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The First Familiar Case of PTEN-Related Disorder Reported in Albania.
- Published in:
- Turkish Archives of Pediatrics, 2023, v. 58, n. 5, p. 559, doi. 10.5152/TurkArchPediatr.2023.23093
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- Article
PROTEUS SYNDROME: A RARE DISEASE OF DISPROPORTIONATE AND ASYMMETRIC OVERGROWTH OF CONNECTIVE TISSUE.
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- Journal of Ayub Medical College Abbottabad - Pakistan, 2023, v. 35, n. 1, p. 177, doi. 10.55519/JAMC-01-11210
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- Article
Phenotypic Features of Cystic Lung Disease in Proteus Syndrome: A Clinical Trial.
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- Annals of the American Thoracic Society, 2022, v. 19, n. 11, p. 1871, doi. 10.1513/AnnalsATS.202111-1214OC
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- Article
Case report: five-year experience of AKT inhibition with miransertib (MK-7075) in an individual with Proteus syndrome.
- Published in:
- 2021
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- Publication type:
- Case Study
Esthetic and Functional Improvement of Asymmetric Lower Limb Overgrowth in a Proteus Syndrome Patient: a Combined Surgical Technique.
- Published in:
- Indian Journal of Surgery, 2021, v. 83, n. 6, p. 1557, doi. 10.1007/s12262-021-02773-7
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- Publication type:
- Article
Proteus syndrome in pregnancy: A case report.
- Published in:
- Obstetric Medicine (1753-495X), 2021, v. 14, n. 4, p. 253, doi. 10.1177/1753495X20970791
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- Publication type:
- Article
Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan.
- Published in:
- Children, 2021, v. 8, n. 11, p. 1, doi. 10.3390/children8110952
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- Article
Aberrant muscular hyperplasia of the hand and PIK3CA related overgrowth spectrum disorders. A case series study.
- Published in:
- Cirugía Pediátrica (English Edition), 2021, v. 34, n. 4, p. 200
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- Publication type:
- Article
Isolated SOLAMEN syndrome.
- Published in:
- 2021
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- Publication type:
- Case Study
Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings.
- Published in:
- 2021
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- Publication type:
- Case Study
Cardiothoracic imaging findings of Proteus syndrome.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-86029-0
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- Publication type:
- Article
Síndrome de Proteus y embarazo. Reporte de un caso.
- Published in:
- Ginecología y Obstetricia de México, 2021, v. 89, n. 2, p. 151, doi. 10.24245/gom.v89i2.4307
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- Publication type:
- Article
Allelic heterogeneity of Proteus syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005181
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- Article
Tuberous Sclerosis With Segmental Overgrowth.
- Published in:
- 2020
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- Publication type:
- Letter to the Editor
Radiological Imaging in Diagnosis of Proteus Syndrome.
- Published in:
- Journal of Clinical & Diagnostic Research, 2019, v. 13, n. 10, p. 1, doi. 10.7860/JCDR/2019/41601.13181
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- Publication type:
- Article
Population Dynamics of Anopheles albimanus (Diptera: Culicidae) at Ipetí-Guna, a Village in a Region Targeted for Malaria Elimination in Panamá.
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- Insects (2075-4450), 2018, v. 9, n. 4, p. 164, doi. 10.3390/insects9040164
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- Publication type:
- Article
PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report.
- Published in:
- 2018
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- Publication type:
- Case Study
Protean manifestations of Proteus syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
CNS embryonal tumours: WHO 2016 and beyond.
- Published in:
- Neuropathology & Applied Neurobiology, 2018, v. 44, n. 2, p. 151, doi. 10.1111/nan.12443
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- Publication type:
- Article
Clinical and haemodynamic risk factors associated with discrepancies in lower limb length with capillary malformations: data from the national paediatric French cohort CONAPE.
- Published in:
- British Journal of Dermatology, 2018, v. 178, n. 2, p. 520, doi. 10.1111/bjd.16017
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- Publication type:
- Article
Esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report.
- Published in:
- 2018
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- Publication type:
- Case Study
Clinical and sonographic features of pediatric soft-tissue vascular anomalies part 2: vascular malformations.
- Published in:
- 2017
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- Publication type:
- journal article
Nasopharyngeal angiofibroma in an adult with Proteus syndrome. First reported case.
- Published in:
- 2017
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- Publication type:
- Case Study
Proteus Syndrome.
- Published in:
- Journal of Pioneering Medical Sciences, 2017, v. 7, n. 2, p. 24
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- Publication type:
- Article
Proteus syndrome: A case report and review of the literature.
- Published in:
- Molecular & Clinical Oncology, 2017, v. 6, n. 3, p. 381, doi. 10.3892/mco.2017.1140
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- Publication type:
- Article
A Rare Case of Diffuse Hemangiomatosis of the Spleen with Splenic Rupture following Aortic Valve Replacement.
- Published in:
- 2017
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- Publication type:
- Case Study
Proteus Syndrome with Neurological Manifestations: A Rare Presentation.
- Published in:
- Journal of Pediatric Neurosciences, 2017, v. 12, n. 1, p. 109, doi. 10.4103/jpn.JPN_139_16
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- Publication type:
- Article
Bronchoscopic concerns in Proteus syndrome.
- Published in:
- Korean Journal of Anesthesiology, 2016, v. 69, n. 5, p. 523, doi. 10.4097/kjae.2016.69.5.523
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- Publication type:
- Article
Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome.
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- British Journal of Dermatology, 2016, v. 175, n. 3, p. 612, doi. 10.1111/bjd.14478
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- Publication type:
- Article
Early Recognition of Proteus Syndrome.
- Published in:
- Pediatric Dermatology, 2016, v. 33, n. 5, p. e306, doi. 10.1111/pde.12900
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- Article
Unilateral proteus syndrome in a neonate: A very rare presentation.
- Published in:
- 2016
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- Publication type:
- Case Study
Proteus syndrome: evaluation of the immunological profile.
- Published in:
- 2016
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- Publication type:
- case study
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.
- Published in:
- 2015
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- Publication type:
- Case Study
Ultrasound-guided neural blockade in Proteus syndrome.
- Published in:
- 2015
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- Publication type:
- Case Study
Unilateral hypertrophic skin lesions, hemimegalencephaly, and meningioma: The many faces of Proteus syndrome.
- Published in:
- 2015
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- Publication type:
- Case Study
Brentuximab vedotin in the treatment of a patient with refractory Hodgkin disease and Proteus syndrome - a case report and discussion.
- Published in:
- Clinical Case Reports, 2015, v. 3, n. 7, p. 646, doi. 10.1002/ccr3.297
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- Publication type:
- Article
Operative Management of OSAS in a Complex Case of Proteus Syndrome.
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- Case Reports in Otolaryngology, 2015, v. 2015, p. 1, doi. 10.1155/2015/137589
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- Publication type:
- Article
Fibroadipose Hyperplasia versus Proteus Syndrome: Segmental Overgrowth with a Mosaic Mutation in the PIK3CA Gene.
- Published in:
- Journal of Investigative Dermatology, 2015, v. 135, n. 5, p. 1450, doi. 10.1038/jid.2015.15
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- Publication type:
- Article
E-Posters.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 2015, v. 122, p. 130, doi. 10.1111/1471-0528.13376
- Publication type:
- Article
Hemilateral Proteus Syndrome: An Unusual Hamartomatous Disorder with Significant Cerebellar Tonsillar Herniation.
- Published in:
- 2015
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- Publication type:
- Case Study
Fronto-temporal cerebriform connective tissue nevus in Proteus syndrome.
- Published in:
- 2014
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- Publication type:
- Case Study
Proteus Syndrome: a difficult diagnosis and management plan.
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- Journal of Medicine & Life, 2014, v. 7, n. 4, p. 563
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- Publication type:
- Article
Operative management of splenic injury in a patient with proteus syndrome.
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- Journal of Emergencies, Trauma & Shock, 2014, v. 7, n. 3, p. 233, doi. 10.4103/0974-2700.136872
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- Publication type:
- Article
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-49
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- Article
Proteus syndrome: More vigilance needed to diagnose it.
- Published in:
- 2014
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- Publication type:
- Letter to the Editor
Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-34
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- Publication type:
- Article
Proteus syndrome: A rare cause of gigantic limb.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Radiologic Features or Proteus Syndrome: A Case Report.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Proteus syndrome review: molecular, clinical, and pathologic features.
- Published in:
- Clinical Genetics, 2014, v. 85, n. 2, p. 111, doi. 10.1111/cge.12266
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- Publication type:
- Article
AKT1 Gene Mutation Levels Are Correlated with the Type of Dermatologic Lesions in Patients with Proteus Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 2, p. 543, doi. 10.1038/jid.2013.312
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- Publication type:
- Article