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About 114 results

ALLMedicine™ Phakomatoses Center

Research & Reviews  57 results

Tuberous Sclerosis Complex.
https://doi.org/10.1016/j.spen.2021.100875
Seminars in Pediatric Neurology; Islam MP

Apr 24th, 2021 - Affecting approximately 1 per 6000-10,000 individuals, tuberous sclerosis complex (TSC) is a neurocutaneous disorder that is not only uncommon but at risk to go underrecognized. Similar to other phakomatoses, TSC is a disorder of cellular prolifer...

Current concepts on ocular vascular abnormalities in the phakomatoses.
https://doi.org/10.1080/08820538.2021.1900284
Seminars in Ophthalmology; de Paula A, Abdolrahimzadeh S et. al.

Mar 23rd, 2021 - Neurofibromatosis, Von Hippel Lindau disease, and tuberous sclerosis complex are classified under the term phakomatoses. They are characterized by ocular vascular abnormalities such as vascular tortuosity, corkscrew retinal vessel configuration, m...

Introduction to phacomatoses (neurocutaneous disorders) in childhood.
https://doi.org/10.1007/s00381-020-04758-5
Child's Nervous System : ChNS : Official Journal of the I... Ruggieri M, Polizzi A et. al.

Sep 17th, 2020 - The Dutch ophthalmologist, Jan van der Hoeve, first introduced the terms phakoma/phakomata (from the old Greek word "ϕαχοσ" = lentil, spot, lens-shaped) to define similar retinal lesions recorded in tuberous sclerosis (1920) and in neurofibromatos...

Intracranial calcifications on CT: an updated review.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6738489
Journal of Radiology Case Reports; Saade C, Najem E et. al.

Sep 28th, 2019 - Intracranial calcifications are frequently encountered in non-contrast computed tomography scan in both adult and pediatric age groups. They refer to calcifications within the brain parenchyma or vasculature and can be classified into several majo...

Phakomatoses.
https://doi.org/10.1016/j.det.2019.05.015
Dermatologic Clinics; Becker B, Strowd RE

Aug 30th, 2019 - Phakomatoses present with characteristic findings on the skin, central or peripheral nervous system, and tumors. Neurofibromatosis type 1 is the most common syndrome and is characterized by Café-au-lait macules, intertriginous freckling, Lisch nod...

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Clinicaltrials.gov  57 results

Tuberous Sclerosis Complex.
https://doi.org/10.1016/j.spen.2021.100875
Seminars in Pediatric Neurology; Islam MP

Apr 24th, 2021 - Affecting approximately 1 per 6000-10,000 individuals, tuberous sclerosis complex (TSC) is a neurocutaneous disorder that is not only uncommon but at risk to go underrecognized. Similar to other phakomatoses, TSC is a disorder of cellular prolifer...

Current concepts on ocular vascular abnormalities in the phakomatoses.
https://doi.org/10.1080/08820538.2021.1900284
Seminars in Ophthalmology; de Paula A, Abdolrahimzadeh S et. al.

Mar 23rd, 2021 - Neurofibromatosis, Von Hippel Lindau disease, and tuberous sclerosis complex are classified under the term phakomatoses. They are characterized by ocular vascular abnormalities such as vascular tortuosity, corkscrew retinal vessel configuration, m...

Introduction to phacomatoses (neurocutaneous disorders) in childhood.
https://doi.org/10.1007/s00381-020-04758-5
Child's Nervous System : ChNS : Official Journal of the I... Ruggieri M, Polizzi A et. al.

Sep 17th, 2020 - The Dutch ophthalmologist, Jan van der Hoeve, first introduced the terms phakoma/phakomata (from the old Greek word "ϕαχοσ" = lentil, spot, lens-shaped) to define similar retinal lesions recorded in tuberous sclerosis (1920) and in neurofibromatos...

Intracranial calcifications on CT: an updated review.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6738489
Journal of Radiology Case Reports; Saade C, Najem E et. al.

Sep 28th, 2019 - Intracranial calcifications are frequently encountered in non-contrast computed tomography scan in both adult and pediatric age groups. They refer to calcifications within the brain parenchyma or vasculature and can be classified into several majo...

Phakomatoses.
https://doi.org/10.1016/j.det.2019.05.015
Dermatologic Clinics; Becker B, Strowd RE

Aug 30th, 2019 - Phakomatoses present with characteristic findings on the skin, central or peripheral nervous system, and tumors. Neurofibromatosis type 1 is the most common syndrome and is characterized by Café-au-lait macules, intertriginous freckling, Lisch nod...

see more →