المؤلفون: Kofla-Dłubacz, Anna¹ anna.kofla-dlubacz@umed.wroc.pl, Stawarski, Andrzej¹, Pytrus, Tomasz¹, Gil, Justyna²

المصدر: Nowotwory. 2022, Vol. 72 Issue 1, p58-64. 7p.

مصطلحات موضوعية: *VON Hippel-Lindau disease, *PHAKOMATOSES, *GENETIC testing, *TUBEROUS sclerosis, *PATHOGENESIS

المؤلفون: Kofla-Dłubacz, Anna¹ anna.kofla-dlubacz@umed.wroc.pl, Stawarski, Andrzej¹, Pytrus, Tomasz¹, Gil, Justyna²

المصدر: Nowotwory. 2021, Vol. 71 Issue 6, p420-426. 7p.

مصطلحات موضوعية: *PHAKOMATOSES, *NEUROCUTANEOUS disorders, *DISEASES, *NEUROFIBROMATOSIS 1, *NEUROFIBROMATOSIS 2

المؤلفون: de Paula, Alessandro¹, Abdolrahimzadeh, Solmaz¹ solmaz.abdolrahimzadeh@uniroma1.it, Fragiotta, Serena¹, Di Pippo, Mariachiara¹, Scuderi, Gianluca¹

المصدر: Seminars in Ophthalmology. 2021, Vol. 36 Issue 7, p549-560. 12p.

مصطلحات موضوعية: *PHAKOMATOSES, *NEUROFIBROMATOSIS, *VON Hippel-Lindau disease, *MOYAMOYA disease, *HEMANGIOBLASTOMAS, *OPTICAL coherence tomography

المؤلفون: Ivelina Kioutchoukova, Devon Foster, Rajvi Thakkar, Christopher Ciesla, Jake Salvatore Cabassa, Jacob Strouse, Hayley Kurz, Brandon Lucke-Wold

المصدر: Journal of Clinical Medicine, Vol 13, Iss 6, p 1648 (2024)

مصطلحات موضوعية: neurocutaneous disorders, cutaneous, neurologic, phakomatoses, genetic advances, precision medicine, Medicine

Relation: https://www.mdpi.com/2077-0383/13/6/1648; https://doaj.org/toc/2077-0383; https://doaj.org/article/0992b17957624cf0baf524dab69d74bc

الاتاحة: https://doi.org/10.3390/jcm13061648
https://doaj.org/article/0992b17957624cf0baf524dab69d74bc

المؤلفون: Marcinkowska, Anna B., Tarasewicz, Agnieszka, Jóźwiak, Sergiusz, Dębska-Ślizień, Alicja, Szurowska, Edyta

المصدر: Psychiatria Polska; 2023, Vol. 57 Issue 4, p1-20, 20p

مصطلحات موضوعية: NEUROBEHAVIORAL disorders, TUBEROUS sclerosis, MENTAL illness, PSYCHOSOCIAL factors, PHAKOMATOSES

المؤلفون: Tomaszewska, Maja¹, Strzelczuk-Judka, Lidia¹ lidka_strzelczuk@wp.pl, Ostalska-Nowicka, Danuta², Jończyk-Potoczna, Katarzyna¹

المصدر: Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii. 2020, Vol. 37 Issue 6, p831-835. 5p.

مصطلحات موضوعية: *PHAKOMATOSES, *MOYAMOYA disease, *NEUROCUTANEOUS disorders, *BRAIN imaging, *CENTRAL nervous system

المؤلفون: Mitra, Arijit¹, Chaudhury, Debarpita¹, Choudhury, Sumit¹, Sar, Suchanda¹, Ghosh, Smita¹

المصدر: Asian Journal of Ophthalmology. 2020, Vol. 17 Issue 3, p290-301. 12p.

مصطلحات موضوعية: *OPEN-angle glaucoma, *PHAKOMATOSES, *DISEASES in women, *MELANOSIS, *GONIOSCOPY, *HEMORRHAGE, *NEUROFIBROMATOSIS 1, *HYPERPIGMENTATION

المؤلفون: Dr. Vaishali P. Gohil, Dr. Mayur Dangi, Dr. Vijay Damor, Dr. Harshit Shah

مصطلحات موضوعية: Tuberous sclerosis, Adenoma sebaceum, Hamartoma, Phakomatoses

Relation: https://doi.org/10.5281/zenodo.7740224; https://doi.org/10.5281/zenodo.7740225; oai:zenodo.org:7740225

الاتاحة: https://doi.org/10.5281/zenodo.7740225

المؤلفون: Prieto‐Barrios, M.¹ martaprietobarrios@gmail.com, Llamas‐Martin, R.¹, Velasco‐Tamariz, V.¹, Calleja‐Algarra, A.¹, Ruano, Y.², Ortiz‐Romero, P.L.¹, Rodriguez‐Peralto, J.L.²

المصدر: British Journal of Dermatology. Nov2018, Vol. 179 Issue 5, p1163-1167. 5p.

مصطلحات موضوعية: *RHABDOMYOSARCOMA, *PHAKOMATOSES, *HRAS genes, *GERM cells, *NEVUS, *SARCOMA

المؤلفون: Laviv, Yosef^1,2 ylaviv@BIDMC.harvard.edu, Kasper, Burkhard S³, Kasper, Ekkehard M.¹

المصدر: Neurosurgical Review. Oct2018, Vol. 41 Issue 4, p957-968. 12p.

مصطلحات موضوعية: *PHAKOMATOSES, *TUMOR treatment, *NEOVASCULARIZATION, *CEREBROSPINAL fluid, *INFLAMMATION

المؤلفون: Laviv, Yosef¹ ylaviv@BIDMC.harvard.edu, Kasper, Burkhard², Kasper, Ekkehard M.¹

المصدر: Neurosurgical Review. Oct2018, Vol. 41 Issue 4, p931-944. 14p.

مصطلحات موضوعية: *PHAKOMATOSES, *TUMOR treatment, *NEOVASCULARIZATION, *INFLAMMATION, *CEREBROSPINAL fluid, *PATHOLOGICAL physiology

المؤلفون: Singal, Archana¹ archanasingal@hotmail.com, Mittal, Hema², Aggarwal, Anju², Das, Saurabhi², Manchanda, Smita³

المصدر: Pediatric Dermatology. May2018, Vol. 35 Issue 3, pe151-e154. 4p. 2 Color Photographs, 1 Diagram, 1 Chart.

مصطلحات موضوعية: *PHAKOMATOSES, *RARE diseases, *SKIN diseases, *CUTANEOUS manifestations of general diseases, *BLOOD-vessel abnormalities, *VENAE cavae, *VARICOSE veins, *NATAL teeth

المؤلفون: M Sarthak Swarup, Swati Gupta, Sapna Singh, Anjali Prakash, Anurag Mehndiratta, Anju Garg

المصدر: Indian Journal of Radiology and Imaging, Vol 30, Iss 02, Pp 195-205 (2020)

مصطلحات موضوعية: central nervous system, magnetic resonance imaging, neurocutaneous, neurofibromatosis, phakomatoses, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0971-3026; https://doaj.org/toc/1998-3808

URL الوصول: https://doaj.org/article/7a52f9a817af44c58842294ae26dc570

المؤلفون: Peltonen, Sirkku¹ sipelto@utu.fi, Kallionpää, Roope A.², Peltonen, Juha²

المصدر: Experimental Dermatology. Jul2017, Vol. 26 Issue 7, p645-648. 4p.

مصطلحات موضوعية: *NEUROFIBROMA, *PHAKOMATOSES, *NOONAN syndrome, *NEUROFIBROMATOSIS, *HUMAN anatomy

المؤلفون: Ulusal, S. D.¹ selmaulusal@trakya.edu.tr, Gürkan, H.¹, Atlı, E.¹, Özal, S. A.², Çiftdemir, M.³, Tozkır, H.¹, Karal, Y.⁴, Güçlü, H.², Eker, D.¹, Görker, I.⁵

المصدر: Balkan Journal of Medical Genetics. Jun2017, Vol. 20 Issue 1, p13-19. 7p.

مصطلحات موضوعية: *NEUROFIBROMA, *PHAKOMATOSES, *NEUROFIBROMATOSIS, *NERVOUS system, *TISSUE wounds

المؤلفون: Pinto, E, Veiga, M, Sagarribay, A, Conceição, C

مصطلحات موضوعية: CHLC NRAD, CHLC NCIR, Diffuse Lipomatosis, Neuroradiology, Periodontoid Pseudotumor, Phakomatoses, Tuberous Sclerosis

Relation: Cureus . 2022 Dec 18;14(12):e32663.; http://hdl.handle.net/10400.17/4461

الاتاحة: http://hdl.handle.net/10400.17/4461
https://doi.org/10.7759/cureus.32663

المؤلفون: Yam Bahadur Roka

المصدر: Nepal Journal of Neuroscience, Vol 16, Iss 2, Pp 46-49 (2019)

مصطلحات موضوعية: port wine stain, sturge weber syndrome, neurocutaneous syndrome, neurooculo cutaneous, phakomatoses, seizure, glaucoma, Surgery, RD1-811, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.nepjol.info/index.php/NJN/article/view/25954; https://doaj.org/toc/1813-1948; https://doaj.org/toc/1813-1956

URL الوصول: https://doaj.org/article/580f9356839e44afab076e5e84b9cf6b

المؤلفون: Bergler-Czop, B¹, Miziołek, B², Brzezińska-Wcisło, L¹

المصدر: Balkan Journal of Medical Genetics. Jul2016, Vol. 19 Issue 1, p95-102. 8p.

مصطلحات موضوعية: *NEUROFIBROMA, *PHAKOMATOSES, *GENETIC disorders, *NEUROFIBROMATOSIS, *GENOTYPES

المؤلفون: Gamayunov, Boris N.¹, Korotkiy, Nikolay G.², Baranova, Elena E.³

المصدر: Clinical Case Reports. Jun2016, Vol. 4 Issue 6, p564-567. 4p.

مصطلحات موضوعية: *PHAKOMATOSES, *MELANOSIS, *LENTIGO, *GENETIC mutation, *PROGENITOR cells

المؤلفون: Basyach, Pranami

المصدر: International Journal of Research in Medical Sciences; Vol 9, No 12 (2021): December 2021; 3721-3725 ; 2320-6012 ; 2320-6071

مصطلحات موضوعية: Sturge-Weber syndrome, Phakomatoses, Hamartomas, Intraocular pressure, Gonioscopy, Trabeculectomy

وصف الملف: application/pdf

Relation: https://www.msjonline.org/index.php/ijrms/article/view/10198/6892; https://www.msjonline.org/index.php/ijrms/article/view/10198

الاتاحة: https://www.msjonline.org/index.php/ijrms/article/view/10198
https://doi.org/10.18203/2320-6012.ijrms20214728