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Epidemiology of Pediatric Cardiomyopathy in a Mediterranean Population.
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- Children, 2024, v. 11, n. 6, p. 732, doi. 10.3390/children11060732
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- Article
Hyperbaric oxygen treatment in bilateral orchiopexy and post-circumcision haematoma in a thrombocytopenic patient with Noonan syndrome.
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- Diving & Hyperbaric Medicine: Journal of the South Pacific Underwater Medicine Society, 2024, v. 54, n. 2, p. 133, doi. 10.28920/dhm54.2.133-136
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Cover Image.
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- IUBMB Life, 2024, v. 76, n. 6, p. 1, doi. 10.1002/iub.2746
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- Article
Coexisting PTPN11 and TNNT2 mutations in noonan syndrome with multiple lentigines.
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- QJM: An International Journal of Medicine, 2024, v. 117, n. 6, p. 460, doi. 10.1093/qjmed/hcae029
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Computer-based facial recognition as an assisting diagnostic tool to identify children with Noonan syndrome.
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- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-04827-7
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- Article
Gonadal dysfunction in a man with Noonan syndrome from the LZTR1 variant: case report and review of literature.
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- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1354699
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Charting new frontiers in paediatric cardiomyopathies: lessons from the ESC EORP Cardiomyopathy and Myocarditis Registry in paediatric age.
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- European Heart Journal, 2024, v. 45, n. 16, p. 1455, doi. 10.1093/eurheartj/ehae143
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Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1383176
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Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review.
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- Genes, 2024, v. 15, n. 4, p. 445, doi. 10.3390/genes15040445
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Autism spectrum disorder profiles in RASopathies: A systematic review.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2428
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- Article
Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence.
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- JAMA Network Open, 2024, v. 7, n. 3, p. e242609, doi. 10.1001/jamanetworkopen.2024.2609
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A Rare Neurological Presentation of Noonan Syndrome and Its Management—A Case Report.
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- 2024
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- Case Study
Novel therapeutic perspectives in Noonan syndrome and RASopathies.
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- European Journal of Pediatrics, 2024, v. 183, n. 3, p. 1011, doi. 10.1007/s00431-023-05263-y
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- Article
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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Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals.
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- Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 1, p. 76, doi. 10.4274/jcrpe.galenos.2023.2023-5-16
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- Article
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.
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- Journal of Neurology, 2024, v. 271, n. 3, p. 1331, doi. 10.1007/s00415-023-12070-w
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Genetics Corner: Resolved Fetal Hydrops in a Newborn with Noonan Syndrome.
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- Neonatology Today, 2024, v. 19, n. 2, p. 179
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- Article
Coronary arteriopathy in a patient with Noonan phenotype: Case report.
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- Annals of Pediatric Cardiology, 2024, v. 17, n. 1, p. 70, doi. 10.4103/apc.apc_145_23
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A Rare Neurological Presentation of Noonan Syndrome and Its Management—A Case Report.
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- 2024
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- Case Study
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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- Article
The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2313
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- Article
RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2290
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- Article
Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics.
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- Bioengineering (Basel), 2023, v. 10, n. 12, p. 1375, doi. 10.3390/bioengineering10121375
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- Article
An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.
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- Cardiovascular Drugs & Therapy, 2023, v. 37, n. 6, p. 1193, doi. 10.1007/s10557-022-07324-0
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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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- Article
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
A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report.
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- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 4, p. 438, doi. 10.4274/jcrpe.galenos.2022.2021-12-24
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- Article
A bicarotid trunk with associated right retroesophageal subclavian artery in a child with neurofibromatosis type 1 complicated by a left hemispheric stroke.
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- Surgical & Radiologic Anatomy, 2023, v. 45, n. 12, p. 1599, doi. 10.1007/s00276-023-03253-1
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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
Neuropsychiatric phenotypes in children with Noonan syndrome.
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- Developmental Medicine & Child Neurology, 2023, v. 65, n. 11, p. 1520, doi. 10.1111/dmcn.15627
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- Article
Noonan syndrome: rhGH treatment and PTPN11 mutation.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 11, p. 1, doi. 10.1002/mgg3.2266
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- Article
Rare Congenital Dissecting Thoracic Aortic Aneurysm in a Child with Noonan Syndrome: A Case Report.
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- Oman Medical Journal, 2023, v. 38, n. 6, p. 18, doi. 10.5001/omj.2023.66
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Case report: Noonan syndrome with protein-losing enteropathy.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1237821
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- Article
PP-21 Noonan syndrome presented with cystic hygroma in the first trimester.
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- 2023
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- Case Study
Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome—A Case Report.
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- Children, 2023, v. 10, n. 10, p. 1643, doi. 10.3390/children10101643
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- Article
Non-Contrast MR Lymphography and Intranodal Dynamic Contrast MR Lymphangiography in Children with Congenital Heart Disease—Imaging Findings as well as Impact on Patient Management and Outcome.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 19, p. 14827, doi. 10.3390/ijms241914827
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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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- Case Study
Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant.
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- Yonago Acta Medica, 2023, v. 66, n. 4, p. 463, doi. 10.33160/yam.2023.11.005
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- Article
Clinical profile and outcomes of pediatric hypertrophic cardiomyopathy in a South Indian tertiary care cardiac center: a three decade experience.
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- BMC Pediatrics, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12887-023-04255-z
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- Article
Abnormalities of pubertal development and gonadal function in Noonan syndrome.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1213098
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- Article
Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1209339
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- Article
Abnormalities of pubertal development and gonadal function in Noonan syndrome.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1213098
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- Publication type:
- Article
Hypertrophic neuropathy: a possible cause of pain in children with Noonan syndrome and related disorders.
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- European Journal of Pediatrics, 2023, v. 182, n. 8, p. 3789, doi. 10.1007/s00431-023-05045-6
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- Article
The Multifaceted Syndromic Primary Immunodeficiencies in Children.
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- Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 4964, doi. 10.3390/jcm12154964
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- Article
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
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- Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 5003, doi. 10.3390/jcm12155003
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- Article
The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02818-y
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- Article
Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome.
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- Clinical Genetics, 2023, v. 104, n. 1, p. 136, doi. 10.1111/cge.14308
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- Article
How calm should I keep? Café-au-lait macules as potential manifestations of cancer susceptibility syndromes.
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- Oncolog-Hematolog, 2023, n. 64, p. 33
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- Article
Oral manifestations of eleven individuals with Noonan syndrome. A case series.
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- Special Care in Dentistry, 2023, v. 43, n. 4, p. 492, doi. 10.1111/scd.12780
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- Article
Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues.
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- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05013-8
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- Article