Works matching DE "NOONAN syndrome"
Results: 549
Editorial: Endocrine aspects of Noonan syndrome and related syndromes, volume II.
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- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1566521
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Síndrome de Noonan.
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- Revista ADM, 2025, v. 82, n. 1, p. 39, doi. 10.35366/119369
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- Article
努南综合征的生长发育规律与身材矮小的临床治疗进展.
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- Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 1, p. 33, doi. 10.7499/j.issn.1008-8830.2409047
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Severe coronary artery ectesia in a paediatric patient with Noonan syndrome presenting for transcatheter pulmonary valve placement.
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- 2025
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- Case Study
Novel use of trametinib for treatment of atrial arrhythmia in absence of cardiomyopathy in a patient with Costello syndrome.
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- 2024
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- Case Study
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
Low-dose Dasatinib Ameliorates Hypertrophic Cardiomyopathy in Noonan Syndrome with Multiple Lentigines.
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- Cardiovascular Drugs & Therapy, 2022, v. 36, n. 4, p. 589, doi. 10.1007/s10557-021-07169-z
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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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Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
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- Human Genetics, 2019, v. 138, n. 1, p. 21, doi. 10.1007/s00439-018-1951-7
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Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene.
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- 2021
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- Letter
THE EFFECTS OF EXPLICIT INSTRUCTION ON THE WRITING ABILITY OF A STUDENT WITH NOONAN SYNDROME.
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- International Journal of Special Education, 2014, v. 29, n. 3, p. 134
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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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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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EP18.30: Enlarged yolk sac as a potential new phenotype of RAF1 Noonan syndrome.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 290, doi. 10.1002/uog.28766
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- Article
EP05.23: Second trimester external hydrocephalus in Noonan syndrome with SOS1 gene mutation.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 139, doi. 10.1002/uog.28126
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Diagnostic yield of next-generation sequencing in fetuses with isolated increased nuchal translucency: systematic review and meta-analysis.
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- 2022
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- journal article
VP16.19: Prenatal diagnosis of a case of Noonan syndrome with RAF1 gene mutation using clinical‐exome sequencing.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 168, doi. 10.1002/uog.24287
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VP16.07: Prenatal feature prenatal findings of a case of Noonan syndrome and Noonan syndrome‐like disorders.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 165, doi. 10.1002/uog.24275
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VP31.05: Management of Noonan syndrome in pregnancy.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 187, doi. 10.1002/uog.22801
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VP31.04: Noonan syndrome: an iterative case.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 187, doi. 10.1002/uog.22800
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- Article
VP08.02: Noonan syndrome screening by non‐invasive prenatal testing for single‐gene disorders.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 81, doi. 10.1002/uog.22432
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- Article
Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency?
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- 2020
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- journal article
P01.10: Incidence of Noonan syndrome in fetuses with persistent increased nuchal translucency, normal karyotype and normal Array‐CGH: a prospective study.
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 158, doi. 10.1002/uog.20883
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- Article
OP02.06: Noonan syndrome fetal phenotype with PTPN11, RIT1, RAF1 and NRAS pathogenic variant: ultrasound data, fetopathology study and literature review.
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 89, doi. 10.1002/uog.20662
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OP23.10: Prenatal genetic screening and neonatal outcomes in fetuses with echogenic intra‐abdominal structures.
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- Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 137, doi. 10.1002/uog.19613
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EP12.01: Noonan syndrome: new features.
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- 2016
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- journal article
Low vitamin C status and hypermobility‐related disorders in patients with bleeding disorder of unknown cause.
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- Haemophilia, 2024, v. 30, n. 6, p. 1366, doi. 10.1111/hae.15099
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Coagulation abnormalities and haemostatic surgical outcomes in 142 patients with Noonan syndrome.
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- Haemophilia, 2017, v. 23, p. e237, doi. 10.1111/hae.13225
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Ankle joint-preserving surgery in a patient with severe haemophilia and Noonan syndrome: case report and literature review.
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- Haemophilia, 2015, v. 21, n. 1, p. e105, doi. 10.1111/hae.12583
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- Article
Mapping the current status and outlook of research on noonan syndrome over the last 26 years: a bibliometric and visual analysis.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1488425
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- Article
Acute Gastric Dilatation: A Transient Cause of Hepatic Portal Venous Gas--Case Report and Review of the Literature.
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- Case Reports in Gastrointestinal Medicine, 2013, p. 1, doi. 10.1155/2013/723160
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- Article
Metastatic brain melanoma in a patient with Noonan syndrome with multiple lentigines.
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- Our Dermatology Online / Nasza Dermatologia Online, 2022, v. 13, n. 4, p. 430, doi. 10.7241/ourd.20224.17
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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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Editorial: Endocrine aspects of Noonan syndrome and related syndromes.
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- Frontiers in Endocrinology, 2023, v. 13, p. 1, doi. 10.3389/fendo.2022.1127686
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- Article
Endocrine system involvement in patients with RASopathies: A case series.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1030398
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- Article
Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.951331
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RAS pathway and diseases.
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- Anatomy: International Journal of Experimental & Clinical Anatomy, 2019, v. 13, n. S1, p. S16
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Bacterial Sepsis among Children with Congenital Heart Disease in Tikur Anbessa Specialized Hospital, Addis Ababa, Ethiopia.
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- Ethiopian Journal of Health Sciences, 2022, v. 32, n. 3, p. 523, doi. 10.4314/ejhs.v32i3.7
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Noonan Syndrome and Acute Myeloid Leukemia in Adults: The Importance of a Correct Multidisciplinary Approach during Childhood.
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- Acta Haematologica, 2020, v. 143, n. 6, p. 518, doi. 10.1159/000506388
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Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions.
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- Acta Haematologica, 2020, v. 143, n. 6, p. 583, doi. 10.1159/000505715
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Images of the month 2: A leopard never changes its spots.
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- 2020
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- Case Study
IMAGING OF LYMPHATIC DYSPLASIA IN NOONAN SYNDROME: CASE STUDIES AND HISTORICAL ATLAS.
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- Lymphology, 2021, v. 54, n. 1, p. 23, doi. 10.2458/lymph.4679
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LYMPHATIC SYSTEM MALFORMATIONS IN NOONAN SYNDROME: TWO CASE REPORTS AND IMAGING ANALYSIS.
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- Lymphology, 2020, v. 53, n. 2, p. 76, doi. 10.2458/lymph.4657
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Noonan syndrome: coagulation and clinical aspects.
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- 1996
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- journal article
Giant Cell Lesions of the Jaws Involving RASopathy Syndromes.
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- Acta Stomatologica Croatica, 2022, v. 56, n. 1, p. 77, doi. 10.15644/asc56/1/9
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- Article
Obliterated cavum septi pellucidi: Clinical significance and role of fetal magnetic resonance.
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- Acta Obstetricia et Gynecologica Scandinavica, 2023, v. 102, n. 6, p. 744, doi. 10.1111/aogs.14575
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- Article
Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.
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- Annals of Hematology, 2012, v. 91, n. 4, p. 511, doi. 10.1007/s00277-011-1326-9
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- Article
Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway.
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- 2017
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- journal article
Neurobehavioural vulnerability and autistic traits in RASopathies.
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- 2017
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- journal article
Attention skills and executive functioning in children with Noonan syndrome and their unaffected siblings.
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- Developmental Medicine & Child Neurology, 2015, v. 57, n. 4, p. 385, doi. 10.1111/dmcn.12621
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- Article