Works matching Phakomatoses
Results: 347
FAKOMATOZE.
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- Pedijatrija Danas: Pediatrics Today, 2008, v. 4, n. 1, p. 33
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- Article
Phakomatoses and cutaneous manifestations associated with moyamoya disease and syndrome.
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- Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2020, v. 37, n. 6, p. 831, doi. 10.5114/ada.2020.102092
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- Article
Current concepts on ocular vascular abnormalities in the phakomatoses.
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- Seminars in Ophthalmology, 2021, v. 36, n. 7, p. 549, doi. 10.1080/08820538.2021.1900284
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- Article
NEUROIMAGING IN PEDIATRIC PHAKOMATOSES. AN EDUCATIONAL REVIEW.
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- Clujul Medical, 2016, v. 89, n. 1, p. 56, doi. 10.15386/cjmed-417
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- Article
Neuroimaging of phakomatoses: overview and advances.
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- Pediatric Radiology, 2015, v. 45, p. 433, doi. 10.1007/s00247-015-3282-3
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- Article
Multiple phakomatoses and primary open-angle glaucoma in one individual.
- Published in:
- 2020
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- Case Study
The Phakomatoses (Book).
- Published in:
- 1973
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- Book Review
National Cancer Institute Workshop Report: the phakomatoses revisited.
- Published in:
- 2000
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- journal article
RECENT ADVANCES IN THE PHAKOMATOSES.
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- International Journal of Dermatology, 1978, v. 17, n. 1, p. 1, doi. 10.1111/j.1365-4362.1978.tb06038.x
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- Article
Gorlin-Goltz Syndrome - Case Report of a Rare Phakomatoses.
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- 2024
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- Case Study
A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment.
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- Clinical Ophthalmology, 2016, v. 10, p. 1453, doi. 10.2147/OPTH.S112166
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- Article
An Update on the Ophthalmologic Features in the Phakomatoses.
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- Journal of Ophthalmology, 2016, p. 1, doi. 10.1155/2016/3043026
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- Article
Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations.
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- Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.678869
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- Article
The tuberous sclerosis complex genes in tumor development.
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- 2004
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- Publication type:
- journal article
Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-47286-2
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- Article
Aspekty neuropsychiatryczne i neuropsychologiczne zespołu Jadassohna -- przegląd piśmiennictwa i opis przypadku.
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- Neuropsychiatry & Neuropsychology / Neuropsychiatria i Neuropsychologia, 2012, v. 7, n. 2, p. 97
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- Publication type:
- Article
Multi-segmental neurofibromatosis.
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- Indian Journal of Dermatology, Venereology & Leprology, 2004, v. 70, n. 6, p. 361
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- Article
Neurocutaneous disorders: phakomatoses and hamarto-neoplastic syndromes.
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- 2008
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- Publication type:
- Book Review
Phakomatoses: A pictorial review.
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- Indian Journal of Radiology & Imaging, 2020, v. 30, n. 2, p. 195, doi. 10.4103/ijri.IJRI_497_19
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- Article
Ophthalmic manifestations of tuberous sclerosis: a review.
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- Clinical & Experimental Ophthalmology, 2017, v. 45, n. 1, p. 81, doi. 10.1111/ceo.12806
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- Article
Radiological assessment of neurocutaneous disorders: application of new imaging techniques.
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- British Journal of Dermatology, 1987, v. 117, p. 42, doi. 10.1111/j.1365-2133.1987.tb12038.x
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- Article
Sturge-Weber syndrome.
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- Journal of Medical & Allied Sciences, 2014, v. 4, n. 2, p. 88
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- Article
Pediatric brain MRI in neurofibromatosis type I.
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- 2005
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- Publication type:
- journal article
Role of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-- Lindau disease.
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- 2011
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- Publication type:
- Case Study
Leptomeningeal Enhancement and Enlarged Choroid Plexus Simulating the Appearance of Sturge–Weber Disease in a Child with Tuberous Sclerosis.
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- 2005
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- Publication type:
- Letter
Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #664 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/664.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 420, doi. 10.1002/humu.9193
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- Article
The Anesthetic Approach in a Patient with Type I Neurofibromatosis with Multiple Deformities.
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- Turkish Journal of Medical Sciences, 2008, v. 38, n. 5, p. 477
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- Publication type:
- Article
Solitary malignant schwannoma of the nasal cavity and paranasal sinuses: Report of two rare cases.
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- ENT: Ear, Nose & Throat Journal, 2003, v. 82, n. 8, p. 634, doi. 10.1177/014556130308200822
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- Article
Orbitotemporal Neurofibromatosis: Classification and Treatment.
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- Orbit, 2007, v. 26, n. 4, p. 223, doi. 10.1080/01676830600987227
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- Article
Phakomatous choristoma of the orbit.
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- Orbit, 1998, v. 17, n. 1, p. 47, doi. 10.1076/orbi.17.1.47.7948
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- Article
Glomus tumours in the long finger and in the thumb of a young patient with neurofibromatosis-1 (Nf-1).
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- Journal of Plastic Surgery & Hand Surgery (Taylor & Francis Ltd), 2013, v. 47, n. 3, p. 238, doi. 10.3109/2000656X.2012.754624
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- Article
Phacomatosis Cesioflammea Associated with Pectus Excavatum.
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- 2009
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- Publication type:
- Letter
Phacomatosis Pigmentokeratotica (Happle) in a 23-Year-Old Man.
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- Acta Dermato-Venereologica, 2002, v. 82, n. 1, p. 55, doi. 10.1080/000155502753600911
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- Publication type:
- Article
Congenital Triangular Alopecia in Phakomatosis Pigmentovascularis: Report of 3 Cases.
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- Acta Dermato-Venereologica, 2000, v. 80, n. 3, p. 215, doi. 10.1080/000155500750043041
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- Publication type:
- Article
Tuberous Sclerosis Complex: Perioperative Considerations.
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- 2014
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- Publication type:
- Case Study
Two Hyperplastic Esophagogastric Polyps in a Child with Neurofibromatosis Type 1 (NF-1).
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- Pediatric & Developmental Pathology, 2008, v. 11, n. 3, p. 235, doi. 10.2350/07-04-0266.1
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- Article
Sudden, Unexpected Death Associated with Meningioangiomatosis: Case Report.
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- Pediatric & Developmental Pathology, 2005, v. 8, n. 2, p. 240, doi. 10.1007/s10024-004-9105-4
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- Article
Hamartoma Involving the Pseudarthrosis Site in Patients With Neurofibromatosis Type 1.
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- Pediatric & Developmental Pathology, 2005, v. 8, n. 2, p. 190, doi. 10.1007/s10024-004-1004-1
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- Article
Management strategies in neurofibromatosis type 2.
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- European Archives of Oto-Rhino-Laryngology, 2003, v. 260, n. 1, p. 12, doi. 10.1007/s00405-002-0503-9
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- Article
A Tuber-ful Animal Model of Tuberous Sclerosis At Last?
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- Epilepsy Currents, 2012, v. 12, n. 1, p. 15, doi. 10.5698/1535-7511-12.1.15
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- Article
Phacomatoses, genetic testing for personalisation of clinical management (part 2).
- Published in:
- Nowotwory, 2022, v. 72, n. 1, p. 58, doi. 10.5603/NJO.2022.0007
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- Article
Phacomatoses, genetic testing for personalisation of clinical management (part 1.).
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- Nowotwory, 2021, v. 71, n. 6, p. 420, doi. 10.5603/NJO.2021.0075
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- Article
Determining the zone of reflection for posterior corneal surface comparison phakometry.
- Published in:
- Ophthalmic & Physiological Optics, 2009, v. 29, n. 1, p. 99, doi. 10.1111/j.1475-1313.2008.00597.x
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- Article
Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome?
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- Clinical Case Reports, 2016, v. 4, n. 6, p. 564, doi. 10.1002/ccr3.570
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- Article
DERMATOLOGICAL EXAMINATION OF FAMILY MEMBERS FOR THE DIAGNOSIS OF NF1.
- Published in:
- 2015
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- Publication type:
- Case Study
SEGMENTAL NEUROFIBROMATOSIS.
- Published in:
- 2014
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- Publication type:
- Case Study
Segmental neurofibromatosis type 1. Differences between the childhood and adult form.
- Published in:
- European Journal of Pediatric Dermatology, 2012, v. 22, n. 4, p. 257
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- Publication type:
- Article
PHAKOMATOSIS PIGMENTO-VASCULARIS.
- Published in:
- 2011
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- Publication type:
- Case Study
Phakomatosis pigmento-vascularis type IIb consisting of generalized Mongolian spot associated with Klippel-Trenaunay syndrome.
- Published in:
- European Journal of Pediatric Dermatology, 2010, v. 20, n. 4, p. 243
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- Publication type:
- Article
Towards precision medicine in vascular anomalies: Could protein kinase C inhibitors be repurposed for GNAQ/11‐related phakomatoses?
- Published in:
- Skin Research & Technology, 2024, v. 30, n. 6, p. 1, doi. 10.1111/srt.13736
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- Publication type:
- Article