Relevant bibliographies by topics / Phakomatos

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters

Academic literature on the topic 'Phakomatos'

Author: Grafiati
Published: 28 May 2022
Last updated: 31 July 2025

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Journal articles on the topic "Phakomatos"

1

Senthilkumar, Vijayalakshmi A., Piyush Kohli, Chitaranjan Mishra, and Kavitha Mamchisetti. "Ocular features in a patient presenting with a rare combination of multiple phakomatoses." BMJ Case Reports 15, no. 11 (2022): e252746. http://dx.doi.org/10.1136/bcr-2022-252746.

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Phakomatoses are a group of congenital disorders characterised by hamartomatous lesions of the skin as well as the central and peripheral nervous systems. The presence of naevus flammeus or port-wine stain is a characteristic feature of many such disorders including Sturge-Weber syndrome (SWS), Klippel-Trenaunay syndrome (KTS) and Phakomatosis pigmentovascularis (PPV).We describe the ocular findings in a patient with coexisting PPV, SWS and KTS
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Abdolrahimzadeh, Solmaz, Vittorio Scavella, Lorenzo Felli, Filippo Cruciani, Maria Teresa Contestabile, and Santi Maria Recupero. "Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?" BioMed Research International 2015 (2015): 1–11. http://dx.doi.org/10.1155/2015/786519.

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The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis have the facial port-wine stain in common. Numerous pathophysiogenetic mechanisms have been suggested such as venous dysplasia of the emissary veins in the intracranial circulation, neural crest alterations leading to alterations of autonomic perivascular nerves, mutation of the GNAO gene in the Sturge-Weber syndrome,
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Abdolrahimzadeh, Solmaz, Valeria Fameli, Roberto Mollo, Maria Teresa Contestabile, Andrea Perdicchi, and Santi Maria Recupero. "Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management." BioMed Research International 2015 (2015): 1–11. http://dx.doi.org/10.1155/2015/781294.

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Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. Neural crest alterations lead to the wide spectrum of iridoc
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Tsotsonava, Zhuzhuna M., Vladimir V. Belopasov, and Natal’ya V. Tkacheva. "Neoplastic potential for malformations of the development of ecto- and mesodermal structures." L.O. Badalyan Neurological Journal 1, no. 4 (2020): 208–16. http://dx.doi.org/10.17816/2686-8997-2020-1-4-208-216.

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Introduction.Malformations of ecto- and mesodermal structures represent various forms of abnormality of intrauterine systemic and local morphogenesis, arising at different times of embryonic development due to environmental factors, genomic, chromosomal or gene mutations. Dysregulation of cellular functions due to mutations and accumulation of defective proteins initiates tumor transformation of tissues e.g. hereditary diseases of ectomesodermal origin phakomatosis (hamartomatosis).
 The aim of the studywas to determine organ specificity, clinical manifestations, morphological features an
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Blenc, Ann Marie, José A. Gómez, Min W. Lee, Frank X. Torres, and James S. Linder. "Phakomatous Choristoma." American Journal of Dermatopathology 22, no. 1 (2000): 55–59. http://dx.doi.org/10.1097/00000372-200002000-00011.

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Heo, Seo Yoon, Haeng-Jin Lee, Myoung Ja Chung, and Min Ahn. "Phakomatous Choristoma of the Orbit with Inferior Oblique Muscle Involvement." Journal of the Korean Ophthalmological Society 62, no. 9 (2021): 1287–91. http://dx.doi.org/10.3341/jkos.2021.62.9.1287.

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Purpose: We report a case of phakomatous choristoma presenting as an orbital tumor with involvement of the inferior oblique muscle. Case summary: A 2-month-old male infant presented to our clinic with a right orbital mass that had been present since birth. Magnetic resonance imaging demonstrated a homogenous enhanced well-defined mass located in the inferomedial portion of the right orbit without bone erosion. By transconjunctival orbitotomy, the orbital tumor invading the inferior oblique muscle was identified and resected. Histopathology showed a thick basement membrane surrounding pseudogla
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Rafizadeh, Seyed Mohsen, Hadi Ghadimi, and Zohreh Nozarian. "Phakomatous Choristoma of the Eyelid and Orbit: A Case Report." Pediatric and Developmental Pathology 23, no. 4 (2019): 296–300. http://dx.doi.org/10.1177/1093526619882136.

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Phakomatous choristoma was first described as a distinct pathologic entity by Zimmerman in 1971. Report of only 26 cases of this tumor so far is an indicator of the rarity of phakomatous choristoma. We present a 4-month-old infant with an orbital mass beneath the right lower eyelid. Surgical excision was undertaken and the histopathologic findings of a dense fibrocollagenous stroma containing small to medium size islands and glandular-like structures surrounded by thick basement membrane and filled by amorphous eosinophilic material confirmed the diagnosis. Immunohistochemical study showed pos
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Mencía-Gutiérrez, E., E. Gutiérrez-Díaz, J. R. Ricoy, and B. Sarmiento-Torres. "Eyelid Phakomatous Choristoma." European Journal of Ophthalmology 13, no. 5 (2003): 482–85. http://dx.doi.org/10.1177/112067210301300510.

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Purpose To report a case of congenital phakomatous choristoma (PC) of the eyelid, a rare tumor of lenticular anlage in the subcutaneous tissue and dermis. Case A boy had a mass in the right lower eyelid near the inner canthus at birth. At age 10 months, the tumor was excised. Results The tumor cells showed intense immunoreactivity positive for S-100 protein, vimentin, and periodic acid-Schiff. Keratin markers, epithelial membrane antigen, glial fibrillary acidic protein, muscle specific actin, and epithelial membrane antigen were negative. The histopathologic features were consistent with thos
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Reith, W. "Phakomatosen." Der Radiologe 53, no. 12 (2013): 1075–76. http://dx.doi.org/10.1007/s00117-013-2532-3.

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Becker, Benjamin, and Roy E. Strowd. "Phakomatoses." Dermatologic Clinics 37, no. 4 (2019): 583–606. http://dx.doi.org/10.1016/j.det.2019.05.015.

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Dissertations / Theses on the topic "Phakomatos"

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Коленко, Оксана Іванівна, Оксана Ивановна Коленко та Oksana Ivanivna Kolenko. "Нейрофиброматоз Реклингаузена ІІ типа (случай из практики)". Thesis, Сумский государственный университет, 2016. http://essuir.sumdu.edu.ua/handle/123456789/47781.

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Факоматозы – это полиморфная группа наследственных заболеваний, основной клинической особенностью является сочетание поражения нервной системы, кожных покровов и внутренних органов. Наиболее часто встречающимся факоматозом является нейрофиброматоз Реклингаузена. Внедрение в медицинскую науку молекулярно-генетических методов исследования позволило выделить несколько разновидностей этого заболевания, имеющих разные подходы к ведению пациентов.
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Books on the topic "Phakomatos"

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Ruggieri, Martino, Ignacio Pascual-Castroviejo, and Concezio Di Rocco, eds. Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer Vienna, 2008. http://dx.doi.org/10.1007/978-3-211-69500-5.

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Rocco, Concezio Di, Martino Ruggieri, and Ignacio Pascual Castroviejo. Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes. Springer, 2016.

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(Editor), Martino Ruggieri, Ignacio Pascual Castroviejo (Editor), and Concezio Di Rocco (Editor), eds. Neurocutaneous Disorders: Phakomatoses & Hamartoneoplastic Syndromes. Springer, 2008.

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Rocco, Concezio Di, Martino Ruggieri, and Ignacio Pascual Castroviejo. Neurocutaneous Disorders: Phakomatoses and Hamartoneoplastic Syndromes. Springer London, Limited, 2009.

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5

Sybert, Virginia P. Disorders of Pigmentation. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780195397666.003.0004.

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Hyperpigmentation – Carney Complex – Dowling-Degos Disease – Dyskeratosis Congenita – Fanconi Anemia – Hemochromatosis – Incontinentia Pigmenti – LEOPARD Syndrome – Linear and Whorled Nevoid Hypermelanosis – McCune-Albright Syndrome – Naegeli Syndrome – Neurofibromatosis – Nevus Phakomatosis Pigmentovascularis – Peutz-Jeghers Syndrome – Universal Melanosis – Hypopigmentation – Albinisms – Albinism with Deafness – Hermansky-Pudlak Syndrome – Oculocutaneous Albinism Tyrosinase Negative – Oculocutaneous Albinism Tyrosinase Positive – Yellow Mutant Albinism – Cross Syndrome – Hypomelanosis of Ito
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Sybert, Virginia P. Disorders of Pigmentation. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190276478.003.0004.

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Chapter 4 covers Hyperpigmentation (including Carney Complex, Dowling-Degos Disease, Dyskeratosis Congenita, Fanconi Anemia, H Syndrome, Hemochromatosis, Incontinentia Pigmenti, LEOPARD Syndrome, Linear and Whorled Nevoid Hypermelanosis, McCune-Albright Syndrome, Naegeli Syndrome, Neurofibromatosis, Nevus Phakomatosis Pigmentovascularis, Peutz-Jeghers Syndrome, and Universal Melanosis) and Hypopigmentation ( Albinisms, Albinism with Deafness, Hermansky-Pudlak Syndrome, Oculocutaneous Albinism Tyrosinase Negative, Oculocutaneous Albinism Tyrosinase Positive, Yellow Mutant Albinism, Cross Syndro
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(Editor), Michihito Niimura, Fujio Otsuka (Editor), and Okio Hino (Editor), eds. Phacomatosis in Japan: Epidemiology, Clinical Picture and Molecular Biology (Gann Monograph on Cancer Research, 46). S Karger Pub, 1999.

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8

Ehninger, Dan, and Alcino J. Silva. Tuberous Sclerosis and Autism. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199744312.003.0009.

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Tuberous sclerosis (TSC) is a single-gene disorder caused by heterozygous mutations in either the TSC1 or TSC2 genes (Consortium, 1993; van Slegtenhorst et al., 1997). In 70% of cases, TSC gene mutations arise de novo. The remaining 30% of cases are familial with an autosomal dominant pattern of inheritance. Tuberous sclerosis belongs to the group of phakomatoses (neurocutaneous disorders) and is associated with characteristic manifestations in various organ systems, including the brain, skin, kidney, lung, heart, and liver (Crino, Nathanson, & Henske, 2006; Curatolo, Bombardieri & Joz
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Book chapters on the topic "Phakomatos"

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Pfahler, Vanessa, and Birgit Ertl-Wagner. "Phakomatoses." In Clinical Neuroradiology. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-61423-6_34-1.

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Tortori-Donati, Paolo, Andrea Rossi, Roberta Biancheri, and Cosma F. Andreula. "Phakomatoses." In Pediatric Neuroradiology. Springer Berlin Heidelberg, 2005. http://dx.doi.org/10.1007/3-540-26398-5_16.

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Radke, Nishant, Carol L. Shields, J. Fernando Arevalo, and Jay Chhablani. "Phakomatosis." In Retinal and Choroidal Imaging in Systemic Diseases. Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-5461-7_11.

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Ferbert, A., and L. Bergmann. "Phakomatosen." In Klinische Neurologie. Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-16920-5_49.

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Ertl-Wagner, Birgit. "Phakomatosen." In Pädiatrische Neuroradiologie. Springer Berlin Heidelberg, 2007. http://dx.doi.org/10.1007/978-3-540-68508-1_3.

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6

Berlit, Peter, Markus Krämer, and Ralph Weber. "Phakomatosen." In Neurologie Fragen und Antworten. Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-29732-8_13.

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Grossniklaus, Hans E. "Phakomatoses." In Pocket Guide to Ocular Oncology and Pathology. Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-29782-3_75.

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Shwayder, Tor, Samantha L. Schneider, Devika Icecreamwala, and Marla N. Jahnke. "Phakomatosis." In Longitudinal Observation of Pediatric Dermatology Patients. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-98101-7_19.

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Mautner, V. F., and S. M. Pulst. "Phakomatosen." In Neurogenetik. Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-642-72074-1_14.

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Korf, Bruce R. "Phakomatoses." In Health Care for People with Intellectual and Developmental Disabilities across the Lifespan. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-18096-0_71.

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