Works matching DE "COSTELLO syndrome"
Results: 40
A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway.
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- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00388
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- Article
In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome.
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- Frontiers in Cellular Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fncel.2015.00234
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- Article
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
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- British Journal of Cancer, 2015, v. 112, n. 8, p. 1392, doi. 10.1038/bjc.2015.75
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- Article
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.
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- PLoS Genetics, 2016, v. 12, n. 5, p. 1, doi. 10.1371/journal.pgen.1006039
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- Article
Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome.
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- Children, 2022, v. 9, n. 6, p. 905, doi. 10.3390/children9060905
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- Article
Anesthetic Management of Costello Syndrome: A Case Report.
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- AANA Journal, 2014, v. 82, n. 2, p. 108
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- Article
'Cobblestone' papillomatous linear papules of the upper lip: a new sign of Costello syndrome.
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- British Journal of Dermatology, 2013, v. 168, n. 4, p. 903, doi. 10.1111/bjd.12103
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- Article
Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development.
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- British Journal of Dermatology, 2012, v. 166, n. 3, p. 601, doi. 10.1111/j.1365-2133.2011.10744.x
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- Article
Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin.
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- Pediatric Dermatology, 2017, v. 34, n. 2, p. 160, doi. 10.1111/pde.13057
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- Article
Prenatal Diagnosis of Costello Syndrome Using Noninvasive Prenatal Single Gene Testing With Maternal Blood.
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- Journal of Neonatology, 2023, v. 37, n. 4, p. 390, doi. 10.1177/09732179231173258
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- Article
Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c. 179G>T; p. Gly60Val) affecting signalling dynamics.
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- Clinical Genetics, 2017, v. 92, n. 3, p. 332, doi. 10.1111/cge.12980
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- Article
Malignancy in Noonan syndrome and related disorders.
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- Clinical Genetics, 2015, v. 88, n. 6, p. 516, doi. 10.1111/cge.12568
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- Article
Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.
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- Clinical Genetics, 2012, v. 81, n. 6, p. 590, doi. 10.1111/j.1399-0004.2011.01754.x
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- Article
HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 837, doi. 10.1038/ejhg.2013.251
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- Article
C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 870, doi. 10.1038/ejhg.2012.12
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- Article
Costello syndrome.
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- Anaesthesiologie & Intensivmedizin, 2021, v. 62, p. 1, doi. 10.19224/ai2021.S075
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- Article
Anaesthesia recommendations for Costello syndrome.
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- Anaesthesiologie & Intensivmedizin, 2021, v. 62, n. 3, p. S75, doi. 10.19224/ai2021.S075
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- Article
Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations.
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- 2020
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- Letter
EP05.10: Doppler assessment of hypertrophic cardiomyopathy in a case of Costello syndrome.
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- 2016
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- Publication type:
- journal article
Recombinant growth hormone therapy in a girl with costello syndrome: a 4-year observation.
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- Italian Journal of Pediatrics, 2016, v. 42, p. 1, doi. 10.1186/s13052-015-0209-4
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- Article
Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome.
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- International Journal of Molecular Sciences, 2016, v. 17, n. 6, p. 952, doi. 10.3390/ijms17060952
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- Article
Functional robustness of adult spermatogonial stem cells after induction of hyperactive Hras.
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- PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008139
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- Article
RASopathies and spinal deformities for screening of scoliosis.
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- Pediatrics International, 2023, v. 65, n. 1, p. 1, doi. 10.1111/ped.15589
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- Article
Syndromes with gingival fibromatosis: A systematic review.
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- Oral Diseases, 2021, v. 27, n. 4, p. 881, doi. 10.1111/odi.13369
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- Article
Dysregulation of astrocyte extracellular signaling in Costello syndrome.
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- Science Translational Medicine, 2015, v. 7, n. 286, p. 1, doi. 10.1126/scitranslmed.aaa5645
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- Publication type:
- Article
Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA; p.G12E)-Associated Pulmonary Vascular Disease.
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- Pediatric & Developmental Pathology, 2014, v. 17, n. 6, p. 421, doi. 10.2350/14-05-1488-OA.1
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- Article
Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.
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- 2017
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- Case Study
Neonatal hyperinsulinism—broadening the differential diagnosis.
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- 2023
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- Publication type:
- Case Study
Impaired synaptic plasticity in RASopathies: a mini-review.
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- Journal of Neural Transmission, 2016, v. 123, n. 10, p. 1133, doi. 10.1007/s00702-016-1609-3
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- Article
Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review.
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- Pediatric Dermatology, 2013, v. 30, n. 6, p. 665, doi. 10.1111/pde.12171
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- Publication type:
- Article
Costello Syndrome with Severe Nodulocystic Acne: Unexpected Significant Improvement of Acanthosis Nigricans after Oral Isotretinoin Treatment.
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- Case Reports in Pediatrics, 2015, v. 2015, p. 1, doi. 10.1155/2015/934865
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- Article
Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient.
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- Clinical & Experimental Dermatology, 2015, v. 40, n. 4, p. 404, doi. 10.1111/ced.12571
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- Article
Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding.
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- Neuroradiology Journal, 2015, v. 28, n. 3, p. 254, doi. 10.1177/1971400915592549
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- Article
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
Cellular evidence for selfish spermatogonial selection in aged human testes.
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- Andrology, 2014, v. 2, n. 3, p. 304, doi. 10.1111/j.2047-2927.2013.00175.x
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- Article
Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient.
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- Frontiers in Oncology, 2017, v. 7, p. 1, doi. 10.3389/fonc.2017.00042
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- Publication type:
- Article
Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome.
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- Journal of Neuroscience, 2016, v. 36, n. 1, p. 142, doi. 10.1523/JNEUROSCI.1547-15.2016
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- Article
Author's Reply.
- Published in:
- 2016
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- Publication type:
- Letter to the Editor
Laryngeal Mask Airway Anaesthesia in Hypotonic Cases with Expected Difficult Intubation.
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- 2016
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- Publication type:
- Letter to the Editor
Costello Sendromunda Kardiyak Tutulum: Altı Olgunun Değerlendirilmesi.
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- Journal of Current Pediatrics / Guncel Pediatri, 2013, v. 11, n. 2, p. 63, doi. 10.4274/Jcp.11.44153
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- Publication type:
- Article