article
Response to Growth Hormone Therapy in Children with Noonan Syndrome: Correlation with or without PTPN11 Gene Mutation.
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- Hormone Research in Paediatrics, 2012, v. 77, n. 6, p. 388, doi. 10.1159/000339677
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- Article
Evo-Devo of Child Growth III: Premature Juvenility as an Evolutionary Trade-Off.
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- Hormone Research in Paediatrics, 2010, v. 73, n. 6, p. 430, doi. 10.1159/000282109
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- Article
Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype—A Multi-Center Retrospective Study.
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- Genes, 2024, v. 15, n. 11, p. 1463, doi. 10.3390/genes15111463
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- Article
Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.
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- Genes, 2024, v. 15, n. 11, p. 1379, doi. 10.3390/genes15111379
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- Article
Cardiac Phenotype and Gene Mutations in RASopathies.
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- Genes, 2024, v. 15, n. 8, p. 1015, doi. 10.3390/genes15081015
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- Article
Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features.
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- 2024
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- Case Study
Spectrum of Mutations in PTPN11 in Russian Cohort.
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- Genes, 2024, v. 15, n. 3, p. 345, doi. 10.3390/genes15030345
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A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.
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- Genes, 2024, v. 15, n. 1, p. 32, doi. 10.3390/genes15010032
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Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma–Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances.
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- Genes, 2023, v. 14, n. 12, p. 2173, doi. 10.3390/genes14122173
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- Article
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications.
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- Genes, 2023, v. 14, n. 12, p. 2111, doi. 10.3390/genes14122111
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Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation.
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- Genes, 2022, v. 13, n. 9, p. 1503, doi. 10.3390/genes13091503
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MEK Inhibition in a Newborn with RAF1 -Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.
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- Genes, 2022, v. 13, n. 1, p. 6, doi. 10.3390/genes13010006
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- Article
Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy.
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- Genes, 2020, v. 11, n. 8, p. 947, doi. 10.3390/genes11080947
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Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.
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- Genes, 2019, v. 10, n. 9, p. 675, doi. 10.3390/genes10090675
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- Article
Legius Syndrome and its Relationship with Neurofibromatosis Type 1.
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- Acta Dermato-Venereologica, 2020, v. 100, p. 161, doi. 10.2340/00015555-3429
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- Article
Skin Lesions Suggesting Type 2 Segmental Mosaicism in Noonan Syndrome.
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- 2019
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- Case Study
A Case of Noonan Syndrome with Multiple Subcutaneous Tumours with MAPK-ERK/p38 Activation.
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- 2016
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- Case Study
Effective Palliation of Intractable Bleeding from Noonan Syndrome-associated Lymphatic Malformations by Radiotherapy.
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- 2015
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- Case Study
Chiari I Malformation Associated with Turner Syndrome.
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- Journal of Neurosciences in Rural Practice, 2017, v. 8, n. 2, p. 277, doi. 10.4103/0976-3147.203840
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- Article
Síndrome de Noonan: presentación de un caso.
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- Salus Online, 2018, v. 22, n. 3, p. 36
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- Article
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
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- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-020-00865-x
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- Article
Myocardial hypertrophy with aortic dysplasia: a rare case of Noonan syndrome.
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- 2023
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- Publication type:
- Case Study
Excitatory neuron–specific SHP2-ERK signaling network regulates synaptic plasticity and memory.
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- Science Signaling, 2019, v. 12, n. 571, p. N.PAG, doi. 10.1126/scisignal.aau5755
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Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner.
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- Science Signaling, 2018, v. 11, n. 522, p. 1, doi. 10.1126/scisignal.aao1591
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- Article