Results 21 to 30 of about 14,663 (163)

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina:insights into X-linked Retinitis Pigmentosa and associated ciliopathies [PDF]

, 2008
Mutations in the cilia-centrosomal protein Retinitis Pigmentosa GTPase Regulator (RPGR) are a frequent cause of retinal degeneration. The RPGR gene undergoes complex alternative splicing and encodes multiple protein isoforms. To elucidate the function of
Hurd, Toby W, Behnam, Babak, Margolis, Ben, Khanna, Hemant, He, Shirley, Parapuram, Sunil K, Swaroop, Anand   +6 more
core   +1 more source

Urticária pigmentosa em adulto com apresentação clínica exuberante Clinically exuberant urticaria pigmentosa in an adult patient

Anais Brasileiros de Dermatologia, 2006
A mastocitose é afecção rara e heterogênea, caracterizada por aumento da densidade dos mastócitos na pele e em outros órgãos, para a qual não há tratamento específico.
Josemir Belo dos Santos, Luciano Montenegro, Patricia de Barros Guimarães, Paula Corrêa, Silvia da Costa Carvalho, Zoraide Duque   +5 more
doaj   +1 more source

Localized Pseudoxanthomatous Mastocytosis of Vulva

Indian Journal of Paediatric Dermatology, 2021
Cutaneous mastocytosis (CM) is a mast cell proliferative disorder that is common in the pediatric age group. Common entities are urticaria pigmentosa, solitary mastocytoma, telangiectasia macularis eruptive perstans. and diffuse CM.
Shivi Nijhawan, Manisha Nijhawan, Savita Agarwal   +2 more
doaj   +1 more source

Urticaria pigmentosa de presentación atípica en la infancia: Reporte de un caso clínico

ARS Medica, 2016
La Urticaria Pigmentosa es el tipo más frecuente de mastocitosis cutáneas de inicio en la edad pediátrica, representando el 75% de los casos. Se presenta con máculas y/o pápulas de color amarillo a café-rojizo, usualmente con signo de Darier positivo y ...
Catherina Moll-Manzur, Camila Downey, María Teresa Dossi Cataldo   +2 more
doaj   +1 more source

The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32 [PDF]

, 2010
Retinitis pigmentosa (RP) is a severe hereditary eye disorder characterized by progressive degeneration of photoreceptors and subsequent loss of vision. Two of the RP associated mutations were found in the CNGB1 gene that encodes the B subunit of the rod
Biel Martin, Hennel, Roman, Biel, Martin, Hammelmann, Verena, Michalakis, Stylianos, Elvir Becirovic, Roman Hennel, Kostadinka Nakova, Hennel Roman, Becirovic Elvir, Hammelmann Verena, Becirovic, Elvir; https://orcid.org/, Nakova, Kostadinka, Nakova Kostadinka, Martin Biel, Stylianos Michalakis, Michalakis Stylianos, Becirovic, Elvir, Verena Hammelmann   +18 more
core   +1 more source

Functional analysis of A 5' untranslated variant in rhodopsin : implications for the retinitis pigmentosa phenotype [PDF]

, 2011
Retinitis Pigmentosa (RP) is a group of heterogeneous retinal degenerative diseases that predominantly affect rod photoreceptor cells. Symptoms include night blindness and gradual peripheral vision loss, which progresses to a complete loss of vision ...
Akinyi, Maureen Veronica
core   +1 more source

Um Novo Olhar sobre a Telangiectasia Macularis Eruptiva Perstans

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2016
A telangiectasia macularis eruptiva perstans (TMEP) é uma forma rara de mastocitose cutânea com semiologia e histologia próprias, mas não isenta de controvérsia em relação à sua individualização enquanto entidade nosológica.
André Pinho, José Carlos Cardoso, Hugo Oliveira, Óscar Tellechea, Américo Figueiredo   +4 more
doaj   +1 more source

Non-viral delivery and optimized optogenetic stimulation of retinal ganglion cells led to behavioral restoration of vision [PDF]

, 2012
Stimulation of retinal neurons using optogenetics via use of chanelrhodopsin-2 (ChR2) has opened up a new direction for restoration of vision for treatment of retinitis pigmentosa (RP).
Shivaranjani Shivalingaiah, Samarendra Mohanty, Mathew Ficinski, Ling Gu, Edward Wong   +4 more
core   +1 more source

Baseline Serum Tryptase: Sex- and Age-Specific Reference Intervals in the Pediatric and Adult Population. [PDF]

Allergy
Allergy, Volume 80, Issue 11, Page 3217-3221, November 2025.
Chantran Y, Novakowski H, Vial-Dupuy A, Bouz C, Apoil PA, Choi S, Fromentin E, Goret J, Mathieu P, Michel M, Nemni A, Sève E, Roda C, Rancière F, Vitte J, Momas I, Klingebiel C, GTBA of the SFA.   +17 more
europepmc   +2 more sources

Um Caso de Urticária Multiforme em Criança [PDF]

, 2020
Urticaria multiforme is an acute hypersensitivity reaction which can be considered a morphological subtype of urticaria. It is more common in children and as its clinical presentation resembles other pathologies such as erythema multiforme, urticarial ...
Carlos Gripp, Alexandre, Figueiredo Marsillac, Paula, Lago Obadia, Daniel, Carvalho Abrahão, Rafaela, Oliveira Santos, Isabele, Caldas Oliveira, Talita, Daniel Lago Obadia, Alexandre Carlos Gripp, Isabele Oliveira Santos, Talita Caldas Oliveira, Rafaela Carvalho Abrahão, Paula Figueiredo Marsillac   +11 more
core   +1 more source