Works matching Noonan syndrome
Results: 1337
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.
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- Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, n. 1, p. 96, doi. 10.4274/jcrpe.2070
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- Article
Feeding Problems in Patients with Noonan Syndrome: A Narrative Review.
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- Journal of Clinical Medicine, 2022, v. 11, n. 3, p. 754, doi. 10.3390/jcm11030754
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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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- Article
Noonan-szindróma családi halmozódása.
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- Gyermekgyógyászat, 2022, v. 73, n. 4, p. 308
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- Article
Observation and Management of Juvenile Myelomonocytic Leukemia and Noonan Syndrome-Associated Myeloproliferative Disorder: A Real-World Experience †.
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- Cancers, 2024, v. 16, n. 15, p. 2749, doi. 10.3390/cancers16152749
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- Article
Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome.
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- 2021
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- Case Study
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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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 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
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
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
Molecular and environmental characterization of Noonan syndrome in Morocco reveals a significant association with consanguinity and advanced parental age.
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- Egyptian Journal of Medical Human Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s43042-020-0047-9
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- Article
Noonan syndrome: a case report.
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- 2009
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- Case Study
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.
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- 2018
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- journal article
Targeted Molecular Sequencing Revealed Allelic Heterogeneity of BRAF and PTPN11 Genes among Arab Noonan Syndrome Patients.
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- Russian Journal of Genetics, 2018, v. 54, n. 8, p. 975, doi. 10.1134/S1022795418080033
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- Article
Endoscopic Mitral Surgery in Noonan Syndrome—Case Report and Considerations.
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- Journal of Clinical Medicine, 2025, v. 14, n. 2, p. 583, doi. 10.3390/jcm14020583
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- Article
Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review.
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- 2024
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- Case Study
Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death.
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- 2018
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- Case Study
Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis.
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- Clinical Case Reports, 2017, v. 5, n. 7, p. 1152, doi. 10.1002/ccr3.1011
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- Article
Management of Cardiovascular Disorders in Patients with Noonan Syndrome: A Case Report.
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- Journal of Tehran University Heart Center, 2017, v. 12, n. 4, p. 184
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- Article
CRYPTORCHIDISM AND PRECOCIOUS PUBERTY IN A PATIENT WITH NOONAN SYNDROME AND 21-HYDROXYLASE DEFICIENCY.
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- 2015
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- Case Study
GENOTYPE - PHENOTYPE CORRELATIONS IN NOONAN SYNDROME.
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- Acta Endocrinologica (1841-0987), 2014, v. 10, n. 3, p. 463, doi. 10.4183/aeb.2014.463
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- Article
A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.
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- 2020
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- journal article
A Novel Mutation on RAF1 in Association with Fetal Findings Suggestive of Noonan Syndrome.
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- Fetal & Pediatric Pathology, 2015, v. 34, n. 6, p. 361, doi. 10.3109/15513815.2015.1087609
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- Article
Twin Infant with Lymphatic Dysplasia Diagnosed with Noonan Syndrome by Molecular Genetic Testing.
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- Fetal & Pediatric Pathology, 2014, v. 33, n. 4, p. 253, doi. 10.3109/15513815.2014.904026
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- Article
Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant.
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- Congenital Anomalies, 2021, v. 61, n. 6, p. 226, doi. 10.1111/cga.12435
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- Article
Multiple Unerupted Permanent Teeth Associated with Noonan Syndrome.
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- 2015
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- Case Study
Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.915129
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- Article
Surgical Orthodontic Treatment for Open Bite in Noonan Syndrome Patient: A Case Report.
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- Cleft Palate Craniofacial Journal, 2016, v. 53, n. 2, p. 253, doi. 10.1597/14-196
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- Article
Conservative Management of Severe Open Bite and Feeding Difficulties in Patient With Noonan Syndrome.
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- Cleft Palate Craniofacial Journal, 2013, v. 50, n. 2, p. 242, doi. 10.1597/11-214
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- Article
Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?
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- 2008
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- journal article
Panhipopituitarizm, hipotiroidi ve Noonan sendromlu pediatrik hastada anestezik yaklaşım: Olgu sunumu.
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- 2013
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- Case Study
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
Rapid progression of mitral valve disease in a child with Noonan syndrome.
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- 2020
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- journal article
Noonan syndrome - a new survey.
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- 2017
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- journal article
Severe thrombocytopenia and intracranial hemorrhage in a newborn with Noonan syndrome and neonatal alloimmune thrombocytopenia.
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- 2022
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- Case Study
Survival Implications: Hypertrophic Cardiomyopathy in Noonan Syndrome.
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- Congenital Heart Disease, 2011, v. 6, n. 1, p. 41, doi. 10.1111/j.1747-0803.2010.00465.x
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- Article
Chronic tubulointerstitial nephritis in a solitary kidney of a child with Noonan syndrome.
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- 2012
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- Case Study
Pulmonální valvární stenóza u dítěte se syndromem Noonanové.
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- Pediatrie pro Praxi, 2022, v. 23, n. 2, p. 124
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- Article
OROFACIAL FINDINGS IN NOONAN SYNDROME: A CASE REPORT.
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- 2013
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- Case Study
Improved final height with long-term growth hormone treatment in Noonan syndrome.
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- 2005
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- journal article
Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency.
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- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 1, doi. 10.1186/s13052-015-0183-x
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- Article
Unexpected cause of headache in a patient with Noonan syndrome: aseptic meningitis.
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- Polish Journal of Allergology / Alergologia Polska, 2024, v. 11, n. 4, p. 327, doi. 10.5114/pja.2024.142944
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- Article
Multimodality lymphatic imaging of postoperative chylothorax in an infant with Noonan syndrome: a case report.
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- European Journal of Medical Research, 2020, v. 25, n. 1, p. N.PAG, doi. 10.1186/s40001-020-00455-w
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- Article
Development of disease-specific growth charts in Turner syndrome and Noonan syndrome.
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- Annals of Pediatric Endocrinology & Metabolism, 2017, v. 22, n. 4, p. 240, doi. 10.6065/apem.2017.22.4.240
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- Article
Noonan Syndrome with Coronary Anomaly.
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- 2017
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- Case Study
Noonan Syndrome Presenting as Lymphoedema Precox.
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- 2012
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- Publication type:
- Case Study
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia.
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- Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 1, p. 113, doi. 10.4274/jcrpe.galenos.2019.2019.0023
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- Article
Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2‐related disorders.
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- Clinical Genetics, 2021, v. 99, n. 3, p. 457, doi. 10.1111/cge.13904
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- Article